Hereditary Motor And Sensory Neuropathy, Type Iic; Hmsn2c

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

Genes related to Hereditary Motor And Sensory Neuropathy, Type Iic; Hmsn2c

TRPV4

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Motor And Sensory Neuropathy, Type Iic; Hmsn2c

Short stature
Hearing impairment
Scoliosis
Ataxia
Strabismus
Sensorineural hearing impairment
Motor delay
Muscle weakness
Milia
Flexion contracture

And another 55 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Hereditary Motor And Sensory Neuropathy, Type Iic; Hmsn2c Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant. By Athena Diagnostics Inc in United States. GARS, MFN2, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2 Specificity 8 % Genes 100 %
CMT Advanced Evaluation - Dominant, Axonal. By Athena Diagnostics Inc in United States. GARS, MFN2, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA Specificity 10 % Genes 100 %
CMT Advanced Evaluation - Comprehensive. By Athena Diagnostics Inc in United States. GARS, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS , (...) View the complete list with 3 more genes Panel GTR000512806 complete gene list GARS, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1 Specificity 5 % Genes 100 %
CMT Advanced Evaluation - Axonal. By Athena Diagnostics Inc in United States. GARS, MFN2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, GJB1 Specificity 8 % Genes 100 %
TRPV4 DNA Sequencing Test. By Athena Diagnostics Inc in United States. TRPV4 Specificity 100 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent. By Athena Diagnostics Inc in United States. GARS, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA , (...) View the complete list with 1 more genes Panel GTR000552488 complete gene list GARS, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1 Specificity 5 % Genes 100 %
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc in United States. GARS, TRPV4, HSPB8, HSPB1, UBA1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2 Specificity 10 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent Axonal. By Athena Diagnostics Inc in United States. GARS, GDAP1, TRPV4, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, GJB1 Specificity 10 % Genes 100 %
NGS Skeletal Dysplasia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, TRPV4, HSPG2, FLNA, COMP, SOX9 Specificity 10 % Genes 100 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...) View the complete list with 34 more genes Panel GTR000558962 complete gene list GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, SPG11, INF2, BSCL2, DYNC1H1, IGHMBP2, PRPS1, MME, MORC2, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN Specificity 2 % Genes 100 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...) View the complete list with 124 more genes Panel GTR000556370 complete gene list ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1, TYMP, PHKA1, CHAT, SUCLG1, PYGM, PMM2, MGME1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, FIG4, TRPV4, HSPB8, HSPB1, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, SETX, DCTN1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, DNMT1, CHRNG, LAMP2, LAS1L, PLEKHG5, HINT1, GAN, FBXL4, AMPD1, COL12A1, GLE1, KLHL41, LIMS2, MYF6, TNPO3, TNNI2, MTMR14, HNRNPDL, SLC5A7, TOR1AIP1, POMK, STAC3, SPEG, LMOD3, GMPPB Specificity 1 % Genes 100 %
Charcot-Marie-Tooth Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. GARS, KIF1B, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1 , (...) View the complete list with 14 more genes Panel GTR000552154 complete gene list GARS, KIF1B, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, SPTLC1, BSCL2, DCTN1, DYNC1H1, IGHMBP2, PRPS1, DNAJB2, LRSAM1, AARS, MED25 Specificity 3 % Genes 100 %
Charcot Marie Tooth Panel. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. TTR, GARS, KIF1B, MFN2, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...) View the complete list with 14 more genes Panel GTR000529452 complete gene list TTR, GARS, KIF1B, MFN2, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, LMNA, GJB1, SPTLC1, DYNC1H1, IGHMBP2, PRPS1, MARS, PDK3, DNAJB2, LRSAM1, AARS, MED25 Specificity 3 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...) View the complete list with 19 more genes Panel GTR000522271 complete gene list ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35, EBP, POR, COMP, SOX9, WDR19, GNPAT, SERPINH1, TTC21B, IFT80, EVC, EVC2, DYNC2H1, NEK1, ARSE, DLL3, FLNB, LIFR, SLC35D1, TRIP11 Specificity 3 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal. By ARUP Laboratories, Molecular Genetics and Genomics in United States. ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...) View the complete list with 19 more genes Panel GTR000522272 complete gene list ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35, EBP, POR, COMP, SOX9, WDR19, GNPAT, SERPINH1, TTC21B, IFT80, EVC, EVC2, DYNC2H1, NEK1, ARSE, DLL3, FLNB, LIFR, SLC35D1, TRIP11 Specificity 3 % Genes 100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel. By ARUP Laboratories, Molecular Genetics and Genomics in United States. ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...) View the complete list with 58 more genes Panel GTR000525862 complete gene list ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, 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, INF2, KIF5A, BSCL2, BAG3, KIF1A, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, TDP1, SCN9A, DNMT1, SOX10, PRPS1, MYH14, LAS1L, MARS, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, CCT5, PRNP, RETREG1, NGF, ARHGEF10, HOXD10 Specificity 2 % Genes 100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...) View the complete list with 58 more genes Panel GTR000525863 complete gene list ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, 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, INF2, KIF5A, BSCL2, BAG3, KIF1A, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, TDP1, SCN9A, DNMT1, SOX10, PRPS1, MYH14, LAS1L, MARS, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, CCT5, PRNP, RETREG1, NGF, ARHGEF10, HOXD10 Specificity 2 % Genes 100 %
