Peroxisome Biogenesis Disorder 1b; Pbd1b

Description

Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, {214100}) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRDThe phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B (OMIM ) is caused by mutation in the PEX5 gene (OMIM ) on chromosome 12p13.3; PBD3B (OMIM ) is caused by mutation in the PEX12 gene (OMIM ) on chromosome 17; PBD4B (OMIM ) is caused by mutation in the PEX6 gene (OMIM ) on chromosome 6p21.1; PBD5B (OMIM ) is caused by mutation in the PEX2 gene (OMIM ) on chromosome 8q21.1; PBD6B (OMIM ) is caused by mutation in the PEX10 gene (OMIM ) on chromosome 1p36.32; PBD7B (OMIM )is caused by mutation in the PEX26 gene (OMIM ) on chromosome 22q11.21; PBD8B (OMIM ) is caused by mutation in the PEX16 gene (OMIM ) on chromosome 11p11; PDB10B (OMIM ) is caused by mutation in the PEX3 gene (OMIM ) on chromosome 6q24; and PBD11B (OMIM ) is caused by mutation in the PEX13 gene (OMIM ) on chromosome 2p15.See PBD1A (OMIM ) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a mild PBD without rhizomelia (PBD9B ), are caused by mutation in the PEX7 gene (OMIM ) on chromosome 6q23.

Genes related to Peroxisome Biogenesis Disorder 1b; Pbd1b

PEX10
PEX1
PEX6
PEX14
PEX12
PEX19
PEX13
PEX26
PEX11B
PEX5
PEX16
PEX2
PEX3

Clinical Features

Top most frequent phenotypes and symptoms related to Peroxisome Biogenesis Disorder 1b; Pbd1b

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Pica
Hearing impairment
Ataxia
Growth delay
Nystagmus

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Peroxisome Biogenesis Disorder 1b; Pbd1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26 , (...) View the complete list with 67 more genes Panel GTR000522580 complete gene list PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26, KLF1, GATA1, WDR35, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIF23, FAT4, KIAA0586, LZTR1, PIEZO1, FOXC2, MID1, PEX6, LBR, PIGA, KMT2D, ASAH1, CHRND, CHRNA1, CLCNKB, SUMF1, SLC17A5, PEX1, G6PD, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, RPS19, PTPN11, NRAS, NPC1, MAP2K1, LIPA, KRAS, IDUA, HRAS, GLA, DHCR7, BRAF, GBA, FGFR3, PMM2, GBE1, GALNS, GUSB, CTSA, ALG1, ALG9, HADHB, RPL35A, SMPD1, RAF1, HADHA, GLB1, GNPTAB, COL2A1 Specificity 13 % Genes 85 %
NGS Peroxisome Biogenesis Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2 Specificity 100 % Genes 93 %
Lysosomal Storage Disease Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, COL11A2 , (...) View the complete list with 55 more genes Panel GTR000525130 complete gene list DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, COL11A2, TCF4, KMT2D, ATP13A2, MFSD8, DNAJC5, ASAH1, CLN5, SUMF1, SLC17A5, PEX1, MCOLN1, PPT1, PEX2, CTNS, CLN8, CLN6, GPC3, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ARSA, ARSB, AGA, CLN3, TPP1, GALC, MAN2B1, MANBA, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CTSA, CTSK, PHYH, HEXB, GM2A, HEXA, CTSD, SMPD1, GNE, GLB1, GNPTAB, PSAP, COL2A1, GAA Specificity 16 % Genes 93 %
Zellweger Spectrum Disorder NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2, DNM1L Specificity 93 % Genes 93 %
Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2, ACOX1, SCP2, DNM1L, HSD17B4 Specificity 75 % Genes 93 %
Peroxisomal Disorders Comprehensive NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. TRIM37, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, AGXT, ACOX1, PHYH, AGPS, SCP2 , (...) View the complete list with 4 more genes Panel GTR000515765 complete gene list TRIM37, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, AGXT, ACOX1, PHYH, AGPS, SCP2, CAT, DNM1L, HSD17B4, AMACR Specificity 50 % Genes 93 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1 Specificity 2 % Genes 39 %
Peroxisomal disorders. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom. PEX11B, GNPAT, PEX5, PEX10, PEX3, PEX6, PEX1, PEX7, PEX2, AGXT, ACOX1, ABCD1, AGPS, DNM1L, HSD17B4, AMACR Specificity 44 % Genes 54 %
Peroxisomal disorders targetted panel. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom. PEX12, PEX10, PEX26, PEX6, PEX1 Specificity 100 % Genes 39 %
PEX10. Sequencing of the exons 4 and 5. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX10 Specificity 100 % Genes 8 %
PEX10. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX10 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX10 gene). By CGC Genetics in Portugal. PEX10 Specificity 100 % Genes 8 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes). By CGC Genetics in Portugal. SC5D, SIAE, IGF2R, EHHADH, FAR1, ABCD3, PMVK, ATP6AP1, MFF, ECM1, ACP2, VMA21, DNASE1, PEX11B, LAMTOR2, ATP6V0A4, IDH1, VIPAS39, TRIM37, GNPAT , (...) View the complete list with 88 more genes Panel GTR000556905 complete gene list SC5D, SIAE, IGF2R, EHHADH, FAR1, ABCD3, PMVK, ATP6AP1, MFF, ECM1, ACP2, VMA21, DNASE1, PEX11B, LAMTOR2, ATP6V0A4, IDH1, VIPAS39, TRIM37, GNPAT, LYST, GNPTG, ADAMTSL2, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, ATP6V1B1, ATP6V1B2, ATP6AP2, ATP13A2, MFSD8, CTSF, ASAH1, SCARB2, SHOX, FIG4, CLN5, SUMF1, SLC17A5, PEX1, MCOLN1, PEX7, PPT1, PEX2, CTNS, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GBA, ARSA, SUGCT, ARSB, AGA, ABCD4, CLN3, TPP1, GALC, MAN2B1, MANBA, SGSH, NAGLU, HGSNAT, GALNS, GUSB, CTSA, TCIRG1, AGXT, ACOX1, CTSK, PHYH, HEXA, LMBRD1, AGPS, GRN, AP3B1, CTSD, SCP2, HPS6, BLOC1S3, DNM1L, HPS1, SMPD1, ATP6V0A2, GLB1, GNPTAB, PSAP, CLCN7, HSD17B4, AMACR, PPARG, GAA Specificity 13 % Genes 100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes). By CGC Genetics in Portugal. SC5D, SIAE, IGF2R, EHHADH, FAR1, ABCD3, PMVK, ATP6AP1, MFF, ECM1, ACP2, VMA21, DNASE1, PEX11B, LAMTOR2, ATP6V0A4, IDH1, VIPAS39, TRIM37, GNPAT , (...) View the complete list with 88 more genes Panel GTR000557379 complete gene list SC5D, SIAE, IGF2R, EHHADH, FAR1, ABCD3, PMVK, ATP6AP1, MFF, ECM1, ACP2, VMA21, DNASE1, PEX11B, LAMTOR2, ATP6V0A4, IDH1, VIPAS39, TRIM37, GNPAT, LYST, GNPTG, ADAMTSL2, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, ATP6V1B1, ATP6V1B2, ATP6AP2, ATP13A2, MFSD8, CTSF, ASAH1, SCARB2, SHOX, FIG4, CLN5, SUMF1, SLC17A5, PEX1, MCOLN1, PEX7, PPT1, PEX2, CTNS, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GBA, ARSA, SUGCT, ARSB, AGA, ABCD4, CLN3, TPP1, GALC, MAN2B1, MANBA, SGSH, NAGLU, HGSNAT, GALNS, GUSB, CTSA, TCIRG1, AGXT, ACOX1, CTSK, PHYH, HEXA, LMBRD1, AGPS, GRN, AP3B1, CTSD, SCP2, HPS6, BLOC1S3, DNM1L, HPS1, SMPD1, ATP6V0A2, GLB1, GNPTAB, PSAP, CLCN7, HSD17B4, AMACR, PPARG, GAA Specificity 13 % Genes 100 %
Zellweger Syndrome Spectrum. By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands. PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2 Specificity 100 % Genes 100 %
Peroxisomal Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ABCD3, PEX11B, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ACOX1, PHYH, ABCD1, AGPS , (...) View the complete list with 2 more genes Panel GTR000523313 complete gene list ABCD3, PEX11B, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ACOX1, PHYH, ABCD1, AGPS, DNM1L, HSD17B4 Specificity 60 % Genes 100 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX10 Gene. By PreventionGenetics PreventionGenetics in United States. PEX10 Specificity 100 % Genes 8 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...) View the complete list with 285 more genes Panel GTR000552334 complete gene list ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN, PEX11B, CEP78, KIAA1549, RCBTB1, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, COL18A1, TUBGCP6, TUBGCP4, PLK4, LRP2, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, IFT172, TCTN3, SLC25A46, VSX2, B9D2, ARL13B, IFT80, CPLANE1, CEP41, IFT43, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, GNPTG, ABCC6, PEX6, PRPS1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, HCN1, LARGE1, ISPD, PNPLA6, AHI1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, MVK, WDR35, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, CTNNB1, TMEM231, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, FBLN5, MMACHC, SPATA7, NEUROD1, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 5 % Genes 100 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL , (...) View the complete list with 20 more genes Panel GTR000552126 complete gene list GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LIPA, KRAS, IDUA, HRAS, DHCR7, BRAF, GBA, GALNS, GUSB, CTSA, RAF1, GLB1, GNPTAB Specificity 13 % Genes 39 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...) View the complete list with 134 more genes Panel GTR000560807 complete gene list ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2, TREM2, CSF1R, COX10, MARS2, DCAF17, GJA1, CTC1, RNASET2, ADAR, CYP2U1, TUBB4A, ERCC6, GAN, CLCN2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, CLPP, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADGRG1, COL4A1, FOLR1, SLC19A3, DAG1, SPART, FA2H, CYP7B1, NOTCH3, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, GJB1, EIF2B5, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, PPT1, PEX2, PLP1, NPC2, NPC1, IKBKG, IDS, GLA, GJC2, EIF2B1, ASPA, ARSA, AGA, MTFMT, FARS2, CYP27A1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, GALC, NDUFS2, NDUFV1, NDUFS1, SDHAF1, MOCS1, NDUFS8, SURF1, COX15, TCIRG1, PAH, ACOX1, ALDH3A2, ALDH5A1, HEXA, ABCD1, OTC, D2HGDH, TYMP, SPG7, COQ2, GFM1, TUFM, DARS2, MRPS22, SUCLA2, SDHB, SLC25A12, IDH2, SCP2, NUBPL, HMGCL, NFU1, BOLA3, DGUOK, DNM1L, COQ9, FH, RRM2B, SLC25A4, HSPD1, NDUFS4, POLG, OCRL, GLB1, PSAP, CPS1, HSD17B4, ADSL, TWNK, ATP7B, ATP7A, TYROBP, PC Specificity 9 % Genes 100 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1 Specificity 1 % Genes 62 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL Specificity 3 % Genes 93 %
