Spinal Muscular Atrophy, Type Ii; Sma2

Description

Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

Genes related to Spinal Muscular Atrophy, Type Ii; Sma2

NAIP
SMN2
SMN1

Clinical Features

Phenotypes and symptoms related to Spinal Muscular Atrophy, Type Ii; Sma2

Muscle weakness
Skeletal muscle atrophy
Recurrent respiratory infections
Proximal muscle weakness
EMG abnormality
Spinal muscular atrophy
Hand tremor
Tongue fasciculations
Degeneration of anterior horn cells

Incidence and onset information

— Based on the latest data available Spinal Muscular Atrophy, Type Ii; Sma2 have a estimated incidence of 1.23 per 100k worldwide.

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Spinal Muscular Atrophy, Type Ii; Sma2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spinal Muscular Atrophy Carrier Test. By Athena Diagnostics Inc in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
SMA Plus (Reflexive). By Athena Diagnostics Inc in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
SMN DNA Sequencing Test. By Athena Diagnostics Inc in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal Muscular Atrophy Diagnostic Test. By Athena Diagnostics Inc in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal Muscular Atrophy (SMA) MLPA. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal Muscular Atrophy (SMN1 and SMN2). By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
Test for Spinal Muscular Atrophy (SMN2). By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. SMN2 Specificity 100 % Genes 34 %
DNA Analysis for Spinal Muscular Atrophy. By Genetics Laboratory - Department of Pathology Rush University Medical Center in United States. SMN2 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
SPINAL MUSCULAR ATROPHY. By Molecular and Biochemical Genetics Laboratory Dayton Children's Hospital in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal Muscular Atrophy (SMA) Copy Number Analysis. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
SMN1, SMN2. Detection of alterations in SMN1 and SMN2 genes. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal muscular atrophy, type III (sequence analysis of SMN2 gene). By CGC Genetics in Portugal. SMN2 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy via MLPA of SMN1 and SMN2. By PreventionGenetics PreventionGenetics in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal muscular atrophy (SMN2). By Institute of Human Genetics Cologne University in Germany. SMN2 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal Muscular Atrophy (SMN2). By MGZ Medical Genetics Center in Germany. SMN2 Specificity 100 % Genes 34 %
Spinal muscular atrophy. By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal Muscular Atrophy. By GeneTech ATS GeneTech Private Limited in India. SMN2 Specificity 100 % Genes 34 %
Spinal muscular atrophy (SMA), type III. By Centogene AG - the Rare Disease Company in Germany. SMN2 Specificity 100 % Genes 34 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, PC, UQCRQ, ARG1, UQCRB, TYROBP, ATP5F1E, ATP7A, ATP7B, ATPAF2, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, MMACHC, FBLN5, PRKCG, APP, AMN, PAX6, TGFB1, PSEN1, TUBB3, MTR, RET, OPTN, GPR143, INPP5E, MTRR, AMACR, HSD17B4, CPT2, OPA1, KRT5, DTNBP1, WFS1, PSAP, GLB1, CC2D2A, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, ELOVL4, NDP, HPRT1, NHS, TMEM67, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, TTC8, TRIM32, SHH, PRPH2, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, MFN2, CRYAB, PANK2, HADHA, RAF1, OPA3, FH, VCP, SMPD1, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, NDUFB3, NDUFA9, AGK, ALDH18A1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, BLOC1S3, HPS6, HPS5, HPS4, HPS3, TMEM70, NFU1, PCK2, NDUFAF1, CCDC28B, TTC19, MTPAP, NDUFA10, NUBPL, SCP2, KARS, SPTLC2, ABAT, GFER, TLR3, TMEM126A, SLC25A12, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SPR, STXBP1, SUCLA2, COQ8A, RFT1, TUBA1A, GYS1, RARS2, COG1, COG8, DARS2, TUSC3, SLC25A3, PNPLA2, TSFM, HTRA2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TK2, SLC25A22, MPDU1, GFM1, FLVCR1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, SPG7, ALG12, B4GALT1, PARK7, HMGCS2, PINK1, GCSH, GLDC, AMT, CISD2, SCO2, SLC35A1, GAD1, ALG6, TYMP, MPI, ETHE1, ALG3, PUS1, OTC, FRMD7, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