Scapuloperoneal Spinal Muscular Atrophy. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 100 %
Charcot-Marie-Tooth Neuropathy Type 2C. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 100 %
Distal Congenital Nonprogressive Spinal Muscular Atrophy. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 100 %
Brachyolmia type 3. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 100 %
Metatropic Dysplasia. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal Dysplasia, Kozlowski Type. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 100 %
Brachyolmia type 2. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 100 %
TRPV4. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TRPV4 Specificity 100 % Genes 100 %
TRPV4. Sequencing of the exons 5 and 6. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TRPV4 Specificity 100 % Genes 100 %
TRPV4. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TRPV4 Specificity 100 % Genes 100 %
Distal Congenital Nonprogressive Spinal Muscular Atrophy. By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 100 %
Scapuloperoneal Spinal Muscular Atrophy. By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 100 %
Charcot-Marie-Tooth disease type 2C (sequence analysis of TRPV4 gene). By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 100 %
Metatropic dysplasia (p.R594H and p.P799L mutations on TRPV4 gene). By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal dysplasia (sequence analysis of TRPV4 gene). By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes). By CGC Genetics in Portugal. TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...) View the complete list with 54 more genes Panel GTR000523729 complete gene list TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, 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, INF2, KIF5A, BSCL2, KIF1A, DYNC1H1, IGHMBP2, SCN9A, DNMT1, SOX10, PRPS1, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, HINT1, TFG, LRSAM1, AARS, MED25, GAN, CTDP1, DST, RETREG1, NGF, ARHGEF10, HOXD10, SCN11A, ATL3, DCAF8 Specificity 2 % Genes 100 %
Skeletal dysplasia (NGS panel for 31 genes). By CGC Genetics in Portugal. ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL , (...) View the complete list with 11 more genes Panel GTR000523894 complete gene list ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, DDR2, MMP13, INPPL1, MMP9 Specificity 4 % Genes 100 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes). By CGC Genetics in Portugal. C12orf65, GARS, KIF1B, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...) View the complete list with 23 more genes Panel GTR000525188 complete gene list C12orf65, GARS, KIF1B, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, INF2, DYNC1H1, IGHMBP2, PRPS1, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, LRSAM1, AARS, MED25, HOXD10 Specificity 3 % Genes 100 %
Spinal muscular atrophy (NGS panel for 21 genes). By CGC Genetics in Portugal. ATP7A, GARS, REEP1, SCO2, TRPV4, HSPB8, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7, CHCHD10, EXOSC8 , (...) View the complete list with 1 more genes Panel GTR000525731 complete gene list ATP7A, GARS, REEP1, SCO2, TRPV4, HSPB8, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7, CHCHD10, EXOSC8, FBXO38 Specificity 5 % Genes 100 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. FBLN5, GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF , (...) View the complete list with 25 more genes Panel GTR000530220 complete gene list FBLN5, GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, INF2, KIF5A, DYNC1H1, IGHMBP2, PRPS1, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, HINT1, LRSAM1, AARS, MED25, CTDP1 Specificity 3 % Genes 100 %
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, DNM2 , (...) View the complete list with 18 more genes Panel GTR000530222 complete gene list GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, DNM2, LMNA, INF2, KIF5A, DYNC1H1, IGHMBP2, PRPS1, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, HINT1, LRSAM1, AARS, MED25 Specificity 3 % Genes 100 %
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ATP7A, GARS, REEP1, TRPV4, HSPB8, HSPB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, LAS1L, DNAJB2, HINT1, AARS, GAN, SLC5A7 , (...) View the complete list with 2 more genes Panel GTR000509894 complete gene list ATP7A, GARS, REEP1, TRPV4, HSPB8, HSPB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, LAS1L, DNAJB2, HINT1, AARS, GAN, SLC5A7, SYT2, FBXO38 Specificity 5 % Genes 100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...) View the complete list with 238 more genes Panel GTR000558369 