Hepatic and pancreatic diseases - panels. By MGZ Medical Genetics Center in Germany. UTP4, SLC27A5, ALAD, MYO5B, NR1H4, HMBS, UROD, PEX11B, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, UROS , (...) View the complete list with 49 more genes Panel GTR000552436 complete gene list UTP4, SLC27A5, ALAD, MYO5B, NR1H4, HMBS, UROD, PEX11B, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX14, TJP2, PEX6, CYP7B1, TMEM216, PKHD1, PEX1, SERPINA1, PEX7, PEX2, NPC2, NPC1, LIPA, DHCR7, CFTR, CPOX, PPOX, FECH, MKS1, CYP27A1, ASS1, GALT, MPV17, FAH, DGUOK, SMPD1, SLC25A13, ALAS2, POLG, NPHP4, NPHP1, NPHP3, JAG1, CC2D2A, TRMU, HNF1B, INVS, ATP8B1, ATP7B, ABCB4, ABCB11, HFE Specificity 18 % Genes 93 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR Specificity 3 % Genes 93 %
Mental Retardation and Dysmorphology - panels. By MGZ Medical Genetics Center in Germany. GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...) View the complete list with 323 more genes Panel GTR000552438 complete gene list GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, CTC1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 2 % Genes 47 %
Syndromal Diseases - panels. By MGZ Medical Genetics Center in Germany. PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...) View the complete list with 322 more genes Panel GTR000552442 complete gene list PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 2 % Genes 47 %
Zellweger syndrome panel. By Centogene AG - the Rare Disease Company in Germany. PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2 Specificity 100 % Genes 93 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX10 Specificity 100 % Genes 8 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 2 % Genes 100 %
Peroxisomal Disorder Panel. By CeGaT GmbH in Germany. PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ABCD1, AMACR Specificity 82 % Genes 100 %
Ataxia and differential diagnoses Panel. By CeGaT GmbH in Germany. RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...) View the complete list with 184 more genes Panel GTR000522481 complete gene list RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1, ERCC5, SCYL1, RNF216, RNASEH1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, GRID2, LAMA1, SLC52A2, ATCAY, BEAN1, CACNA1G, ATP2B3, ATP8A2, RARS, UBA5, COX20, CA8, CCDC88C, DNAJC3, MARS2, VLDLR, ARL13B, RPGRIP1L, ERCC4, CP, WNT1, GBA2, UCHL1, KIF1C, ERCC6, GMPPB, NKX2-1, NALCN, CLCN2, NEU1, PEX10, PRPS1, DNMT1, POLR1C, ERCC3, ERCC2, GFAP, KCNJ10, PNKP, SNAP25, KCNA2, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, PRRT2, LMNB2, EPM2A, KCNC1, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE1, NHLRC1, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, TRAPPC11, SYNE1, VRK1, SETX, PNPLA6, BSCL2, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, AHI1, CSTB, EIF2B4, EIF2B2, EIF2B3, GJB1, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SLC17A5, SACS, PEX7, PEX2, MTTP, CLN6, MRE11, ATM, ATXN1, NPC2, NPC1, EIF2B1, GBA, ARSA, PDHX, WWOX, TPP1, APTX, PMM2, CYP27A1, FASTKD2, FXN, GCDH, L2HGDH, GALC, DLAT, NAGLU, NDUFS7, PHYH, HEXB, ALDH5A1, HEXA, ABCB7, ALG6, SPG7, COQ2, PDP1, FLVCR1, DNAJC19, TSFM, DARS2, COQ8A, SPR, NUBPL, MTPAP, TTC19, ACO2, PDSS1, PDSS2, COQ9, OPA3, AFG3L2, POLG, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, WFS1, OPA1, AMACR, INPP5E, PAX6, PRKCG, TWNK, AUH, ATP7B, BTD, UQCRQ, ABHD12, AARS2, FMR1 Specificity 1 % Genes 16 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel. By CeGaT GmbH in Germany. TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...) View the complete list with 155 more genes Panel GTR000522492 complete gene list TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM, OCLN, STXBP2, STX11, UNC13D, ERCC8, EARS2, TREM2, CSF1R, COX10, CTC1, RNASET2, AP4E1, ADAR, DDHD2, TUBB4A, IFIH1, ERCC6, GMPPB, GAN, AARS, CLCN2, SLC16A2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, ERCC3, ERCC2, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, KCNT1, FOLR1, LARGE1, LAMA2, POMT1, POMT2, SPG21, SPART, FA2H, CYP7B1, FKRP, NOTCH3, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, PLA2G6, PHGDH, EIF2B5, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PEX2, FKTN, PRF1, PLP1, NPC2, NPC1, IDS, GLA, GJC2, EIF2B1, ASPA, ARSA, AGA, SDHA, MTFMT, FARS2, TACO1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, GALC, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA1, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, APOPT1, PET100, NDUFA2, MPV17, ACOX1, PHYH, ALDH3A2, HEXA, ABCD1, D2HGDH, TYMP, SCO2, GFM1, TUFM, DARS2, SUCLA2, SLC25A12, SCP2, NUBPL, TTC19, HMGCL, NDUFAF1, TMEM70, NDUFA9, NDUFA12, NDUFAF2, FOXRED1, HSPD1, NDUFS4, POLG, OCRL, GLB1, PSAP, HSD17B4, MMACHC, C12orf65, BCS1L, AUH, ATP7B, ATP7A, TYROBP, PC, AARS2 Specificity 8 % Genes 100 %
Peroxisomal Disorders Panel. By CeGaT GmbH in Germany. PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ABCD1, AMACR Specificity 82 % Genes 100 %
Single gene testing PEX10. By CeGaT GmbH in Germany. PEX10 Specificity 100 % Genes 8 %
Leukodystrophy / Leukoencephalopathy Panel. By CeGaT GmbH in Germany. TBCK, PLEKHG2, VPS11, DARS, AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, HEPACAM, EARS2, TREM2, CSF1R, CTC1, RNASET2, ADAR , (...) View the complete list with 56 more genes Panel GTR000551348 complete gene list TBCK, PLEKHG2, VPS11, DARS, AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, HEPACAM, EARS2, TREM2, CSF1R, CTC1, RNASET2, ADAR, TUBB4A, IFIH1, AARS, CLCN2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, SOX10, POLR1C, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, NOTCH3, EIF2B4, EIF2B2, EIF2B3, EIF2B5, SUMF1, SLC17A5, PEX1, MLC1, PEX7, PEX2, PLP1, GJC2, EIF2B1, ASPA, ARSA, CYP27A1, GCDH, GBE1, L2HGDH, GALC, ACOX1, ALDH3A2, ABCD1, DARS2, SCP2, HSPD1, PSAP, HSD17B4, TYROBP, AARS2 Specificity 18 % Genes 100 %
Ataxia, autosomal recessive and X-linked Panel. By CeGaT GmbH in Germany. CWF19L1, SNX14, PMPCA, RUBCN, SLC9A1, STUB1, RNF216, PIK3R5, GRID2, ATCAY, ATP2B3, ATP8A2, UBA5, CA8, DNAJC3, MARS2, CP, KIF1C, PEX10, PNKP , (...) View the complete list with 26 more genes Panel GTR000551349 complete gene list CWF19L1, SNX14, PMPCA, RUBCN, SLC9A1, STUB1, RNF216, PIK3R5, GRID2, ATCAY, ATP2B3, ATP8A2, UBA5, CA8, DNAJC3, MARS2, CP, KIF1C, PEX10, PNKP, CTSF, PRICKLE1, GOSR2, SPTBN2, GRM1, TDP1, ANO10, SYT14, SYNE1, SETX, PLA2G6, TTPA, SACS, MRE11, ATM, WWOX, TPP1, APTX, FXN, HEXB, HEXA, ABCB7, SPG7, COQ8A, MTPAP, AFG3L2 Specificity 3 % Genes 8 %
Zellweger Spectrum Disorders. By Asper Biogene Asper Biogene LLC in Estonia. PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, PHYH Specificity 86 % Genes 93 %
Brain malformations. By Asper Biogene Asper Biogene LLC in Estonia. CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...) View the complete list with 125 more genes Panel GTR000553541 complete gene list CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3, NHEJ1, AKT3, PIK3R2, DHCR24, VLDLR, IER3IP1, RAB18, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, EFTUD2, KIF11, AP4M1, RAB3GAP2, TUBB4A, CHMP1A, PIEZO2, GMPPB, POMK, GPSM2, ATR, PCNT, CDK5RAP2, CEP152, TUBB2A, TSEN2, TSEN34, EXOSC3, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FAT4, TMEM231, LAMC3, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, ATRX, OFD1, KIF1BP, TCF4, PNKP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, ASPM, MCPH1, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, VRK1, DYNC1H1, WASHC5, FKRP, AHI1, TMEM216, SLC12A6, POMGNT1, PEX1, PEX2, FKTN, NBN, WDR62, DHCR7, CREBBP, ARX, PDHX, MKS1, ETFDH, ETFA, ETFB, DLAT, PDHA1, AMT, GLDC, GCSH, PDP1, RARS2, TUBA1A, PDHB, MECP2, SLC25A19, DLD, CEP290, NPHP1, TMEM67, SRD5A3, ATP6V0A2, CC2D2A, INPP5E, TUBB3 Specificity 8 % Genes 85 %