, LMBRD1, ABHD5, HEXA, GM2A, ALDH5A1, ALDH3A2, HEXB, LPIN1, PHYH, SLC35C1, ALDH7A1, ACOX1, PGAM2, PTS, QDPR, PAH, AGXT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DBT, SUCLG1, GALC, ALDH4A1, HK1, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, TPP1, CLN3, ALMS1, HESX1, KIF21A, WWOX, SNCB, PNKD, SOD1, NEFH, GSN, TACO1, TMLHE, SLC6A8, MTFMT, SDHA, ABCD4, AGA, AHCY, ARSB, DOLK, DPAGT1, MOGS, HPD, TSHR, FGFR3, AR, ARSA, ASPA, ARX, ELP1, GBA, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, EIF2B1, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SLC2A1, SMN1, SOS1, WDR62, FGFR2, HDAC8, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, ATM, MRE11, NBN, PTCH1, PHOX2B, MET, GPC3, RAD50, CHRNE, CLN6, CLN8, DOK7, FKTN, NEB, PEX2, PROP1, PPT1, PEX7, SGCA, SGCB, SACS, TH, MLC1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CAPN3, CLN5, EIF2B5, PLA2G6, RAPSN, TMEM216, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, ZFYVE26, EIF2B3, SMN2, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS, INF2, LAMB2, BSND, CLCNKB, KCNJ1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, MATR3, SPAST, KIF5A, ATP2A1, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, BAG3, FHL1, SELENON, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, CACNA1S, RYR1, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TPM3, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, SLC6A1, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KRIT1, DNAJC5, MFSD8, ATP13A2, CCM2, PDCD10, KMT2D, RBFOX1, MAGI2, SETD2, TBL1XR1, SLC13A5, NEXMIF, SZT2, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, HTRA1, SHANK3, SHANK2, ACTB, ACTG1, CACNA1D, EDN3, ERCC2, NLRP3, DNMT1, EDNRB, SOX10, PRPS1, CHSY1, GJB3, MYH14, MYH9, PEX6, TFAP2A, DIAPH3, ADNP, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, CLCNKA, MVK, FOXP3, NEU1, CHRNG, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, MSX2, TWIST1, NSUN2, CLCN2, NEDD4L, MTOR, VANGL1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, NAGA, HYAL1, TGFB2, TGFBR1, TGFBR2, SKI, ACTA2, ABCC6, NFIX, RNF135, GLI3, TP63, MAGEL2, KDM6A, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, IFT140, BLOC1S6, SLC4A4, ACVRL1, DOCK8, CSF2RB, NKX2-1, PRKAG2, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, HNRNPDL, SLC5A7, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PIEZO2, CHMP1A, ERCC6, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, ERLIN1, REEP2, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, KIF11, CTDP1, PGK1, FGF10, SLC9A9, LHX4, ACE, CD320, ALX4, EP300, RNASET2, EFTUD2, ASXL1, CCT5, GNPAT, CTC1, NOD2, FTL, CP, COASY, DCAF17, BDNF, MASP1, VEGFA, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, MARS2, COX10, SCO1, COG4, ALG11, COG6, COG5, TMEM165, IL11RA, CSF1R, TREM2, PRNP, SORL1, TPK1, SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A, NHEJ1, XK, LPIN2, FADD, DST, COL7A1, RANBP2, PRKRA, NOTCH2, TCTN3, UNC93B1, TRAF3, TICAM1, NLRP12, OCLN, NTRK2, PIGL, PDE6D, CSPP1, WNT5A, HEPACAM, RIN2, ZNF423, DYNC2H1, GRIP1, ESCO2, DHH, ROR2, WNT7A, ICK, ARSE, MAMLD1, PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, CD96, ALX3, ORC1, RNU4ATAC, AMPD2, SEPSECS, ASXL3, TUBGCP6, TSHB, TG, TBCE, DNAJC6, ANO3, HPCA, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, AAAS, ATP8A2, ATP2B3, CAMTA1, ATCAY, COL18A1, GRID2, NOL3, PIK3R5, ELOVL5, ERCC5, NAT8L, STUB1, ITM2B, LMNB1, MAPK10, RUBCN, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, CWF19L1, SCN10A, AP1S1, DSC3, KCNE5, WNT10A, EIF4G1, IL1RN, ARHGAP31, CERS1, ASCL1, GDNF, RETREG1, NGF, ARHGEF10, HOXD10, FAM126A, COL4A2, GYG1, PEX11B, POGZ, TRPS1, IFRD1, NOP56, UMPS, GLRB, TFAP2B, CST3, GLRA1, IGF1, SLC6A5, DRD3, TRPM6, NOS3, HDAC4, CIZ1, LYZ, PDE8B, HPSE2, PLEKHG4, EXOC8, AIMP1, IRX5, WNT3, TUBA4A, MSX1, TMCO1, GIGYF2, SNCAIP, ERCC1, ZBTB16, FTO, CHRM3, EXOSC8, TRPM7, FBXO38, YWHAE, CACNA1B, ALAD, KANK1, UPB1, NECTIN1, PRRX1, NOG, ATP2B4, ZFR, WDR48, USP8, ARSI, STRADA, RBFOX3, NDUFA4, ERBB4, WAC, HERC2, KCNK9, ADK, FLRT1, NXF5, ELK1, NRG1, VDAC1, DNAH9, FZD9, CD59, JRK, ACKR1, CD207, CR1, CNTNAP4, CDK11A, RABGGTA, TNFSF4, FRG1, TAS2R38, CISH, SNX3, ICAM1, YAP1, ADAM10, ZBTB18, EIF4E, SNIP1, AANAT, KCNK18, XBP1, NOS2, TIRAP, TLR5, PRKCH, ALOX5AP, TNF, FCGR2B Specificity 1 % Genes 67 %