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH, SERPINF1, SP7, SLC39A13, COG1, P3H1, CRTAP, PLOD2, SQSTM1, AGPS, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, COL5A1, COL5A2, FGFR3, COL10A1, CREBBP, PLOD1, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, GPC3, SBDS, PRKAR1A, ADAMTS2, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PROK2, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, ANKRD11, FGD1, LBR, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, WDR35, CANT1, PTH1R, EBP, NSDHL, RAB23, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFBR1, TGFBR2, SKI, FBN2, FKBP14, TNXB, CHST14, ZNF469, ACVR1, NFIX, GLI3, TP63, GDF6, IFT140, CDH3, BMPR1B, WDR19, PIEZO2, PITX1, ZMPSTE24, RIPK4, FGF10, LHX4, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, ASXL1, SH3BP2, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, GORAB, TTC21B, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, HOXA11, FREM1, ALX1, GDF3, EXT2, EXT1, MGP, SMARCAL1, TCTN3, AFF4, SRCAP, CEP120, WNT5A, RIN2, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, WNT7A, CCNQ, IRF6, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, MEGF8, ERF, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, OBSL1, CCDC8, FAM111A, ENPP1, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, HES7, LFNG, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, HPGD, PTHLH, GDF5, TRAPPC2, MATN3, MEOX1, HDAC4, TBX3, DDR2, EOGT, MMP13, SNX10, INPPL1, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, WNT3, SMOC1, BHLHA9, IHH, XYLT1, TBX6, GHSR, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, ACAN, ADAMTS17, KIF22, RASGRP2, TBX4, TXNL4A, NPPC, SULF1, COL27A1, DDX59, TGDS Specificity 1 % Genes 100 %
TRPV4-related Disorders via the TRPV4 Gene. By PreventionGenetics PreventionGenetics in United States. TRPV4 Specificity 100 % Genes 100 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1 , (...) View the complete list with 51 more genes Panel GTR000552096 complete gene list TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, 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, INF2, KIF5A, BSCL2, KIF1A, SETX, DCTN1, MEGF10, BICD2, DYNC1H1, HSPB3, IGHMBP2, SCN9A, DNMT1, PRPS1, LAS1L, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, CCT5, RETREG1, NGF Specificity 2 % Genes 100 %
Charcot-Marie-Tooth disease Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...) View the complete list with 23 more genes Panel GTR000559047 complete gene list C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, BSCL2, DYNC1H1, PRPS1, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, TFG, LRSAM1, AARS, MED25, ATP1A1 Specificity 3 % Genes 100 %
Charcot-Marie-Tooth disease NGS panel. By Connective Tissue Gene Tests in United States. C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...) View the complete list with 23 more genes Panel GTR000559053 complete gene list C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, BSCL2, DYNC1H1, PRPS1, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, TFG, LRSAM1, AARS, MED25, ATP1A1 Specificity 3 % Genes 100 %
Charcot-Marie-Tooth disease Comprehensive panel. By Connective Tissue Gene Tests in United States. C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...) View the complete list with 23 more genes Panel GTR000559062 complete gene list C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, BSCL2, DYNC1H1, PRPS1, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, TFG, LRSAM1, AARS, MED25, ATP1A1 Specificity 3 % Genes 100 %
Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...) View the complete list with 4 more genes Panel GTR000559082 complete gene list ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1, GAN, SLC5A7, DCAF8, FBXO38 Specificity 5 % Genes 100 %
Distal hereditary motor neuropathy and related disorders NGS panel. By Connective Tissue Gene Tests in United States. ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...) View the complete list with 4 more genes Panel GTR000559132 complete gene list ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1, GAN, SLC5A7, DCAF8, FBXO38 Specificity 5 % Genes 100 %
Distal hereditary motor neuropathy and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...) View the complete list with 4 more genes Panel GTR000559149 complete gene list ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1, GAN, SLC5A7, DCAF8, FBXO38 Specificity 5 % Genes 100 %
Skeletal dysplasia extended NGS panel. By Connective Tissue Gene Tests in United States. COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9 Specificity 6 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...) View the complete list with 34 more genes Panel GTR000559319 complete gene list COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1 Specificity 2 % Genes 100 %
Skeletal dysplasia core & extended Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...) View the complete list with 9 more genes Panel GTR000559336 complete gene list ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, DDR2, MMP13, INPPL1, MMP9 Specificity 4 % Genes 100 %
Skeletal dysplasia extended Comprehensive panel. By Connective Tissue Gene Tests in United States. COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9 Specificity 6 % Genes 100 %
Skeletal dysplasia core & extended Comprehensive panel. By Connective Tissue Gene Tests in United States. ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...) View the complete list with 9 more genes Panel GTR000559351 complete gene list ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, DDR2, MMP13, INPPL1, MMP9 Specificity 4 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel. By Connective Tissue Gene Tests in United States. COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...) View the complete list with 34 more genes Panel GTR000559381 complete gene list COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1 Specificity 2 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel. By Connective Tissue Gene Tests in United States. COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...) View the complete list with 34 more genes Panel GTR000559385 complete gene list COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1 Specificity 2 % Genes 100 %