Retinal Dystrophy Panel. By Molecular Vision Laboratory in United States. CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...) View the complete list with 267 more genes Panel GTR000522537 complete gene list CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, TUBGCP6, TUBGCP4, PLK4, ZNF423, CEP164, CSPP1, PDE6D, IFT172, TCTN3, SLC25A46, B9D2, MT-TV, MT-TH, MT-ND4L, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, MT-ND5, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, ABCC6, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TMEM231, PRPS1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, CTSF, HCN1, KCTD7, PNPLA6, MT-ND4, MT-ND6, MT-ND1, AHI1, MT-TL1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, RP2, PRPF8, PRPF31, PEX6, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, LRP5, MMACHC, SPATA7, NEUROD1, OPN1LW, OPN1MW, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 5 % Genes 100 %
MVL Vision Panel. By Molecular Vision Laboratory in United States. CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...) View the complete list with 248 more genes Panel GTR000559625 complete gene list CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, TUBGCP6, TUBGCP4, PLK4, ZNF423, CEP164, CSPP1, PDE6D, IFT172, TCTN3, SLC25A46, MT-TV, MT-TH, MT-ND4L, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, CFH, MT-ND5, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, RBP4, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, CFAP410, UNC119, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TMEM231, PEX6, PRPS1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, CTSF, HCN1, KCTD7, PNPLA6, MT-ND4, MT-ND6, MT-ND1, MT-TL1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, TIMM8A, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, RP1, PDZD7, CHM, LRP5, MMACHC, SPATA7, NEUROD1, OPN1LW, OPN1MW, INVS, C12orf65, BEST1, USH1C, USH1G, ZNF513 Specificity 5 % Genes 100 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA, F8, F9, JAK3, THRB, F11, PGK1, DNAH5, CHST6, CASQ2, TRDN, THOC2, IL1RAPL1, SLC16A2, BRWD3, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, AFF2, HUWE1, PHF8, MVK, PEX10, NLGN4X, AP1S2, TPRN, TRIOBP, TMIE, PEX6, GJB3, TMC1, PRPS1, TMPRSS3, SLC4A11, STRC, POLR1C, OTOF, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, GRIA3, FGD1, IQSEC2, ATRX, MFSD8, PQBP1, DCX, POMT1, POMT2, TNNT1, SPART, L1CAM, BSND, COL4A4, CYP21A2, GNRHR, KCNJ11, DYSF, FKRP, CLCN1, AHI1, SPG11, ZFYVE26, GDAP1, MTMR2, SH3TC2, NDRG1, TMEM216, PKHD1, LAMC2, CLN5, CAPN3, TTPA, PEX1, MPL, MCOLN1, GRHPR, TH, UGT1A1, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, CTNS, NEB, G6PD, FKTN, LAMB3, HBA1, CLN8, CLN6, NBN, ATM, SMN1, RMRP, POU3F4, PLP1, PLOD1, NPC2, NPC1, LIPA, LDLR, IDUA, IDS, GLA, GJB2, DMD, DHCR7, GBA, FANCC, CFTR, ARX, ASPA, ARSA, AR, AIRE, IL2RG, GNMT, ARSB, AHCY, AGA, ADA, ABCD4, NR2E3, SLC6A8, CYP17A1, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, ALDH4A1, IVD, GALC, SUCLG1, MLYCD, MAN2B1, DBT, MUT, MMAB, MCEE, SGSH, NAGLU, HGSNAT, GNS, GALNS, CPT1A, SURF1, AGXT, PAH, PTS, ACOX1, HEXB, HEXA, LMBRD1, MMADHC, ABCD1, ACSL4, OTC, RP2, AGPS, MYO7A, ETHE1, EYS, AMT, GLDC, PCCB, SPG7, CERKL, ACADSB, CTSD, TSFM, TUFM, HAX1, P3H1, SUCLA2, RDH12, CNGA1, G6PC, TAT, HMGCL, FAH, RS1, CNGB1, PDE6A, DHDDS, PDHB, ACSF3, IDH3B, CDH23, WHRN, SLC26A4, MECP2, CRB1, GUCY2D, RPE65, RPGR, TULP1, FH, HADHA, PANK2, SLC25A13, DLD, PCDH15, USH2A, CLRN1, CEP290, NPHP1, TMEM67, CNGB3, NDP, ABCA4, OCRL, GLB1, GNPTAB, CPT2, CPS1, MTRR, GPR143, TYR, SLC45A2, TYRP1, RAX, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, HLCS, ARG1, USH1C, PC, USH1G, ALDOB, AIPL1, ACAT1, ACADVL, AGL, ACADS, ACADM, CD40LG, LDLRAP1, PCBD1, SLC46A1, EVC2, ABCB11, MCCC2, MCCC1, MTHFR, FMR1, F5, F2 Specificity 1 % Genes 24 %
Invitae Zellweger Spectrum Disorder Panel. By Invitae in United States. PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2, ACOX1, HSD17B4, AMACR Specificity 80 % Genes 93 %
Leukodistrophy. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, TREM2, CSF1R, RNASET2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14 , (...) View the complete list with 38 more genes Panel GTR000531594 complete gene list AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, TREM2, CSF1R, RNASET2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, SOX10, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, FA2H, NOTCH3, EIF2B4, EIF2B2, EIF2B3, EIF2B5, SUMF1, PEX1, MLC1, PEX7, PEX2, PLP1, GJC2, EIF2B1, ASPA, ARSA, SDHA, CYP27A1, GALC, NDUFV1, SDHAF1, PHYH, ABCD1, DARS2, SCP2, HSPD1, PSAP, HSD17B4, BEST1, TYROBP Specificity 23 % Genes 100 %
Peroxisomal disorders. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ABCD3, PEX11B, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ACOX1, PHYH, ABCD1, AGPS , (...) View the complete list with 4 more genes Panel GTR000531672 complete gene list ABCD3, PEX11B, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ACOX1, PHYH, ABCD1, AGPS, SCP2, DNM1L, HSD17B4, ABHD12 Specificity 55 % Genes 100 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2 Specificity 93 % Genes 100 %
Neonatal and Adult Cholestasis: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SLC27A5, NR1H4, CYP7A1, PEX11B, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, ABCG8, ABCG5, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3 , (...) View the complete list with 37 more genes Panel GTR000512639 complete gene list SLC27A5, NR1H4, CYP7A1, PEX11B, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, ABCG8, ABCG5, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TJP2, PEX6, CYP7B1, TMEM216, PKHD1, PEX1, UGT1A1, SERPINA1, PEX7, PEX2, NPC2, NPC1, LIPA, DHCR7, CFTR, MKS1, CYP27A1, MPV17, FAH, DGUOK, SMPD1, SLC25A13, POLG, NPHP4, NPHP1, NPHP3, JAG1, CC2D2A, TRMU, HNF1B, INVS, ATP8B1, ABCB4, ABCB11 Specificity 23 % Genes 100 %
Inheritest NGS, Comprehensive. By Integrated Genetics Westborough Integrated Genetics in United States. XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA , (...) View the complete list with 120 more genes Panel GTR000551402 complete gene list XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, PEX1, MPL, MCOLN1, LAMA3, GRHPR, SLC35A3, SLC26A2, SACS, PEX7, PPT1, NPHS1, NPHS2, PEX2, CTNS, NEB, MTTP, FKTN, LAMB3, COL4A3, CLN8, ADAMTS2, NBN, ATM, RMRP, NPC2, NPC1, IDUA, IDS, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, IL2RG, ARSB, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC25A20, SLC22A5, ASS1, LRPPRC, GALT, GCDH, CBS, GALC, MAN2B1, MANBA, MUT, MMAA, MMAB, NDUFV1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS7, SURF1, COX15, CTSA, AGXT, PAH, HEXB, ALDH3A2, HEXA, PDHA1, OTC, ETHE1, AMT, GLDC, PCCA, PCCB, GAMT, G6PC, HMGCL, FAH, DHDDS, SMPD1, HADHA, NDUFAF2, FOXRED1, NDUFS4, DLD, PCDH15, CLRN1, GLB1, GNPTAB, CPT2, CPS1, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, HLCS, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADM, FMR1 Specificity 5 % Genes 47 %
Zellweger syndrome spectrum, PEX10-related. By Integrated Genetics Westborough Integrated Genetics in United States. PEX10 Specificity 100 % Genes 8 %
Lysosomal Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ACY1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19 , (...) View the complete list with 86 more genes Panel GTR000509436 complete gene list ACY1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, COL11A2, TCF4, ATP13A2, MFSD8, DNAJC5, ASAH1, FOLR1, LAMA2, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, PPT1, CTNS, CLN8, CLN6, GPC3, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, HPD, ARSB, AGA, CLN3, TPP1, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, MAN2B1, MANBA, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CTSA, QDPR, CTSK, ALDH7A1, PHYH, HEXB, ALDH5A1, SUOX, GM2A, HEXA, LMBRD1, AMT, GLDC, GCSH, CTSD, GAMT, SMPD1, FH, GNE, PRODH, GLB1, GNPTAB, PSAP, COL2A1, ADSL, GAA, BTD, ARG1 Specificity 11 % Genes 85 %
