Avascular Necrosis Of Femoral Head, Primary, 2; Anfh2

Description

Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.

Genes related to Avascular Necrosis Of Femoral Head, Primary, 2; Anfh2

TRPV4
COL2A1

Clinical Features

Phenotypes and symptoms related to Avascular Necrosis Of Femoral Head, Primary, 2; Anfh2

Pain
Arthralgia
Aseptic necrosis
Hypercoagulability
Hip pain

Incidence and onset information

— Not enough data available about incidence and published cases.

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Avascular Necrosis Of Femoral Head, Primary, 2; Anfh2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant. By Athena Diagnostics Inc in United States. DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, MFN2, GARS Specificity 8 % Genes 50 %
CMT Advanced Evaluation - Dominant, Axonal. By Athena Diagnostics Inc in United States. LMNA, DNM2, YARS, HSPB1, RAB7A, HSPB8, NEFL, MPZ, TRPV4, MFN2, GARS Specificity 10 % Genes 50 %
CMT Advanced Evaluation - Comprehensive. By Athena Diagnostics Inc in United States. GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2 , (...) View the complete list with 3 more genes Panel GTR000512806 complete gene list GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, MFN2, GARS Specificity 5 % Genes 50 %
CMT Advanced Evaluation - Axonal. By Athena Diagnostics Inc in United States. GJB1, LMNA, DNM2, YARS, HSPB1, RAB7A, HSPB8, NEFL, MPZ, TRPV4, GDAP1, MFN2, GARS Specificity 8 % Genes 50 %
TRPV4 DNA Sequencing Test. By Athena Diagnostics Inc in United States. TRPV4 Specificity 100 % Genes 50 %
CMT Advanced Evaluation - Nonprevalent. By Athena Diagnostics Inc in United States. GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1 , (...) View the complete list with 1 more genes Panel GTR000552488 complete gene list GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, GARS Specificity 5 % Genes 50 %
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc in United States. IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, UBA1, HSPB1, HSPB8, TRPV4, GARS Specificity 10 % Genes 50 %
CMT Advanced Evaluation - Nonprevalent Axonal. By Athena Diagnostics Inc in United States. GJB1, LMNA, DNM2, YARS, HSPB1, RAB7A, HSPB8, NEFL, TRPV4, GDAP1, GARS Specificity 10 % Genes 50 %
NGS Skeletal Dysplasia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SOX9, COMP, FLNA, HSPG2, TRPV4, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1 Specificity 20 % Genes 100 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, MME, PRPS1, IGHMBP2, DYNC1H1 , (...) View the complete list with 34 more genes Panel GTR000558962 complete gene list GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, MME, PRPS1, IGHMBP2, DYNC1H1, BSCL2, INF2, SPG11, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, NEFH, SURF1, AIFM1, KARS, HARS, VCP, MFN2, KIF1B, GARS Specificity 2 % Genes 50 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1 , (...) View the complete list with 124 more genes Panel GTR000556370 complete gene list GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1, PLEKHG5, LAS1L, LAMP2, CHRNG, DNMT1, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, VRK1, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, DCTN1, SETX, RYR1, CACNA1S, SELENON, FHL1, BAG3, BSCL2, ATP2A1, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, SCN4A, DYSF, UBA1, CAV3, FKRP, PABPN1, CLCN1, LMNA, DNM2, HSPB1, HSPB8, TRPV4, FIG4, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, MGME1, PMM2, PYGM, SUCLG1, CHAT, PHKA1, TYMP, DPM1, TK2, POLG2, REEP1, PNPLA2, SUCLA2, DPM3, CAVIN1, AGK, VCP, CRYAB, RRM2B, GARS, SLC25A4, POLG, TRIM32, GNE, GAA, TWNK, ATP7A Specificity 1 % Genes 50 %
Charcot-Marie-Tooth Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MED25, AARS, LRSAM1, DNAJB2, PRPS1, IGHMBP2, DYNC1H1, DCTN1, BSCL2, SPTLC1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL , (...) View the complete list with 14 more genes Panel GTR000552154 complete gene list MED25, AARS, LRSAM1, DNAJB2, PRPS1, IGHMBP2, DYNC1H1, DCTN1, BSCL2, SPTLC1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, MFN2, KIF1B, GARS Specificity 3 % Genes 50 %