Skeletal dysplasia core & extended NGS panel. By Connective Tissue Gene Tests in United States. ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...) View the complete list with 9 more genes Panel GTR000559386 complete gene list ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, DDR2, MMP13, INPPL1, MMP9 Specificity 4 % Genes 100 %
Skeletal dysplasia extended Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9 Specificity 6 % Genes 100 %
Spondyloepiphyseal dysplasia, Maroteaux type Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal dysplasia, Kozlowski type Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Hereditary motor and sensory neuropathy, type IIC Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Spinal muscular atrophy, distal, congenital nonprogressive Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Metatropic dysplasia Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Metatropic dysplasia Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Hereditary motor and sensory neuropathy, type IIC Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal dysplasia, Kozlowski type Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Parastremmatic dwarfism Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Parastremmatic dwarfism Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Spinal muscular atrophy, distal, congenital nonprogressive Sequencng test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Spondyloepiphyseal dysplasia, Maroteaux type Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Hereditary motor and sensory neuropathy, type IIC Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal dysplasia, Kozlowski type Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Metatropic dysplasia Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Spondyloepiphyseal dysplasia, Maroteaux type Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Parastremmatic dwarfism Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Spinal muscular atrophy, distal, congenital nonprogressive Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 100 %
Spinal muscular atrophy, distal, congenital nonprogressive. By Institute of Human Genetics Cologne University in Germany. TRPV4 Specificity 100 % Genes 100 %
Neuropathy. By MGZ Medical Genetics Center in Germany. TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...) View the complete list with 102 more genes Panel GTR000521130 complete gene list TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1, PDHA1, AIFM1, HEXA, SURF1, NDUFAF5, HK1, GBE1, FXN, CYP27A1, SEPT9, SOD1, ELP1, PLP1, SACS, SLC12A6, 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, SPG11, INF2, MATR3, SPAST, KIF5A, NIPA1, BSCL2, KIF1A, ALS2, FUS, SETX, DCTN1, TARDBP, ANG, VAPB, UBQLN2, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, TDP1, SCN9A, DNMT1, PRPS1, MYH14, PEX12, LAS1L, SMAD3, MARS, PLEKHG5, PDK3, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, TNNT2, SLC5A7, CTDP1, COX10, ABCA1, AAAS, SLC52A2, SLC52A3, CHCHD10, SCN10A, RETREG1, NGF, ARHGEF10, FAM126A, IFRD1, SCN11A, ATL3, DCAF8, CLP1, LARS, SH3BP4, MICAL1, KLHL13 Specificity 1 % Genes 100 %
Charcot-Marie-Tooth Neuropathy Type 2C. By MGZ Medical Genetics Center in Germany. TRPV4 Specificity 100 % Genes 100 %
Newborn: “Floppy Infant “. By MGZ Medical Genetics Center in Germany. GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...) View the complete list with 53 more genes Panel GTR000521064 complete gene list GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, FKRP, UBA1, SCN4A, TTN, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, IGHMBP2, SYNE1, PLEC, POMT2, POMT1, TCAP, ISPD, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, CUL4B, LAMP2, LAS1L, FKBP14, POMK, GMPPB, ALG14, SLC52A3 Specificity 2 % Genes 100 %
Spinal Muscular Atrophy, Proximal Motor Neuropathy. By MGZ Medical Genetics Center in Germany. MFN2, HEXA, TRPV4, LMNA, SETX, VAPB, BICD2, DYNC1H1, IGHMBP2, LAS1L, TFG, SLC52A2, SLC52A3, CLP1 Specificity 8 % Genes 100 %
Muscle Weakness (Myopathy, Muscular Dystrophy). By MGZ Medical Genetics Center in Germany. TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...) View the complete list with 159 more genes Panel GTR000521098 complete gene list TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA, VCP, MTO1, AGK, TMEM70, CAVIN1, PGM1, SLC25A3, PNPLA2, POLG2, TK2, GFM1, HADHB, ALG2, SCO2, PUS1, TAZ, ABHD5, LPIN1, COX15, ISCU, CPT1A, CHAT, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, SEPT9, KIF21A, SDHA, DPAGT1, DMD, PHOX2B, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, CLCN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, HSPG2, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, GOSR2, HNRNPU, SNAP25, CUL4B, MYH14, LAMP2, LAS1L, FKBP14, TNXB, HINT1, AARS, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, TOR1AIP1, POMK, STAC3, GMPPB, PIEZO2, MYBPC1, FDX2, PGK1, HADH, STIM1, ORAI1, MICU1, PREPL, LRP4, ALG14, SLC52A3, GLRB, GLRA1, SLC6A5 Specificity 1 % Genes 100 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR). By MGZ Medical Genetics Center in Germany. ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...) View the complete list with 70 more genes Panel GTR000521121 complete gene list ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, ACTA1, MYH2, MTM1, BICD2, DYNC1H1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, COLQ, GFPT1, CHRNA1, CHRND, CHRNB1, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, HNRNPU, LAMP2, HINT1, LIMS2, TNPO3, TOR1AIP1, GMPPB, HADH, STIM1 Specificity 2 % Genes 100 %