Peroxisomal NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ABCD3, PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ACOX1, PHYH, ABCD1, AGPS, DNM1L , (...) View the complete list with 1 more genes Panel GTR000509459 complete gene list ABCD3, PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ACOX1, PHYH, ABCD1, AGPS, DNM1L, HSD17B4 Specificity 62 % Genes 100 %
Zellweger Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2 Specificity 100 % Genes 100 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT Specificity 3 % Genes 100 %
PEX10. By Fulgent Genetics Fulgent Genetics in United States. PEX10 Specificity 100 % Genes 8 %
Retinal Dystrophy Panel. By Blueprint Genetics in Finland. ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...) View the complete list with 240 more genes Panel GTR000552782 complete gene list ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1, COL18A1, LRP2, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP104, IFT172, TCTN3, SLC25A46, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CTC1, KIF11, SDCCAG8, WDPCP, BBIP1, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, SPP2, DHX38, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, DTHD1, GPR179, LRIT3, GNB3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, GNPTG, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CTNNB1, TMEM231, PEX6, PRPS1, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, PNPLA6, AHI1, TMEM216, TTPA, PEX1, PEX7, PEX2, MTTP, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, ALMS1, CLN3, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, KIAA0586, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, MMACHC, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 5 % Genes 100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel. By Blueprint Genetics in Finland. ACY1, MAN1B1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13 , (...) View the complete list with 82 more genes Panel GTR000552784 complete gene list ACY1, MAN1B1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, FUCA1, PEX6, COL11A2, TCF4, ATP13A2, MFSD8, ASAH1, FOLR1, LAMA2, LDB3, MYOT, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, PPT1, CTNS, CLN8, CLN6, GPC3, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, ARSB, AGA, CLN3, TPP1, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, MAN2B1, MANBA, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CTSA, QDPR, CTSK, ALDH7A1, PHYH, HEXB, ALDH5A1, SUOX, GM2A, HEXA, AMT, GLDC, CTSD, GAMT, SMPD1, FH, GNE, PRODH, GLB1, GNPTAB, PSAP, COL2A1, ADSL, GAA, BTD, ARG1 Specificity 9 % Genes 70 %
Cholestasis Panel. By Blueprint Genetics in Finland. SPINT2, MYO5B, NR1H4, SLC26A3, LCT, CREB3L3, HSD3B7, NOTCH2, TTC37, ABCC2, BAAT, VIPAS39, VPS33B, NEUROG3, LMF1, AKR1D1, PEX5, PEX12, PEX10, PEX26 , (...) View the complete list with 26 more genes Panel GTR000552643 complete gene list SPINT2, MYO5B, NR1H4, SLC26A3, LCT, CREB3L3, HSD3B7, NOTCH2, TTC37, ABCC2, BAAT, VIPAS39, VPS33B, NEUROG3, LMF1, AKR1D1, PEX5, PEX12, PEX10, PEX26, TJP2, PEX6, DCDC2, CYP7B1, TMEM216, PEX1, UGT1A1, SERPINA1, PEX2, NPC2, NPC1, CFTR, MKS1, FAH, DGUOK, SMPD1, SLC25A13, NPHP4, NPHP1, NPHP3, JAG1, TRMU, ATP8B1, ABCB4, ABCB11, EPCAM Specificity 16 % Genes 54 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1, EGF, SSR4, CNNM2, GPHN, PCK1, HMBS, TRPM6, UROD, SLC5A1, FMO3, LCT, HGD, UMPS, FXYD2, SLC7A9, PEX11B, GYG1, PEPD, FLNB, CLDN19, CLDN16, RBCK1, SLC6A19, ACY1, SLC30A10, ECHS1, LIPT1, CLPB, SERAC1, FAM111A, MAN1B1, SLC25A1, REN, AGPAT2, PLIN1, TBC1D4, LIPE, HJV, HAMP, TFR2, SI, SLC40A1, SLC39A4, INSR, TPMT, B3GLCT, PTF1A, AKT2, SLC2A2, HADH, PCBD1, SLC46A1, TMEM165, COG5, COG6, ALG11, COG4, NBAS, TRIM37, GNPAT, CD320, PGK1, ADAR, IFIH1, ZMPSTE24, MYH3, AMPD1, FBXL4, PRKAG2, CAV1, CNNM4, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, EBP, MAGT1, LAMP2, HCFC1, SEC23B, NEU1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, PRPS1, COL11A2, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, ATP13A2, MFSD8, FLNA, ASAH1, ALG13, EPM2A, FOLR1, SLC35A2, NHLRC1, DPM2, LAMA2, ANO10, KCNA1, KCNJ2, RYR1, CACNA1S, BSCL2, CASR, KCNJ11, GCH1, SCN4A, DYSF, COQ4, CAV3, FKRP, CLCN1, LMNA, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, SLC7A7, SERPINA1, PEX7, PPT1, PEX2, CTNS, FKTN, CLN8, CLN6, GPC3, SLC2A1, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, PNP, HPD, GNMT, MOGS, DPAGT1, DOLK, SUGCT, ARSB, APRT, AHCY, AGA, ADA, ABCD4, PDHX, SLC6A8, CPOX, PPOX, FECH, CLN3, TPP1, GLRX5, ASL, APTX, PMM2, MGAT2, SLC25A20, SLC22A5, ASS1, SLC3A1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CBS, L2HGDH, NAGS, SLC25A15, IVD, OXCT1, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFS1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, ISCU, CTSA, MPV17, OAT, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, LPIN1, HEXB, ALDH5A1, SUOX, GM2A, HEXA, TCN2, LMBRD1, MMADHC, XDH, ABCD1, PHKA1, TAZ, TIMM8A, PDHA1, OTC, AGPS, D2HGDH, ALG3, MPI, TYMP, ALG6, SLC35A1, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, ALG2, LDB3, MYOT, ANO5, CLCNKB, BSND, SLC12A3, UMOD, HNF4A, PDX1, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, GFM1, MPDU1, TK2, ACADSB, CTSD, POLG2, PNPLA2, SLC25A3, TUSC3, COG8, COG1, ACAD8, GYS1, RFT1, COQ8A, SUCLA2, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, TMEM126A, PHKG2, CAVIN1, IDH2, G6PC, PYGL, TAT, HMGCL, FAH, PHKA2, NFU1, SARS2, DHDDS, TMEM70, PDHB, ACSF3, BOLA3, DGUOK, DNM1L, AGK, LIAS, DDOST, DHODH, COQ6, PDSS1, PDSS2, COQ9, SMPD1, FH, OPA3, HADHA, MFN2, SLC25A13, ALAS2, NDUFAF2, RRM2B, FOXRED1, GCK, SLC25A4, POLG, DLD, HPRT1, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, GLB1, GNPTAB, PSAP, WFS1, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, SLC37A4, MTR, HNF1B, AMN, COL2A1, PPARG, MMACHC, HNF1A, ADSL, GAA, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATP7B, BTD, HLCS, ARG1, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1, MTHFR, HFE Specificity 3 % Genes 100 %
Peroxisomal Disorders Panel. By Blueprint Genetics in Finland. ABCD3, PEX11B, TRIM37, GNPAT, DYM, EBP, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, SUGCT , (...) View the complete list with 7 more genes Panel GTR000552755 complete gene list ABCD3, PEX11B, TRIM37, GNPAT, DYM, EBP, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, SUGCT, AGXT, ACOX1, PHYH, ABCD1, AGPS, HSD17B4, AMACR Specificity 49 % Genes 100 %
Zellweger syndrome. By Bioarray in Spain. PEX10 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 6B. By Bioarray in Spain. PEX10 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 6A. By Bioarray in Spain. PEX10 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX10 Specificity 100 % Genes 8 %
CarrierMap. By Recombine in United States. VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37, EDA, CIITA, COL7A1, SLC39A4, ERCC8, RAG2, VSX2, EIF2AK3, LPL, EVC2, EVC, FANCG, FANCA, F8, F9, SRD5A2, MEFV, TECPR2, ERCC6, DNAI1, DNAI2, LYST, CTSC, EXOSC3, POR, RAB23, CHRNG, PEX10, LOXHD1, PEX6, PRPS1, SLC4A11, MYO15A, ATP6V1B1, VPS13A, VPS13B, MFSD8, TSEN54, SGCD, EMD, VRK1, MTM1, COL4A5, BSND, SLC12A3, COL4A4, CYP21A2, KCNJ11, LHCGR, DYSF, FKRP, NTRK1, GJB1, TMEM216, TGM1, RAPSN, PKHD1, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, BRIP1, NBN, ATM, SMN1, RMRP, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AR, AIRE, IL2RG, ARSB, AGA, ADA, NR2E3, CYP17A1, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, BBS12, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, GALK1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, CBS, SLC25A15, IVD, GALC, MLYCD, MAN2B1, DBT, MUT, MMAA, MMAB, NDUFS6, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, MPV17, TCIRG1, AGXT, PAH, PTS, ACOX1, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, PDHA1, OTC, PUS1, MYO7A, ETHE1, MPI, TYMP, ALG6, LCA5, AMT, GLDC, PCCA, PCCB, CERKL, HADHB, HAX1, RARS2, RDH12, GAMT, G6PC, TAT, FAM161A, HSD3B2, HMGCL, FAH, RS1, DHDDS, HPS3, PDHB, HPS1, CDH23, SLC26A4, CYP11B2, SMPD1, GUCY2D, RLBP1, RPE65, FH, OPA3, HADHA, SLC25A13, CYP11B1, POLG, DLD, PCDH15, USH2A, TRIM32, CLRN1, CEP290, CYP1B1, ABCA4, OCRL, GNE, GLB1, GNPTAB, TRMU, CPT2, HSD17B4, ABCA12, SLC37A4, TYR, CHM, SLC45A2, STAR, TYRP1, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, USH1C, PC, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, ABCB11, MCCC2, MCCC1, HPS4, MTHFR, FMR1 Specificity 2 % Genes 31 %
ZELLWEGER SYNDROME – NGS –PANEL. By Laboratorio de Genetica Clinica SL in Spain. PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2 Specificity 100 % Genes 85 %