Spinal Muscular Atrophy. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. SMN1, SMN2 Specificity 100 % Genes 67 %
Invitae Comprehensive Neuromuscular Disorders Panel. By Invitae in United States. GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...) View the complete list with 84 more genes Panel GTR000551683 complete gene list GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, SMN2, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, KCNJ2, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, LAMP2, FKBP14, MYPN, MYL2, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, STIM1, VMA21 Specificity 2 % Genes 67 %
Invitae Hereditary Motor Neuropathy Panel. By Invitae in United States. ATP7A, GARS, REEP1, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, PLEKHG5, DNAJB2, HINT1, SLC5A7 , (...) View the complete list with 2 more genes Panel GTR000551813 complete gene list ATP7A, GARS, REEP1, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, PLEKHG5, DNAJB2, HINT1, SLC5A7, CHCHD10, FBXO38 Specificity 10 % Genes 67 %
Invitae Spinal Muscular Atrophy Panel. By Invitae in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
SMA Diagnostic Test. By Quest Diagnostics Nichols Institute Chantilly in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
SMA Carrier Screen. By Quest Diagnostics Nichols Institute Chantilly in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
SMA Carrier Screen. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
SMA Diagnostic Test. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. SMN1, SMN2 Specificity 100 % Genes 67 %
Spinal Muscular Atrophy Panel. By Blueprint Genetics in Finland. ATP7A, GARS, REEP1, SCO2, HEXA, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1 , (...) View the complete list with 10 more genes Panel GTR000552779 complete gene list ATP7A, GARS, REEP1, SCO2, HEXA, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3, PLEKHG5, DNAJB2, AARS, SLC5A7, TBCE, CHCHD10, EXOSC8, FBXO38 Specificity 7 % Genes 67 %
Spinal muscular atrophy. By Genomic Engenharia Molecular in Brazil. SMN1, SMN2 Specificity 100 % Genes 67 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes. By Reference Laboratory Genetics in Spain. ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...) View the complete list with 29 more genes Panel GTR000559824 complete gene list ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, GJB1, SMN2, UBA1, INF2, DES, BSCL2, ALS2, SIGMAR1, SETX, DYNC1H1, IGHMBP2, ASAH1, PRPS1, PLEKHG5, DNAJB2, LRSAM1, AARS, MED25, SLC52A3, SLC52A1 Specificity 5 % Genes 67 %
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes. By Reference Laboratory Genetics in Spain. ATP7A, GARS, REEP1, SCO2, SMN1, TRPV4, HSPB8, SMN2, UBA1, BSCL2, DCTN1, VAPB, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7 Specificity 11 % Genes 67 %
SMN1 Deletion Analysis. By Baylor Miraca Genetics Laboratories in United States. SMN1 Specificity 100 % Genes 34 %
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...) View the complete list with 139 more genes Panel GTR000553929 complete gene list FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, OCRL, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, MECP2, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, OTC, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, IL2RG, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, BTK, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216 Specificity 1 % Genes 34 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...) View the complete list with 129 more genes Panel GTR000553930 complete gene list UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, HBA2, NEB, CTNS, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216 Specificity 1 % Genes 34 %
GeneAware Basic Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. FMR1, HBB, CFTR, DMD, SMN1, HBA1, HBA2 Specificity 15 % Genes 34 %
GeneAware Basic Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. HBB, CFTR, SMN1, HBA1, HBA2 Specificity 20 % Genes 34 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA , (...) View the complete list with 19 more genes Panel GTR000553933 complete gene list FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, SMN1, ADAMTS2, COL4A3, FKTN, MTTP, NEB, PEX2, SLC35A3, MCOLN1, MPL, RTEL1, SUMF1, ABCC8, PHGDH, PKHD1, TMEM216 Specificity 3 % Genes 34 %