Charcot Marie Tooth Type 2 Panel. By FirmaLab in United States. GARS, KIF1B, MFN2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, AARS, MED25 Specificity 7 % Genes 100 %
CMT2C. By Centogene AG - the Rare Disease Company in Germany. TRPV4 Specificity 100 % Genes 100 %
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 100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel. By CeGaT GmbH in Germany. MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...) View the complete list with 123 more genes Panel GTR000522437 complete gene list MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR, DARS2, REEP1, SPG7, GAD1, ABCB7, ABCD1, HEXA, NDUFV1, GALC, SLC25A15, GBE1, CYP27A1, SOD1, NEFH, FARS2, GBA, GJC2, PLP1, SACS, TH, PLA2G6, FIG4, TRPV4, HSPB8, HSPB1, DNM2, ATL1, ZFYVE26, SPG11, C9orf72, GCH1, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, BICD2, HSPB3, VRK1, IGHMBP2, VAMP1, PDYN, ASAH1, PQBP1, RAB3GAP1, GFAP, SOX10, SLC16A2, CLCN2, MARS, PLEKHG5, TFG, GAN, LYST, ERLIN1, REEP2, HACE1, MAG, CPT1C, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, CCT5, COASY, VEGFA, IBA57, ARL6IP1, CCDC88C, AMPD2, SLC1A4, GRID2, STUB1, FAM126A, AIMP1, HNRNPA2B1, HNRNPA1, KANK1, ARHGEF28, ATP2B4, ARSI, FLRT1, KLC4, VPS54, ADD3, PRPH Specificity 1 % Genes 100 %
Spinal Muscular Atrophy Panel. By CeGaT GmbH in Germany. ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...) View the complete list with 7 more genes Panel GTR000522467 complete gene list ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3, PLEKHG5, DNAJB2, AARS, SLC5A7, CHCHD10, EXOSC8, FBXO38 Specificity 4 % Genes 100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel. By CeGaT GmbH in Germany. TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...) View the complete list with 64 more genes Panel GTR000522516 complete gene list TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1, SEPT9, ELP1, SLC12A6, 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, INF2, KIF5A, BSCL2, KIF1A, DYNC1H1, IGHMBP2, SCN9A, DNMT1, SOX10, PRPS1, MYH14, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, HINT1, TFG, LRSAM1, AARS, MED25, GAN, CTDP1, CCT5, DST, SCN10A, RETREG1, NGF, ARHGEF10, HOXD10, SCN11A, ATL3, DCAF8 Specificity 2 % Genes 100 %
Spinal Muscular Atrophy (SMA) Panel. By CeGaT GmbH in Germany. ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...) View the complete list with 7 more genes Panel GTR000522524 complete gene list ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3, PLEKHG5, DNAJB2, AARS, SLC5A7, CHCHD10, EXOSC8, FBXO38 Specificity 4 % Genes 100 %
Single gene testing TRPV4. By CeGaT GmbH in Germany. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel. By CeGaT GmbH in Germany. COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...) View the complete list with 7 more genes Panel GTR000527951 complete gene list COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, PCYT1A, XYLT1, PAPSS2, KIF22, POP1 Specificity 4 % Genes 100 %
Potentially lethal skeletal disorders Panel. By CeGaT GmbH in Germany. ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...) View the complete list with 24 more genes Panel GTR000527958 complete gene list ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2, CANT1, PTH1R, EBP, NSDHL, SOX9, GLI3, GNPAT, IFT80, TCTN3, DYNC2H1, WNT7A, NEK1, ARSE, BMPER, RNU4ATAC, FAM111A, DLL3, FLNB, LIFR, SLC35D1, TRIP11, GDF5, INPPL1, WDR34 Specificity 3 % Genes 100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel. By CeGaT GmbH in Germany. TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16 Specificity 5 % Genes 100 %
TRPV4 - Gene sequencing. By Clinical Genetics Academic Medical Center in Netherlands. TRPV4 Specificity 100 % Genes 100 %
Charcot-Marie-Tooth Disease. By Asper Biogene Asper Biogene LLC in Estonia. C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...) View the complete list with 47 more genes Panel GTR000520409 complete gene list C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, WNK1, SPTLC1, INF2, KIF5A, BSCL2, KIF1A, SETX, DCTN1, DYNC1H1, HSPB3, IGHMBP2, SCN9A, PRPS1, MORC2, MARS, COX6A1, PLEKHG5, TRIM2, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, NGF, ARHGEF10 Specificity 2 % Genes 100 %
Brachyolmia type 3. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 100 %
Charcot-Marie-Tooth 2C. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 100 %
Digital arthropathy-brachydactyly, familial. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 100 %
Metatropic dysplasia. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 100 %
Parastremmatic dwarfism. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 100 %
Scapuloperoneal spinal muscular atrophy. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 100 %
Spondyloepiphyseal dyspalsia, Maroteaux type. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal dysplasia, Kozlowski type. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 100 %
Brachyolmia type 3. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 100 %
Charcot-Marie-Tooth 2C. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 100 %
Digital arthropathy-brachydactyly, familial. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 100 %