Zellweger Syndrome Type 6A , Sequencing PEX10 Gene. By Reference Laboratory Genetics in Spain. PEX10 Specificity 100 % Genes 8 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes. By Reference Laboratory Genetics in Spain. AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, TREM2, CSF1R, RNASET2, SLC16A2, PEX5, PEX12, PEX10, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6 , (...) View the complete list with 36 more genes Panel GTR000559535 complete gene list AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, TREM2, CSF1R, RNASET2, SLC16A2, PEX5, PEX12, PEX10, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, SOX10, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, FA2H, NOTCH3, EIF2B4, EIF2B2, EIF2B3, EIF2B5, SUMF1, PEX1, MLC1, PEX7, PEX2, PLP1, GJC2, EIF2B1, ASPA, ARSA, SDHA, CYP27A1, GALC, NDUFV1, SDHAF1, PHYH, ABCD1, DARS2, HSPD1, PSAP, HSD17B4, BEST1, TYROBP Specificity 22 % Genes 93 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes. By Reference Laboratory Genetics in Spain. AGXT2, FAR1, PEX11B, TRIM37, GNPAT, GNPTG, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14 , (...) View the complete list with 58 more genes Panel GTR000559870 complete gene list AGXT2, FAR1, PEX11B, TRIM37, GNPAT, GNPTG, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, MFSD8, DNAJC5, ASAH1, CLN5, SUMF1, SLC17A5, PEX1, MCOLN1, PEX7, PPT1, PEX2, CTNS, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GBA, ARSA, ARSB, AGA, CLN3, TPP1, GALC, MAN2B1, MANBA, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CTSA, AGXT, ACOX1, CTSK, PHYH, HEXB, GM2A, HEXA, LMBRD1, AGPS, CTSD, SCP2, CAT, DNM1L, SMPD1, GLB1, GNPTAB, PSAP, HSD17B4, AMACR, GAA Specificity 17 % Genes 100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes. By Reference Laboratory Genetics in Spain. AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7 , (...) View the complete list with 91 more genes Panel GTR000559873 complete gene list AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, VRK1, DYNC1H1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, ACTA1, TPM3, RYR1, CACNA1S, SELENON, FHL1, BAG3, BSCL2, ATP2A1, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, TOR1A, SCN4A, DYSF, UBA1, CAV3, FKRP, PABPN1, CLCN1, LMNA, DNM2, TRPV4, RAPSN, CAPN3, SGCG, POMGNT1, PEX1, SGCB, SGCA, PEX7, PEX2, NEB, FKTN, DOK7, CHRNE, DMD, PMM2, PYGM, CHAT, PHKA1, DPM1, PNPLA2, DPM3, CAVIN1, VCP, CRYAB, TRIM32, GNE, GAA Specificity 10 % Genes 77 %
Zellweger Syndrome , Panel Massive Sequencing (NGS) 14 Genes. By Reference Laboratory Genetics in Spain. PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2 Specificity 93 % Genes 100 %
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes. By Reference Laboratory Genetics in Spain. PCK1, GNPAT, GNPTG, HYAL1, NAGA, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, MFSD8, DNAJC5, CTSF , (...) View the complete list with 62 more genes Panel GTR000560011 complete gene list PCK1, GNPAT, GNPTG, HYAL1, NAGA, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, MFSD8, DNAJC5, CTSF, ASAH1, KCTD7, SIL1, CLN5, SUMF1, SLC17A5, PEX1, MCOLN1, PEX7, PPT1, PEX2, CTNS, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GBA, ARSA, ARSB, AGA, PDHX, CLN3, TPP1, GALC, DLAT, MAN2B1, MANBA, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CTSA, ACOX1, PHYH, HEXB, GM2A, HEXA, ABCD1, PDHA1, AGPS, GRN, PDP1, CTSD, SCP2, PCK2, PDHB, SMPD1, DLD, GNE, GLB1, GNPTAB, PSAP, HSD17B4, PC, FBP1, ALDOB Specificity 15 % Genes 93 %
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...) View the complete list with 139 more genes Panel GTR000553929 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, IL2RG, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, OTC, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, MECP2, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, OCRL, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A, FMR1 Specificity 2 % Genes 16 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...) View the complete list with 129 more genes Panel GTR000553930 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CTNS, NEB, HBA2, MTTP, FKTN, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, LAMB3, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A Specificity 2 % Genes 16 %
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...) View the complete list with 151 more genes Panel GTR000560763 complete gene list GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, CEMIP, RIPOR2, TMPRSS3, TECTA, MT-TS2, MT-TS1, SLC4A11, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, EDNRA, PAX3, DCDC2, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, ACTB, SALL1, TBX1, KCNJ10, NR2F1, TBC1D24, COL4A5, SLC12A1, BSND, COL4A4, FGFR1, PMP22, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, SLC22A4, ALMS1, MANBA, AIFM1, TIMM8A, MYO7A, CISD2, KARS, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BCS1L, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 16 %
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States. LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR , (...) View the complete list with 132 more genes Panel GTR000323596 complete gene list LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TJP2, S1PR2, SLC26A5, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, RIPOR2, TMPRSS3, TECTA, MT-TS1, TCOF1, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, BDP1, ADCY1, ACTG1, TBX1, KCNJ10, TBC1D24, COL4A5, BSND, COL4A4, FGFR1, MT-TL1, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, SLC22A4, ALMS1, AIFM1, TIMM8A, MYO7A, CISD2, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, TWNK, USH1C, USH1G Specificity 2 % Genes 16 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...) View the complete list with 41 more genes Panel GTR000531740 complete gene list PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2, EVC, EFNB1, SRD5A2, FGF10, NR5A1, FBXL4, TP63, GLI3, PCNT, WDR35, FAT4, MED12, MID1, SALL1, ZEB2, SETBP1, ATRX, FLNA, FGFR1, FIG4, PEX1, HBA1, GPC3, CDKN1C, FGFR2, PTPN11, DHCR7, CREBBP, ARX, AR, FGFR3, SOX2, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, MKKS, PITX2, HNF1B, WT1 Specificity 2 % Genes 8 %
PEX1. Sequencing of the exons 13, 15, 18 and 19. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX1 Specificity 100 % Genes 8 %
PEX1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX1 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX1 gene). By CGC Genetics in Portugal. PEX1 Specificity 100 % Genes 8 %
Zellweger syndrome (deletion/duplication analysis of PEX1 gene). By CGC Genetics in Portugal. PEX1 Specificity 100 % Genes 8 %
Zellweger syndrome (deletion/duplication analysis of PEX1 gene). By CGC Genetics in Portugal. PEX1 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PEX1 Specificity 100 % Genes 8 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...) View the complete list with 186 more genes Panel GTR000553215 complete gene list CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HOXA4, HOXB6, BMP7, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, FGF10, NR5A1, SYCP3, RIPK4, FBXL4, DNAH1, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SEMA3E, SOX10, CLPP, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, EIF2B4, EIF2B2, EIF2B3, LMNA, FIG4, EIF2B5, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, EIF2B1, DHCR7, CREBBP, CHD7, CFTR, ARX, AR, AIRE, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, GALT, CYB5A, BCOR, HCCS, CYP11A1, DHCR24, RBBP8, EVC2, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE Specificity 1 % Genes 8 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...) View the complete list with 138 more genes Panel GTR000553216 complete gene list CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, PSMC3IP, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, DHCR24, RBBP8, EVC2, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, FGF10, NR5A1, RIPK4, FBXL4, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SOX10, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, LMNA, FIG4, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, DHCR7, CREBBP, CHD7, ARX, AR, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYB5A, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE Specificity 1 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX1 Specificity 100 % Genes 8 %
Refsum disease panel. By Centogene AG - the Rare Disease Company in Germany. PEX26, PEX1, PEX7, PEX2, PHYH Specificity 60 % Genes 24 %
Usher Syndrome Panel. By CeGaT GmbH in Germany. PEX6, CIB2, PEX1, MYO7A, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G, ABHD12 Specificity 14 % Genes 16 %