GeneAware ACMG/ACOG Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1 Specificity 8 % Genes 34 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM , (...) View the complete list with 17 more genes Panel GTR000553935 complete gene list ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, SMN1, ADAMTS2, COL4A3, FKTN, MTTP, NEB, PEX2, SLC35A3, MCOLN1, MPL, RTEL1, SUMF1, ABCC8, PHGDH, PKHD1, TMEM216 Specificity 3 % Genes 34 %
GeneAware ACMG/ACOG Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DMD, SMN1, HBA1, HBA2, MCOLN1 Specificity 7 % Genes 34 %
Spinal Muscular Atrophy (SMA). By Center for Human Genetics, Inc in United States. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy (SMN1). By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Molecular Pathology Laboratory Ohio State University in United States. SMN1 Specificity 100 % Genes 34 %
Test for Spinal Muscular Atrophy (SMN1). By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy - I, II, and III. By Center for Genetics at Saint Francis Saint Francis Hospital in United States. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy (SMN1) Test. By Genetics Laboratory - Department of Pathology Rush University Medical Center in United States. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By United States Air Force Molecular Diagnostic Laboratory United States Air Force in United States. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy (SMN1). By Molecular Genetics Rabin Medical Center in Israel. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy (SMN1). By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. SMN1 Specificity 100 % Genes 34 %
Spinal and Bulabr Muscular Atrophy. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy. By Human Genetics University Hospital Bern in Switzerland. SMN1 Specificity 100 % Genes 34 %
Survival motor neuron 1 (SMN1) and 2 (SMN2) gene dosage evaluation by MLPA analysis. By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy (SMA, sequence analysis of 7 and 8 exons of SMN1 gene). By CGC Genetics in Portugal. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy (SMA, deletion/duplication analysis of SMN1 gene). By CGC Genetics in Portugal. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy ( SMA ). By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy (SMN1). By Institute of Human Genetics Cologne University in Germany. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy (SMN1). By MGZ Medical Genetics Center in Germany. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy (SMN1). By Bioscientia GmbH Center for Human Genetics in Germany. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By GeneTech ATS GeneTech Private Limited in India. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy (SMA). By Centogene AG - the Rare Disease Company in Germany. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy Type 1-3. By bio.logis Center for Human Genetics Diagnosticum in Germany. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India. SMN1 Specificity 100 % Genes 34 %
Test for Spinal Muscular Atrophy (SMN1). By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom. SMN1 Specificity 100 % Genes 34 %
Test for Spinal Muscular Atrophy (SMN1). By Genetiks Genetic Diagnosis and Research Center Genetic Diagnosis and Research Center in Turkey. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SMN1 Specificity 100 % Genes 34 %
Ashkenazi Jewish diseases. By Asper Biogene Asper Biogene LLC in Estonia. BRCA1, BRCA2, MSH2, MSH6, AGL, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAM161A, G6PC, LCA5, HEXA, BBS2, MAK, ASPA, ELP1, CFTR , (...) View the complete list with 17 more genes Panel GTR000507864 complete gene list BRCA1, BRCA2, MSH2, MSH6, AGL, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAM161A, G6PC, LCA5, HEXA, BBS2, MAK, ASPA, ELP1, CFTR, FANCC, GBA, BLM, GJB2, LDLR, SMN1, FKTN, NEB, SERPINA1, MCOLN1, ABCC8, TMEM216, TOR1A, LRRK2, CYP21A2, MEFV, F11 Specificity 3 % Genes 34 %
SMA, SMN1 and SMN2 del/dup. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. SMN1 Specificity 100 % Genes 34 %
SMA, SMN1 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. SMN1 Specificity 100 % Genes 34 %
Proximal spinal muscular atrophy (SMN1). By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy 1-3. By Praxis fuer Humangenetik Wien in Austria. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy (MLPA`s). By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia. SMN1 Specificity 100 % Genes 34 %