Metatropic dysplasia. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 100 %
Parastremmatic dwarfism. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 100 %
Scapuloperoneal spinal muscular atrophy. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 100 %
Spondyloepiphyseal dyspalsia, Maroteaux type. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal dysplasia, Kozlowski type. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 100 %
Invitae Comprehensive Neuropathies Panel. By Invitae in United States. TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...) View the complete list with 50 more genes Panel GTR000551724 complete gene list TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, 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, SPG11, UBA1, INF2, BSCL2, KIF1A, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, SCN9A, DNMT1, PRPS1, MORC2, PLEKHG5, TRIM2, PDK3, GNB4, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, SLC5A7, DST, SLC52A2, SLC52A3, CHCHD10, RETREG1, NGF, SCN11A, ATL3, FBXO38 Specificity 2 % Genes 100 %
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 5 % Genes 100 %
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel. By Invitae in United States. GARS, MFN2, HARS, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...) View the complete list with 22 more genes Panel GTR000514904 complete gene list GARS, MFN2, HARS, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, SPG11, INF2, BSCL2, DYNC1H1, IGHMBP2, PRPS1, MORC2, PLEKHG5, TRIM2, PDK3, GNB4, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25 Specificity 3 % Genes 100 %
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel. By Invitae in United States. GARS, MFN2, HARS, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, INF2, BSCL2, DYNC1H1, MORC2 , (...) View the complete list with 4 more genes Panel GTR000514958 complete gene list GARS, MFN2, HARS, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, INF2, BSCL2, DYNC1H1, MORC2, GNB4, TFG, LRSAM1, AARS Specificity 5 % Genes 100 %
Spondylometaphyseal dysplasia, Kozlowski type: TRPV4 gene sequence analysis (exons 5, 6, 8-9, 11-14). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TRPV4 Specificity 100 % Genes 100 %
Charcot Marie-Tooth disease: TRPV4 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal dysplasia, Kozlowski type: TRPV4 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TRPV4 Specificity 100 % Genes 100 %
CHARCOT- MARIE TOOTH. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...) View the complete list with 12 more genes Panel GTR000531426 complete gene list GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, INF2, BSCL2, DYNC1H1, PRPS1, LRSAM1, AARS, MED25 Specificity 4 % Genes 100 %
Skeletal dysplasias. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...) View the complete list with 16 more genes Panel GTR000531666 complete gene list ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP, NSDHL, COMP, SOX9, EVC, EVC2, ARSE, WISP3, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, MATN3, DDR2, MMP13, MMP9 Specificity 3 % Genes 100 %
Disproportionate Short Stature: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...) View the complete list with 65 more genes Panel GTR000512595 complete gene list ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, DYM, CHST14, GLI3, IFT140, SH3PXD2B, BMPR1B, IFT80, EVC, EVC2, B3GALT6, IFT122, EIF2AK3, DHCR24, EXT2, EXT1, SMARCAL1, TCTN3, WNT5A, DYNC2H1, ROR2, ICK, NEK1, ARSE, CUL7, OBSL1, TBCE, MESP2, HES7, LFNG, GPC6, CHST3, NKX3-2, DLL3, ACP5, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, GDF5, MATN3, DDR2, MMP13, MMP9, NPR2, IHH, TBX6, PAPSS2, ACAN, KIF22, SULF1 Specificity 2 % Genes 100 %
Hereditary Neuropathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...) View the complete list with 70 more genes Panel GTR000512603 complete gene list TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM, MRE11, MTTP, PEX7, SACS, SLC12A6, TTPA, 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, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6, KIF1A, SPART, SPG21, DCTN1, DYNC1H1, IGHMBP2, KCNA1, CACNB4, SLC1A3, TDP1, SIL1, KCNC3, ITPR1, FGF14, TTBK2, SPTBN2, SCN9A, DNMT1, PRPS1, PLEKHG5, DNAJB2, LRSAM1, AARS, MED25, GAN, ZFYVE27, CTDP1, RETREG1, NGF, HOXD10 Specificity 2 % Genes 100 %
Skeletal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...) View the complete list with 143 more genes Panel GTR000512649 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, TCTN3, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1 Specificity 1 % Genes 100 %
Disproportionate Short Stature: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...) View the complete list with 56 more genes Panel GTR000558820 complete gene list ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, IFT140, SH3PXD2B, BMPR1B, IFT80, EVC, EVC2, B3GALT6, IFT122, EIF2AK3, DHCR24, EXT2, EXT1, SMARCAL1, TCTN3, WNT5A, DYNC2H1, ROR2, ICK, NEK1, CUL7, OBSL1, TBCE, GPC6, CHST3, NKX3-2, ACP5, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, GDF5, MATN3, DDR2, MMP13, MMP9, NPR2, IHH, PAPSS2, KIF22, SULF1 Specificity 2 % Genes 100 %
Hereditary Neuropathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...) View the complete list with 70 more genes Panel GTR000560748 complete gene list TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM, MRE11, MTTP, PEX7, SACS, SLC12A6, TTPA, 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, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6, KIF1A, SPART, SPG21, DCTN1, DYNC1H1, IGHMBP2, KCNA1, CACNB4, SLC1A3, TDP1, SIL1, KCNC3, ITPR1, FGF14, TTBK2, SPTBN2, SCN9A, DNMT1, PRPS1, PLEKHG5, DNAJB2, LRSAM1, AARS, MED25, GAN, ZFYVE27, CTDP1, RETREG1, NGF, HOXD10 Specificity 2 % Genes 100 %