Refsum Disease Panel. By CeGaT GmbH in Germany. PEX5, PEX26, PEX3, PEX1, PEX7, PEX2, PHYH Specificity 72 % Genes 39 %
Single gene testing PEX1. By CeGaT GmbH in Germany. PEX1 Specificity 100 % Genes 8 %
PEX1 - Zellweger Syndorme spectrum. By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden. PEX1 Specificity 100 % Genes 8 %
Zellweger syndrome, PEX1 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. PEX1 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 1A (Zellweger). By Praxis fuer Humangenetik Wien in Austria. PEX1 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 1B. By Praxis fuer Humangenetik Wien in Austria. PEX1 Specificity 100 % Genes 8 %
Family Prep Screen. By Counsyl in United States. BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...) View the complete list with 90 more genes Panel GTR000552033 complete gene list BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, HBA2, FKTN, LAMB3, HBA1, CLN8, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, AGA, CLN3, TPP1, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, CPT1A, AGXT, PAH, CTSK, ALDH3A2, HEXA, MPI, G6PC, FAH, RS1, SLC26A4, SMPD1, OPA3, HADHA, DLD, PCDH15, CLRN1, CNGB3, GNE, CPT2, HSD17B4, SLC37A4, CHM, HBB, GAA, BCS1L, BCKDHB, ATP7B, BTD, ALPL, ALDOB, ACADVL, AGL, ACADS, ACADM, MTHFR, HFE, FMR1, F5, F2 Specificity 1 % Genes 8 %
Peroxisome biogenesis disorder 1B. By MedGene in Slovakia. PEX1 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 1A (Zellweger). By MedGene in Slovakia. PEX1 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-Related: PEX1 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX1 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-Related: PEX1 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX1 Specificity 100 % Genes 8 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...) View the complete list with 127 more genes Panel GTR000523283 complete gene list HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2, CLN5, CAPN3, ABCC8, TTPA, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, HBA2, G6PD, FKTN, LAMB3, HBA1, CLN8, NBN, ATM, SMN1, RMRP, IDUA, IDS, GLA, GJB6, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, ARSB, AGA, CLN3, TPP1, ASL, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, DBT, MUT, MMAA, MMAB, SGSH, NAGLU, GALNS, GUSB, CPT1A, AGXT, PAH, CTSK, HEXB, ALDH3A2, HEXA, OTC, MPI, G6PC, FAH, RS1, SLC26A4, MECP2, SMPD1, FH, OPA3, HADHA, PANK2, DLD, PCDH15, CLRN1, CNGB3, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, TYR, CHM, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, HFE, FMR1 Specificity 1 % Genes 8 %
Zellweger Syndrome Spectrum, PEX1-Related, includes Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, and Zellweger Syndrome (PEX1). By Integrated Genetics Westborough Integrated Genetics in United States. PEX1 Specificity 100 % Genes 8 %
Eye Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...) View the complete list with 118 more genes Panel GTR000506412 complete gene list RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1, RBP3, PRPF3, NR2E3, PAX2, EFEMP1, TIMP3, MYOC, RP9, CLN3, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP4V2, GRM6, OAT, PHYH, BCOR, TIMM8A, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, FSCN2, CERKL, RGS9, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, MERTK, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, PRPH2, PCDH15, NPHP4, TRIM32, CEP290, MKKS, NPHP1, NPHP3, KCNJ13, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, OPTN, RP1, RB1, CHM, PAX6, COL2A1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 2 % Genes 16 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 3 % Genes 62 %
Neuromuscular NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AMPD3, TNNI2, AMPD1, RYR2, PEX5, PEX12, PEX26, PEX3, PEX14, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, SGCD, TCAP, POMT1 , (...) View the complete list with 30 more genes Panel GTR000509454 complete gene list AMPD3, TNNI2, AMPD1, RYR2, PEX5, PEX12, PEX26, PEX3, PEX14, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, TNNT1, TPM2, ACTA1, TPM3, RYR1, SELENON, MYOT, ANO5, DES, TTN, SGCE, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, PEX1, SGCB, SGCA, PEX2, NEB, FKTN, DMD, PMM2, TRIM32 Specificity 16 % Genes 62 %
Retinitis Pigmentosa NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7 , (...) View the complete list with 68 more genes Panel GTR000509465 complete gene list RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, PHYH, RP2, PRPF8, PRPF31, CA4, EYS, FSCN2, CERKL, FLVCR1, IQCB1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, SAG, TULP1, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, MKKS, NPHP1, NPHP3, ARL6, CACNA1F, ABCA4, WFS1, RP1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 4 % Genes 24 %
PEX1. By Fulgent Genetics Fulgent Genetics in United States. PEX1 Specificity 100 % Genes 8 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 2 % Genes 62 %
Comprehensive Hearing Loss and Deafness Panel. By Blueprint Genetics in Finland. WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E , (...) View the complete list with 159 more genes Panel GTR000552698 complete gene list WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, SALL1, KCNJ10, SPATA5, TBC1D24, SLC33A1, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, MET, CDKN1C, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, ALMS1, SUCLG1, MAN2B1, MANBA, AIFM1, TIMM8A, MYO7A, SUCLA2, KARS, MSRB3, DIABLO, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, TRMU, HSD17B4, EYA4, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, USH1G, ABHD12 Specificity 2 % Genes 24 %
Usher Syndrome Panel. By Blueprint Genetics in Finland. CEP78, CIB2, PEX1, MYO7A, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G, ABHD12 Specificity 7 % Genes 8 %
Syndromic Hearing Loss Panel. By Blueprint Genetics in Finland. FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1 , (...) View the complete list with 66 more genes Panel GTR000552639 complete gene list FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, LARS2, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, DNMT1, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, CLPP, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, ACTG1, SALL1, KCNJ10, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, CDKN1C, CHD7, HARS2, ALMS1, MAN2B1, MANBA, TIMM8A, MYO7A, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, USH1G, ABHD12 Specificity 4 % Genes 24 %
Retinitis Pigmentosa Panel. By Blueprint Genetics in Finland. REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140 , (...) View the complete list with 90 more genes Panel GTR000552739 complete gene list REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140, CFAP410, GNPTG, MVK, VPS13B, OFD1, AHI1, TTPA, PEX1, PEX7, PEX2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, RDH5, CLN3, BBS2, BBS1, CYP4V2, HK1, HGSNAT, OAT, PHYH, RP2, PRPF8, PRPF31, CA4, PITPNM3, EYS, RIMS1, LCA5, C1QTNF5, CERKL, FLVCR1, TOPORS, SEMA4A, SNRNP200, PRCD, RDH12, KLHL7, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, RS1, CNGB1, RGR, PDE6A, DHDDS, MERTK, PRPF6, C8orf37, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, PRPH2, USH2A, TTC8, CLRN1, CEP290, ARL6, MFRP, ABCA4, INPP5E, RP1, CHM, PRKCG, SPATA7, BEST1, USH1C, AIPL1, ZNF513, ABHD12 Specificity 2 % Genes 16 %
Zellweger syndrome. By Bioarray in Spain. PEX1 Specificity 100 % Genes 8 %
ZELLWEGER SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. PEX12, PEX26, PEX6, PEX1, PEX2 Specificity 100 % Genes 39 %
Zellweger Syndrome Type 1A , Sequencing PEX1 Gene. By Reference Laboratory Genetics in Spain. PEX1 Specificity 100 % Genes 8 %
Refsum Disease , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. PEX26, PEX1, PEX2, PHYH Specificity 75 % Genes 24 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...) View the complete list with 116 more genes Panel GTR000560383 complete gene list HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2, CLN5, CAPN3, ABCC8, TTPA, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, FKTN, LAMB3, CLN8, NBN, ATM, SMN1, RMRP, NPC2, NPC1, IDUA, GJB6, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, ARSB, AGA, CLN3, TPP1, ASL, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, DBT, MUT, MMAA, MMAB, SGSH, NAGLU, GALNS, GUSB, CPT1A, AGXT, PAH, CTSK, HEXB, ALDH3A2, HEXA, MPI, G6PC, FAH, SLC26A4, SMPD1, FH, OPA3, HADHA, PANK2, DLD, PCDH15, CLRN1, CNGB3, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, TYR, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, HFE Specificity 1 % Genes 8 %