Charcot Marie Tooth Panel. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. MED25, AARS, LRSAM1, DNAJB2, PDK3, MARS, PRPS1, IGHMBP2, DYNC1H1, SPTLC1, GJB1, LMNA, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ , (...) View the complete list with 14 more genes Panel GTR000529452 complete gene list MED25, AARS, LRSAM1, DNAJB2, PDK3, MARS, PRPS1, IGHMBP2, DYNC1H1, SPTLC1, GJB1, LMNA, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, AIFM1, MFN2, KIF1B, GARS, TTR Specificity 3 % Genes 50 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...) View the complete list with 19 more genes Panel GTR000522271 complete gene list TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35, LBR, FLNA, HSPG2, FGFR1, TRPV4, SLC26A2, PEX7, FGFR2, RUNX2, FGFR3, PPIB, AGPS, CRTAP, P3H1, COL1A2, COL1A1, COL2A1, FKBP10, ALPL Specificity 6 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal. By ARUP Laboratories, Molecular Genetics and Genomics in United States. TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...) View the complete list with 19 more genes Panel GTR000522272 complete gene list TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35, LBR, FLNA, HSPG2, FGFR1, TRPV4, SLC26A2, PEX7, FGFR2, RUNX2, FGFR3, PPIB, AGPS, CRTAP, P3H1, COL1A2, COL1A1, COL2A1, FKBP10, ALPL Specificity 6 % 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. HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5 , (...) View the complete list with 58 more genes Panel GTR000525862 complete gene list HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, MARS, LAS1L, MYH14, PRPS1, SOX10, DNMT1, SCN9A, TDP1, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, KIF1A, BAG3, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, HK1, HEXA, AIFM1, REEP1, SPTLC2, KARS, HARS, MFN2, KIF1B, GARS, FBLN5, ATP7A Specificity 2 % Genes 50 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5 , (...) View the complete list with 58 more genes Panel GTR000525863 complete gene list HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, MARS, LAS1L, MYH14, PRPS1, SOX10, DNMT1, SCN9A, TDP1, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, KIF1A, BAG3, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, HK1, HEXA, AIFM1, REEP1, SPTLC2, KARS, HARS, MFN2, KIF1B, GARS, FBLN5, ATP7A Specificity 2 % Genes 50 %
Scapuloperoneal Spinal Muscular Atrophy. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 50 %
Charcot-Marie-Tooth Neuropathy Type 2C. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 50 %
Distal Congenital Nonprogressive Spinal Muscular Atrophy. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 50 %
Brachyolmia type 3. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 50 %
Metatropic Dysplasia. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal Dysplasia, Kozlowski Type. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 50 %
Brachyolmia type 2. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. TRPV4 Specificity 100 % Genes 50 %
TRPV4. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TRPV4 Specificity 100 % Genes 50 %
TRPV4. Sequencing of the exons 5 and 6. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TRPV4 Specificity 100 % Genes 50 %
TRPV4. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TRPV4 Specificity 100 % Genes 50 %
Distal Congenital Nonprogressive Spinal Muscular Atrophy. By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 50 %
Scapuloperoneal Spinal Muscular Atrophy. By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 50 %
Charcot-Marie-Tooth disease type 2C (sequence analysis of TRPV4 gene). By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 50 %
Metatropic dysplasia (p.R594H and p.P799L mutations on TRPV4 gene). By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal dysplasia (sequence analysis of TRPV4 gene). By CGC Genetics in Portugal. TRPV4 Specificity 100 % Genes 50 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes). By CGC Genetics in Portugal. DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, DST, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2 , (...) View the complete list with 54 more genes Panel GTR000523729 complete gene list DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, DST, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, SOX10, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, SEPT9, HK1, PHYH, AIFM1, TYMP, REEP1, SPTLC2, KARS, MFN2, KIF1B, GARS, C12orf65, TWNK, ABHD12, TTR Specificity 2 % Genes 50 %