Family Prep Screen. By Counsyl in United States. F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...) View the complete list with 90 more genes Panel GTR000552033 complete gene list F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4, CPT2, GNE, CNGB3, CLRN1, PCDH15, DLD, HADHA, OPA3, SMPD1, SLC26A4, RS1, FAH, G6PC, MPI, HEXA, ALDH3A2, CTSK, PAH, AGXT, CPT1A, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, TPP1, CLN3, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, IDUA, NPC1, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, TTPA, ABCC8, CLN5, LAMC2, PKHD1, DPYD, TMEM216, CYP21A2, VPS13B, MEFV, F11, HGD, BCHE Specificity 1 % Genes 34 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3 Specificity 1 % Genes 34 %
Spinal muscular atrophy 1-3. By MedGene in Slovakia. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy: SMN1 gene common deletion analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy: SMN1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SMN1 Specificity 100 % Genes 34 %
Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DMPK, SMN1, SNRPN, MEG3 Specificity 25 % Genes 34 %
Spinal Muscular Atrophy. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMN1 Specificity 100 % Genes 34 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...) View the complete list with 127 more genes Panel GTR000523283 complete gene list FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, MECP2, SLC26A4, RS1, FAH, G6PC, MPI, OTC, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, GLA, IDS, IDUA, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, G6PD, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, VWF, F9, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1 Specificity 1 % Genes 34 %
Spinal Muscular Atrophy: Carrier Screen. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMN1 Specificity 100 % Genes 34 %
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FMR1, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, FKTN, NEB, MCOLN1, ABCC8, TMEM216 Specificity 5 % Genes 34 %
ACOG/ACMG Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1 Specificity 10 % Genes 34 %
ACOG/ACMG Carrier Screen: Targeted Mutation Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1 Specificity 10 % Genes 34 %
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FMR1, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, FKTN, NEB, MCOLN1, ABCC8, TMEM216 Specificity 5 % Genes 34 %
Inheritest NGS, Society Guided Panel. By Integrated Genetics Westborough Integrated Genetics in United States. FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1 Specificity 9 % Genes 34 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel. By Integrated Genetics Westborough Integrated Genetics in United States. FMR1, ATP7B, BCKDHA, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC , (...) View the complete list with 18 more genes Panel GTR000530283 complete gene list FMR1, ATP7B, BCKDHA, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, SMN1, ADAMTS2, COL4A3, FKTN, MTTP, NEB, PEX2, SLC35A3, MCOLN1, MPL, SUMF1, ABCC8, PHGDH, PKHD1, TMEM216 Specificity 3 % Genes 34 %
Spinal Muscular Atrophy (SMN1) Carrier Screen. By Integrated Genetics Westborough Integrated Genetics in United States. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy (SMA). By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory in United States. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy. By Insight Medical Genetics in United States. SMN1 Specificity 100 % Genes 34 %
Proximal spinal muscular atrophy type 1. By Bioarray in Spain. SMN1 Specificity 100 % Genes 34 %