Hereditary Neuropathies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. TTR, GARS, KIF1B, MFN2, SPTLC2, GLA, NDRG1, SBF2, PRX, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...) View the complete list with 13 more genes Panel GTR000507860 complete gene list TTR, GARS, KIF1B, MFN2, SPTLC2, GLA, NDRG1, SBF2, PRX, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, ATL1, DYNC1H1, SCN9A, DNMT1, LRSAM1, AARS, MED25 Specificity 4 % Genes 100 %
Skeletal Dysplasias NGS panel. By Fulgent Genetics Fulgent Genetics in United States. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...) View the complete list with 141 more genes Panel GTR000515853 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1 Specificity 1 % Genes 100 %
Distal Hereditary Motor Neuropathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ATP7A, GARS, REEP1, FIG4, TRPV4, HSPB8, HSPB1, BSCL2, SETX, DCTN1, MEGF10, IGHMBP2, DNMT1, GAN, SLC5A7 Specificity 7 % Genes 100 %
Charcot Marie Tooth Disease Extended NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...) View the complete list with 29 more genes Panel GTR000515878 complete gene list TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, BSCL2, KIF1A, DYNC1H1, IGHMBP2, SCN9A, DNMT1, PRPS1, PLEKHG5, DNAJB2, LRSAM1, AARS, MED25, GAN, RETREG1, NGF Specificity 3 % Genes 100 %
TRPV4. By Fulgent Genetics Fulgent Genetics in United States. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel. By Blueprint Genetics in Finland. COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...) View the complete list with 8 more genes Panel GTR000552714 complete gene list COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, PCYT1A, PAPSS2, ACAN, KIF22, LONP1 Specificity 4 % Genes 100 %
Charcot-Marie-Tooth Neuropathy Panel. By Blueprint Genetics in Finland. TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...) View the complete list with 78 more genes Panel GTR000552820 complete gene list TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1, FXN, SEPT9, NEFH, ELP1, SACS, SLC12A6, 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, SPG11, INF2, MYOT, LDB3, KIF5A, BSCL2, BAG3, KIF1A, SETX, DCTN1, DYNC1H1, IGHMBP2, SCN9A, DNMT1, PRPS1, SMAD3, MME, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, HINT1, TFG, LRSAM1, AARS, MED25, GAN, CTDP1, CCT5, COX10, DST, SLC25A46, CHCHD10, RETREG1, NGF, ARHGEF10, SCN11A, ATL3, DCAF8, PRDM12, MCM3AP, ATAD3A Specificity 2 % Genes 100 %
Arthrogryposes Panel. By Blueprint Genetics in Finland. FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...) View the complete list with 49 more genes Panel GTR000552659 complete gene list FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON, KLHL40, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, COL6A2, TSEN54, CASK, KAT6B, CHRNG, ZC4H2, EXOSC3, TSEN2, NALCN, FLVCR2, FBN2, CHST14, TGFB3, GLE1, TNNI2, TNNT3, MYH3, PIEZO2, ADGRG6, CNTNAP1, ZBTB42, MYBPC1, ECEL1, RIPK4, ERBB3, ERCC6, MYH8, DHCR24, VPS33B, VIPAS39, ERCC5, CHUK Specificity 2 % Genes 100 %
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 4 % Genes 100 %
Skeletal Dysplasias Core Panel. By Blueprint Genetics in Finland. ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...) View the complete list with 91 more genes Panel GTR000558786 complete gene list ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2, TCIRG1, PPIB, TNFRSF11B, LMX1B, FGFR3, COL10A1, RMRP, RUNX2, VDR, FGFR2, CDKN1C, SMAD4, SBDS, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PHEX, FGF23, HSPG2, FLNA, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, KAT6B, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, ADAMTSL2, DYM, IFT140, LTBP2, BMPR1B, WDR19, GNPAT, PLS3, BMP1, SERPINH1, TTC21B, IFT80, EVC, EVC2, B3GALT6, EIF2AK3, DHCR24, SMARCAL1, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, ROR2, NEK1, ARSE, CUL7, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, ENPP1, SLC34A3, WISP3, CHST3, DLL3, ACP5, FLNB, LIFR, TRIP11, ADAMTS10, GDF5, TRAPPC2, MATN3, INPPL1, MMP9, NPR2, IHH, XYLT1, DVL1, PAPSS2, ACAN Specificity 1 % Genes 100 %
Comprehensive Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...) View the complete list with 226 more genes Panel GTR000558787 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, ARSB, FGFR3, FANCC, COL10A1, CREBBP, IDS, PTPN11, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PEX7, SLC26A2, TRPV4, LMNA, NF1, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, ANKRD11, SETBP1, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, KAT6B, WDR35, CANT1, PTH1R, FANCB, EBP, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, GNAS, GJA1, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, AKT1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, MATN3, TBX3, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L Specificity 1 % Genes 100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...) View the complete list with 288 more genes Panel GTR000561533 