PEX6. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX6 Specificity 100 % Genes 8 %
PEX6. Sequencing of the exon 1. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX6 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX6 gene). By CGC Genetics in Portugal. PEX6 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX6 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PEX6 Specificity 100 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX6 Specificity 100 % Genes 8 %
Single gene testing PEX6. By CeGaT GmbH in Germany. PEX6 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-Related: PEX6 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX6 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-Related: PEX6 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX6 Specificity 100 % Genes 8 %
Zellweger syndrome spectrum, PEX6-related. By Integrated Genetics Westborough Integrated Genetics in United States. PEX6 Specificity 100 % Genes 8 %
PEX6. By Fulgent Genetics Fulgent Genetics in United States. PEX6 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 4A. By Bioarray in Spain. PEX6 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 4B. By Bioarray in Spain. PEX6 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX6 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX6 Specificity 100 % Genes 8 %
Zellweger Syndrome Type 4A , Sequencing PEX6 Gene. By Reference Laboratory Genetics in Spain. PEX6 Specificity 100 % Genes 8 %
PEX14. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX14 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX14 gene). By CGC Genetics in Portugal. PEX14 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene. By PreventionGenetics PreventionGenetics in United States. PEX14 Specificity 100 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX14 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX14-Related: PEX14 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX14 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX14-Related: PEX14 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX14 Specificity 100 % Genes 8 %
PEX14. By Fulgent Genetics Fulgent Genetics in United States. PEX14 Specificity 100 % Genes 8 %
Chondrodysplasia Punctata Panel. By Blueprint Genetics in Finland. ARSE, GNPAT, NSDHL, EBP, PEX19, PEX14, LBR, PEX7, AGPS Specificity 23 % Genes 16 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...) View the complete list with 288 more genes Panel GTR000561533 complete gene list IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, IGF1R, TBX3, MATN3, IGF1, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, CEP63, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, CCNQ, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RTTN, WNT5A, CSPP1, SRCAP, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, STAT5B, EXT1, EXT2, AKT1, INSR, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, RBBP8, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, GJA1, GNAS, TRIM37, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, LHX3, LHX4, TBX19, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, SOX3, EBP, FANCB, MBTPS2, PTH1R, CANT1, WDR35, KAT6B, PEX19, PEX14, LZTR1, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, ACTG1, ACTB, LBR, SETBP1, FGD1, ANKRD11, FLNA, CENPJ, HSPG2, ANO5, FGF23, PHEX, GHR, GH1, POU1F1, CASR, SHOX, FGFR1, GHRHR, NF1, LMNA, TRPV4, SLC26A2, PEX7, PROP1, PRKAR1A, ACP5, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, FGFR2, VDR, SOS1, SHOC2, RUNX2, RMRP, PTPN11, NRAS, MAP2K1, KRAS, IDS, HRAS, DHCR7, CREBBP, COL10A1, BRAF, FANCC, FGFR3, ARSB, COL5A2, COL5A1, LMX1B, HESX1, SOX2, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, RAF1, OTX2, PITX2, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, BCS1L, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 16 %
Peroxisome biogenesis disorder 13A. By Bioarray in Spain. PEX14 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX14 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX14 Specificity 100 % Genes 8 %
Zellweger Syndrome Type 13A , Sequencing PEX14 Gene. By Reference Laboratory Genetics in Spain. PEX14 Specificity 100 % Genes 8 %
PEX12. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX12 Specificity 100 % Genes 8 %
PEX12. Sequencing of the exons 2 and 3. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX12 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX12 gene). By CGC Genetics in Portugal. PEX12 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX12 Gene. By PreventionGenetics PreventionGenetics in United States. PEX12 Specificity 100 % Genes 8 %
Neuropathy. By MGZ Medical Genetics Center in Germany. KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...) View the complete list with 102 more genes Panel GTR000521130 complete gene list KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10, CTDP1, SLC5A7, TNNT2, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, PDK3, PLEKHG5, MARS, SMAD3, LAS1L, PEX12, MYH14, PRPS1, DNMT1, SCN9A, TDP1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, UBQLN2, VAPB, ANG, TARDBP, DCTN1, SETX, FUS, ALS2, KIF1A, BSCL2, NIPA1, KIF5A, SPAST, MATR3, INF2, SPG11, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, SACS, PLP1, ELP1, SOD1, SEPT9, CYP27A1, FXN, GBE1, HK1, NDUFAF5, SURF1, HEXA, AIFM1, PDHA1, SQSTM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, VCP, HADHA, MFN2, GARS, POLG, AMACR, OPTN, FBLN5, GAA, C12orf65, ATP7A, ABHD12, TTR Specificity 1 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX12 Specificity 100 % Genes 8 %
Single gene testing PEX12. By CeGaT GmbH in Germany. PEX12 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 3A (Zellweger syndrome). By Praxis fuer Humangenetik Wien in Austria. PEX12 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 3A (Zellweger syndrome). By MedGene in Slovakia. PEX12 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX12-Related: PEX12 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX12 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX12-Related: PEX12 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX12 Specificity 100 % Genes 8 %
Zellweger syndrome spectrum, PEX12-related. By Integrated Genetics Westborough Integrated Genetics in United States. PEX12 Specificity 100 % Genes 8 %
PEX12. By Fulgent Genetics Fulgent Genetics in United States. PEX12 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX12 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 3A. By Bioarray in Spain. PEX12 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX12 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 3B. By Bioarray in Spain. PEX12 Specificity 100 % Genes 8 %
Zellweger Syndrome Type 3A , Sequencing PEX12 Gene. By Reference Laboratory Genetics in Spain. PEX12 Specificity 100 % Genes 8 %
PEX19. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX19 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX19 gene). By CGC Genetics in Portugal. PEX19 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX19 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PEX19 Specificity 100 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX19 Specificity 100 % Genes 8 %
PEX19. By Fulgent Genetics Fulgent Genetics in United States. PEX19 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 12A. By Bioarray in Spain. PEX19 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX19 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX19 Specificity 100 % Genes 8 %
Zellweger Syndrome Type 12A , Sequencing PEX19 Gene. By Reference Laboratory Genetics in Spain. PEX19 Specificity 100 % Genes 8 %
PEX13. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX13 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX13 gene). By CGC Genetics in Portugal. PEX13 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX13 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PEX13 Specificity 100 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX13 Specificity 100 % Genes 8 %
PEX13. By Fulgent Genetics Fulgent Genetics in United States. PEX13 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 11A. By Bioarray in Spain. PEX13 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX13 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX13 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 11B. By Bioarray in Spain. PEX13 Specificity 100 % Genes 8 %
Zellweger Syndrome Type 11A , Sequencing PEX13 Gene. By Reference Laboratory Genetics in Spain. PEX13 Specificity 100 % Genes 8 %