CarrierMap. By Recombine in United States. FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYRP1, STAR, SLC45A2, CHM, TYR, SLC37A4, ABCA12, HSD17B4, CPT2, TRMU, GNPTAB, GLB1, GNE, OCRL, ABCA4, CYP1B1, CEP290, CLRN1, TRIM32, USH2A, PCDH15, DLD, POLG, CYP11B1, SLC25A13, HADHA, OPA3, FH, RPE65, RLBP1, GUCY2D, SMPD1, CYP11B2, SLC26A4, CDH23, HPS1, PDHB, HPS4, HPS3, DHDDS, RS1, FAH, HMGCL, HSD3B2, FAM161A, TAT, G6PC, GAMT, RDH12, RARS2, HAX1, HADHB, CERKL, PCCB, PCCA, GLDC, AMT, LCA5, ALG6, TYMP, MPI, ETHE1, MYO7A, PUS1, OTC, PDHA1, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, ACOX1, PTS, PAH, AGXT, TCIRG1, MPV17, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFS6, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, GALC, IVD, SLC25A15, CBS, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, BBS12, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CYP17A1, NR2E3, ADA, AGA, ARSB, IL2RG, AIRE, AR, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LIPA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, BRIP1, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PKHD1, RAPSN, TGM1, TMEM216, GJB1, NTRK1, FKRP, DYSF, LHCGR, KCNJ11, CYP21A2, COL4A4, SLC12A3, BSND, COL4A5, MTM1, VRK1, EMD, SGCD, TSEN54, MFSD8, VPS13B, VPS13A, ATP6V1B1, MYO15A, SLC4A11, PRPS1, PEX6, LOXHD1, PEX10, CHRNG, RAB23, POR, EXOSC3, CTSC, LYST, DNAI2, DNAI1, ERCC6, TECPR2, MEFV, SRD5A2, F9, F8, FANCA, FANCG, EVC, EVC2, LPL, EIF2AK3, VSX2, RAG2, ERCC8, SLC39A4, COL7A1, CIITA, EDA, TTC37, TFR2, HOGA1, HJV, CYP19A1, AMH, AMHR2, ASNS, MED17, SEPSECS, WRN, XPA, LIFR, SLC7A9, XPC, GDF5, HGD, BCHE, SLC26A3, VPS53 Specificity 1 % Genes 34 %
Mutation analysis for Spinal muscular atrophy. By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India. SMN1 Specificity 100 % Genes 34 %
ATROPHY, SPINAL MUSCULAR (WERDNIG-HOFFMANN DISEASE). By Laboratorio de Genetica Clinica SL in Spain. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy Type 3 , Sequencing SMN1 Gene. By Reference Laboratory Genetics in Spain. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy Type 1 , Sequencing SMN1 Gene. By Reference Laboratory Genetics in Spain. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy Type 4 , Sequencing SMN1 Gene. By Reference Laboratory Genetics in Spain. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy Type 2 , Sequencing SMN1 Gene. By Reference Laboratory Genetics in Spain. SMN1 Specificity 100 % Genes 34 %
Spinal Muscular Atrophy , Deletions-Duplications (MLPA) SMN1 Gene. By Reference Laboratory Genetics in Spain. SMN1 Specificity 100 % Genes 34 %
Spinal muscular atrophy, autosomal-recessive. By Labor Dr. Wisplinghoff in Germany. SMN1 Specificity 100 % Genes 34 %
planTrue Extended. By True Health Diagnostics in United States. FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...) View the complete list with 61 more genes Panel GTR000561192 complete gene list FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1, SLC26A4, CDH23, RS1, FAH, G6PC, MYO7A, ABCD1, HEXA, ALDH3A2, HEXB, CYP27B1, PAH, CBS, GCDH, GALT, LRPPRC, SLC22A5, PMM2, MKS1, BBS1, TPP1, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, NPC1, RMRP, SMN1, ATM, HBA1, FKTN, HBA2, NEB, CTNS, PROP1, PPT1, SLC26A2, MCOLN1, POMGNT1, SLC17A5, TTPA, WAS, ABCC8, CLN5, PKHD1, DPYD, TMEM216, KCNJ11, CYP21A2, TNNT1, MEFV, F11, HGD Specificity 2 % Genes 34 %
planTrue ACOG & ACMG Screen. By True Health Diagnostics in United States. HBB, SMPD1, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1 Specificity 8 % Genes 34 %
planTrue Standard. By True Health Diagnostics in United States. BCKDHB, HBB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, FKTN, HBA2, NEB , (...) View the complete list with 3 more genes Panel GTR000561245 complete gene list BCKDHB, HBB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, FKTN, HBA2, NEB, MCOLN1, ABCC8, TMEM216 Specificity 5 % Genes 34 %
planTrue Basic. By True Health Diagnostics in United States. CFTR, DMD, SMN1 Specificity 34 % Genes 34 %
planTrue Jewish Screen. By True Health Diagnostics in United States. BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, NEB, MCOLN1, ABCC8, TMEM216 Specificity 6 % Genes 34 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...) View the complete list with 116 more genes Panel GTR000560383 complete gene list HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, SLC26A4, FAH, G6PC, MPI, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, CLN8, LAMB3, FKTN, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1 Specificity 1 % Genes 34 %

Alternate names

Spinal Muscular Atrophy, Type Ii; Sma2 Is also known as sma ii, muscular atrophy, spinal, intermediate type, muscular atrophy, spinal, infantile chronic form;chronic infantile spinal muscular atrophy; chronic spinal muscular atrophy; intermediate spinal muscular atrophy; sma type 2; sma type ii; sma-ii; sma2.

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