Skeletal dysplasia (NGS panel for 31 genes). By CGC Genetics in Portugal. MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...) View the complete list with 11 more genes Panel GTR000523894 complete gene list MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, CRTAP, P3H1, COL1A2, COL1A1, COL2A1, ALPL Specificity 7 % Genes 100 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes). By CGC Genetics in Portugal. HOXD10, MED25, AARS, LRSAM1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, IGHMBP2, DYNC1H1, INF2, GJB1, LMNA, DNM2, YARS, HSPB1 , (...) View the complete list with 23 more genes Panel GTR000525188 complete gene list HOXD10, MED25, AARS, LRSAM1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, IGHMBP2, DYNC1H1, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, HK1, AIFM1, KARS, MFN2, KIF1B, GARS, C12orf65 Specificity 3 % Genes 50 %
Spinal muscular atrophy (NGS panel for 21 genes). By CGC Genetics in Portugal. FBXO38, EXOSC8, CHCHD10, SLC5A7, DNAJB2, PLEKHG5, ASAH1, IGHMBP2, VRK1, DYNC1H1, BICD2, VAPB, DCTN1, BSCL2, UBA1, HSPB8, TRPV4, SCO2, REEP1, GARS , (...) View the complete list with 1 more genes Panel GTR000525731 complete gene list FBXO38, EXOSC8, CHCHD10, SLC5A7, DNAJB2, PLEKHG5, ASAH1, IGHMBP2, VRK1, DYNC1H1, BICD2, VAPB, DCTN1, BSCL2, UBA1, HSPB8, TRPV4, SCO2, REEP1, GARS, ATP7A Specificity 5 % Genes 50 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CTDP1, MED25, AARS, LRSAM1, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, PRPS1, IGHMBP2, DYNC1H1, KIF5A, INF2, GJB1, LMNA , (...) View the complete list with 25 more genes Panel GTR000530220 complete gene list CTDP1, MED25, AARS, LRSAM1, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, PRPS1, IGHMBP2, DYNC1H1, KIF5A, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, HK1, AIFM1, KARS, MFN2, GARS, FBLN5 Specificity 3 % Genes 50 %
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MED25, AARS, LRSAM1, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, PRPS1, IGHMBP2, DYNC1H1, KIF5A, INF2, LMNA, DNM2, HSPB1 , (...) View the complete list with 18 more genes Panel GTR000530222 complete gene list MED25, AARS, LRSAM1, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, PRPS1, IGHMBP2, DYNC1H1, KIF5A, INF2, LMNA, DNM2, HSPB1, RAB7A, HSPB8, NEFL, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, HK1, AIFM1, KARS, MFN2, GARS Specificity 3 % Genes 50 %
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. FBXO38, SYT2, SLC5A7, GAN, AARS, HINT1, DNAJB2, LAS1L, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, SIGMAR1, BSCL2, HSPB1, HSPB8, TRPV4, REEP1 , (...) View the complete list with 2 more genes Panel GTR000509894 complete gene list FBXO38, SYT2, SLC5A7, GAN, AARS, HINT1, DNAJB2, LAS1L, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, SIGMAR1, BSCL2, HSPB1, HSPB8, TRPV4, REEP1, GARS, ATP7A Specificity 5 % Genes 50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...) View the complete list with 238 more genes Panel GTR000558369 complete gene list TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1, IHH, BHLHA9, SMOC1, WNT3, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, INPPL1, SNX10, MMP13, EOGT, DDR2, TBX3, HDAC4, MEOX1, MATN3, TRAPPC2, GDF5, PTHLH, HPGD, RBPJ, DOCK6, LFNG, HES7, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, ENPP1, FAM111A, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, ERF, MEGF8, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, IRF6, CCNQ, WNT7A, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RIN2, WNT5A, CEP120, SRCAP, AFF4, TCTN3, SMARCAL1, MGP, EXT1, EXT2, GDF3, ALX1, FREM1, HOXA11, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, TTC21B, GORAB, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, SH3BP2, ASXL1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, LHX4, FGF10, RIPK4, ZMPSTE24, PITX1, PIEZO2, WDR19, BMPR1B, CDH3, IFT140, GDF6, TP63, GLI3, NFIX, ACVR1, ZNF469, CHST14, TNXB, FKBP14, FBN2, SKI, TGFBR2, TGFBR1, DYM, ADAMTSL2, PCNT, SOX9, COMP, TWIST1, MSX2, RAB23, NSDHL, EBP, PTH1R, CANT1, WDR35, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, LBR, FGD1, ANKRD11, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, PROK2, SHOX, FGFR1, TRPV4, SLC26A2, PEX7, ADAMTS2, PRKAR1A, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, SBDS, GPC3, NSD1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, VDR, RUNX2, RMRP, PLOD1, CREBBP, COL10A1, FGFR3, COL5A2, COL5A1, LMX1B, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AGPS, SQSTM1, PLOD2, CRTAP, P3H1, COG1, SLC39A13, SP7, SERPINF1, DHODH, FBN1, SHH, CLCN7, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 100 %