PEX26. Sequencing of the exons 2 and 3. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX26 Specificity 100 % Genes 8 %
PEX26. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX26 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX26 gene). By CGC Genetics in Portugal. PEX26 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX26 Gene. By PreventionGenetics PreventionGenetics in United States. PEX26 Specificity 100 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX26 Specificity 100 % Genes 8 %
Single gene testing PEX26. By CeGaT GmbH in Germany. PEX26 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX26-Related: PEX26 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX26 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX26-Related: PEX26 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX26 Specificity 100 % Genes 8 %
Zellweger syndrome spectrum, PEX26-related. By Integrated Genetics Westborough Integrated Genetics in United States. PEX26 Specificity 100 % Genes 8 %
PEX26. By Fulgent Genetics Fulgent Genetics in United States. PEX26 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 7B. By Bioarray in Spain. PEX26 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX26 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX26 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 7A. By Bioarray in Spain. PEX26 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 14B (sequence analysis of PEX11B gene). By CGC Genetics in Portugal. PEX11B Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX11B Gene. By PreventionGenetics PreventionGenetics in United States. PEX11B Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 14B. By Centogene AG - the Rare Disease Company in Germany. PEX11B Specificity 100 % Genes 8 %
PEX11B. By Fulgent Genetics Fulgent Genetics in United States. PEX11B Specificity 100 % Genes 8 %
PEX5. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX5 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX5 gene). By CGC Genetics in Portugal. PEX5 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene. By PreventionGenetics PreventionGenetics in United States. PEX5 Specificity 100 % Genes 8 %
Chondrodysplasia punctata and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. FAR1, ARSE, MGP, GNPAT, NSDHL, EBP, PEX5, LBR, PEX7, AGPS Specificity 10 % Genes 8 %
Chondrodysplasia punctata and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. FAR1, ARSE, MGP, GNPAT, NSDHL, EBP, PEX5, LBR, PEX7, AGPS Specificity 10 % Genes 8 %
Chondrodysplasia punctata and related disorders NGS panel. By Connective Tissue Gene Tests in United States. FAR1, ARSE, MGP, GNPAT, NSDHL, EBP, PEX5, LBR, PEX7, AGPS Specificity 10 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX5 Specificity 100 % Genes 8 %
Single gene testing PEX5. By CeGaT GmbH in Germany. PEX5 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX5-Related: PEX5 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX5 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX5-Related: PEX5 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX5 Specificity 100 % Genes 8 %
PEX5. By Fulgent Genetics Fulgent Genetics in United States. PEX5 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX5 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 2A. By Bioarray in Spain. PEX5 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX5 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 2b. By Bioarray in Spain. PEX5 Specificity 100 % Genes 8 %
Zellweger Syndrome Type 2A , Sequencing PEX5 Gene. By Reference Laboratory Genetics in Spain. PEX5 Specificity 100 % Genes 8 %
PEX16. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX16 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX16 gene). By CGC Genetics in Portugal. PEX16 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene. By PreventionGenetics PreventionGenetics in United States. PEX16 Specificity 100 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX16 Specificity 100 % Genes 8 %
PEX16. By Fulgent Genetics Fulgent Genetics in United States. PEX16 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX16 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 8B. By Bioarray in Spain. PEX16 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 8A. By Bioarray in Spain. PEX16 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX16 Specificity 100 % Genes 8 %
Zellweger Syndrome Type 8A , Sequencing PEX16 Gene. By Reference Laboratory Genetics in Spain. PEX16 Specificity 100 % Genes 8 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA , (...) View the complete list with 19 more genes Panel GTR000553933 complete gene list TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, BBS2, PMM2, GALT, HEXA, G6PC, FAH, DHDDS, SMPD1, DLD, PCDH15, CLRN1, CPT2, BCKDHB, ATP7B, FMR1 Specificity 3 % Genes 8 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC , (...) View the complete list with 17 more genes Panel GTR000553935 complete gene list TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, BBS2, PMM2, GALT, HEXA, G6PC, FAH, DHDDS, SMPD1, DLD, PCDH15, CLRN1, CPT2, BCKDHB, ATP7B Specificity 3 % Genes 8 %
PEX2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX2 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX2 gene). By CGC Genetics in Portugal. PEX2 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX2 Gene. By PreventionGenetics PreventionGenetics in United States. PEX2 Specificity 100 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX2 Specificity 100 % Genes 8 %
Single gene testing PEX2. By CeGaT GmbH in Germany. PEX2 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX2-Related: PEX2 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX2 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX2-Related: PEX2 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX2 Specificity 100 % Genes 8 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel. By Integrated Genetics Westborough Integrated Genetics in United States. TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR , (...) View the complete list with 18 more genes Panel GTR000530283 complete gene list TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, BBS2, PMM2, GALT, HEXA, G6PC, FAH, DHDDS, SMPD1, DLD, PCDH15, CLRN1, CPT2, BCKDHB, BCKDHA, ATP7B, FMR1 Specificity 3 % Genes 8 %
Zellweger spectrum disorder, PEX2-related. By Integrated Genetics Westborough Integrated Genetics in United States. PEX2 Specificity 100 % Genes 8 %
PEX2. By Fulgent Genetics Fulgent Genetics in United States. PEX2 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX2 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 5B. By Bioarray in Spain. PEX2 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX2 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 5A. By Bioarray in Spain. PEX2 Specificity 100 % Genes 8 %
Zellweger Syndrome Type 5A , Sequencing PEX2 Gene. By Reference Laboratory Genetics in Spain. PEX2 Specificity 100 % Genes 8 %
PEX3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PEX3 Specificity 100 % Genes 8 %
Zellweger syndrome (sequence analysis of PEX3 gene). By CGC Genetics in Portugal. PEX3 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene. By PreventionGenetics PreventionGenetics in United States. PEX3 Specificity 100 % Genes 8 %
Zellweger syndrome. By Centogene AG - the Rare Disease Company in Germany. PEX3 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX3-Related: PEX3 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX3 Specificity 100 % Genes 8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX3-Related: PEX3 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PEX3 Specificity 100 % Genes 8 %
PEX3. By Fulgent Genetics Fulgent Genetics in United States. PEX3 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX3 Specificity 100 % Genes 8 %
Zellweger syndrome. By Bioarray in Spain. PEX3 Specificity 100 % Genes 8 %
Peroxisome biogenesis disorder 10A. By Bioarray in Spain. PEX3 Specificity 100 % Genes 8 %
Zellweger Syndrome Type 10A , Sequencing PEX3 Gene. By Reference Laboratory Genetics in Spain. PEX3 Specificity 100 % Genes 8 %

Alternate names

Peroxisome Biogenesis Disorder 1b; Pbd1b Is also known as peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease), peroxisome biogenesis disorder (nald/ird), adrenoleukodystrophy, autosomal neonatal, refsum disease, infantile, infantile phytanic acid storage disease;ird.

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