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, PITX2, OTX2, RAF1, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, SOX2, HESX1, LMX1B, COL5A1, COL5A2, ARSB, FGFR3, FANCC, BRAF, COL10A1, CREBBP, DHCR7, HRAS, IDS, KRAS, MAP2K1, NRAS, PTPN11, RMRP, RUNX2, SHOC2, SOS1, VDR, FGFR2, HDAC8, RIT1, MAP2K2, RAD21, CBL, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PROP1, PEX7, SLC26A2, TRPV4, LMNA, NF1, GHRHR, FGFR1, SHOX, CASR, POU1F1, GH1, GHR, PHEX, FGF23, ANO5, HSPG2, CENPJ, FLNA, ANKRD11, FGD1, SETBP1, LBR, ACTB, ACTG1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, LZTR1, PEX14, PEX19, KAT6B, WDR35, CANT1, PTH1R, MBTPS2, FANCB, EBP, SOX3, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, RASA2, RRAS, CEP152, GLI2, PCNT, ATR, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, TBX19, LHX4, LHX3, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, TRIM37, GNAS, GJA1, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, RBBP8, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, INSR, AKT1, EXT2, EXT1, STAT5B, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, SRCAP, CSPP1, WNT5A, RTTN, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, CCNQ, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CEP63, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, OBSL1, CCDC8, LARP7, POC1A, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, IGF1, MATN3, TBX3, IGF1R, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IGFALS, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L, IRS1 Specificity 1 % Genes 100 %
Charcot-Marie-Tooth neuropathy type 2C. By Bioarray in Spain. TRPV4 Specificity 100 % Genes 100 %
Brachyolmia type 3. By Bioarray in Spain. TRPV4 Specificity 100 % Genes 100 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 2C. By Laboratorio de Genetica Clinica SL in Spain. TRPV4 Specificity 100 % Genes 100 %
CHARCOT-MARIE-TOOTH : NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. GARS, KIF1B, MFN2, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...) View the complete list with 14 more genes Panel GTR000558228 complete gene list GARS, KIF1B, MFN2, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, INF2, BSCL2, DYNC1H1, PRPS1, PDK3, LRSAM1, AARS, MED25 Specificity 3 % Genes 100 %
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE. By Laboratorio de Genetica Clinica SL in Spain. TRPV4 Specificity 100 % Genes 100 %
Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel. By LifeLabs Genetics in Canada. GARS, KIF1B, MFN2, SLC12A6, GDAP1, TRPV4, MPZ, NEFL, HSPB8, HSPB1, YARS, DNM2, LMNA, DYNC1H1, AARS, MED25, GAN, ARHGEF10 Specificity 6 % Genes 100 %
Charcot-Marie-Tooth Disease Type 2, Sequencing TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 100 %
Brachyolmia Type 3 , Sequencing TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal Dysplasia Type Kozlowsky, Sequencing TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 100 %
Spondylometaphyseal Dysplasia Type Kozlowsky, Sequencing Exons (5,6,8,9,11-14) TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 100 %
Scapuloperoneal Spinal Muscular Atrophy , Sequencing TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 100 %
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes. By Reference Laboratory Genetics in Spain. GARS, KIF1B, MFN2, PHYH, PEX7, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF , (...) View the complete list with 11 more genes Panel GTR000559548 complete gene list GARS, KIF1B, MFN2, PHYH, PEX7, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, PRPS1, AARS, MED25, GAN Specificity 4 % Genes 100 %
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes. By Reference Laboratory Genetics in Spain. GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...) View the complete list with 12 more genes Panel GTR000559707 complete gene list GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, INF2, BSCL2, DYNC1H1, PRPS1, LRSAM1, AARS, MED25 Specificity 4 % Genes 100 %
Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. COL2A1, TRPV4, LPIN2, WISP3, IL1RN, HPGD, ACAN Specificity 15 % Genes 100 %
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 3 % Genes 100 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes. By Reference Laboratory Genetics in Spain. ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...) View the complete list with 16 more genes Panel GTR000559863 complete gene list ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP, NSDHL, COMP, SOX9, EVC, EVC2, ARSE, WISP3, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, MATN3, DDR2, MMP13, MMP9 Specificity 3 % Genes 100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes. By Reference Laboratory Genetics in Spain. GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...) View the complete list with 91 more genes Panel GTR000559873 complete gene list GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TOR1A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, TPM3, ACTA1, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, PEX6, CACNA1C, PEX14, PEX3, PEX26, PEX10, PEX12, PEX5, CHRNG, LAMP2, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14, TNNT3, PEX11B, AMPD3 Specificity 1 % Genes 100 %
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes. By Reference Laboratory Genetics in Spain. GARS, KIF1B, MFN2, HARS, NAGLU, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, DNM2, LMNA, DYNC1H1, IGHMBP2, MME, LRSAM1, AARS, MED25 Specificity 5 % Genes 100 %
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 6 % Genes 100 %
TRPV4-Associated Disorders: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. TRPV4 Specificity 100 % Genes 100 %

Alternate names

Hereditary Motor And Sensory Neuropathy, Type Iic; Hmsn2c Is also known as hmsn iic, charcot-marie-tooth disease, axonal, autosomal dominant, type 2c;cmt2c, charcot-marie-tooth neuropathy, type 2c;cmt2c.

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