TRPV4-related Disorders via the TRPV4 Gene. By PreventionGenetics PreventionGenetics in United States. TRPV4 Specificity 100 % Genes 50 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. NGF, RETREG1, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, LAS1L , (...) View the complete list with 51 more genes Panel GTR000552096 complete gene list NGF, RETREG1, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, LAS1L, PRPS1, DNMT1, SCN9A, IGHMBP2, HSPB3, DYNC1H1, BICD2, MEGF10, DCTN1, SETX, KIF1A, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, HK1, AIFM1, REEP1, SPTLC2, KARS, MFN2, GARS, FBLN5, ATP7A, TTR Specificity 2 % Genes 50 %
Charcot-Marie-Tooth disease Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1 , (...) View the complete list with 23 more genes Panel GTR000559047 complete gene list ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, AIFM1, HADHB, KARS, MFN2, KIF1B, GARS, C12orf65 Specificity 3 % Genes 50 %
Charcot-Marie-Tooth disease NGS panel. By Connective Tissue Gene Tests in United States. ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1 , (...) View the complete list with 23 more genes Panel GTR000559053 complete gene list ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, AIFM1, HADHB, KARS, MFN2, KIF1B, GARS, C12orf65 Specificity 3 % Genes 50 %
Charcot-Marie-Tooth disease Comprehensive panel. By Connective Tissue Gene Tests in United States. ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1 , (...) View the complete list with 23 more genes Panel GTR000559062 complete gene list ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, AIFM1, HADHB, KARS, MFN2, KIF1B, GARS, C12orf65 Specificity 3 % Genes 50 %
Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. FBXO38, DCAF8, SLC5A7, GAN, HINT1, DNAJB2, PDK3, PLEKHG5, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, SIGMAR1, BSCL2, GJB1, HSPB1, HSPB8, TRPV4 , (...) View the complete list with 4 more genes Panel GTR000559082 complete gene list FBXO38, DCAF8, SLC5A7, GAN, HINT1, DNAJB2, PDK3, PLEKHG5, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, SIGMAR1, BSCL2, GJB1, HSPB1, HSPB8, TRPV4, REEP1, HARS, GARS, ATP7A Specificity 5 % Genes 50 %
Distal hereditary motor neuropathy and related disorders NGS panel. By Connective Tissue Gene Tests in United States. FBXO38, DCAF8, SLC5A7, GAN, HINT1, DNAJB2, PDK3, PLEKHG5, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, SIGMAR1, BSCL2, GJB1, HSPB1, HSPB8, TRPV4 , (...) View the complete list with 4 more genes Panel GTR000559132 complete gene list FBXO38, DCAF8, SLC5A7, GAN, HINT1, DNAJB2, PDK3, PLEKHG5, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, SIGMAR1, BSCL2, GJB1, HSPB1, HSPB8, TRPV4, REEP1, HARS, GARS, ATP7A Specificity 5 % Genes 50 %
Distal hereditary motor neuropathy and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. FBXO38, DCAF8, SLC5A7, GAN, HINT1, DNAJB2, PDK3, PLEKHG5, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, SIGMAR1, BSCL2, GJB1, HSPB1, HSPB8, TRPV4 , (...) View the complete list with 4 more genes Panel GTR000559149 complete gene list FBXO38, DCAF8, SLC5A7, GAN, HINT1, DNAJB2, PDK3, PLEKHG5, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, SIGMAR1, BSCL2, GJB1, HSPB1, HSPB8, TRPV4, REEP1, HARS, GARS, ATP7A Specificity 5 % Genes 50 %
Skeletal dysplasia extended NGS panel. By Connective Tissue Gene Tests in United States. MMP9, MMP13, DDR2, SLC35D1, LIFR, FLNB, ARSE, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, PEX7, SBDS, RMRP, COL10A1 Specificity 6 % Genes 50 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...) View the complete list with 34 more genes Panel GTR000559319 complete gene list RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, LIFR, FLNB, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, RNU4ATAC, NEK1, SMARCAL1, EIF2AK3, B3GALT6, BGN, B3GAT3, CFAP410, DYM, COMP, PTH1R, CANT1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, HSPG2, TRPV4, SLC26A2, SBDS, RUNX2, RMRP, IDUA, COL10A1, FGFR3, COL2A1 Specificity 4 % Genes 100 %
Skeletal dysplasia core & extended Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...) View the complete list with 9 more genes Panel GTR000559336 complete gene list MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL Specificity 7 % Genes 100 %
Skeletal dysplasia extended Comprehensive panel. By Connective Tissue Gene Tests in United States. MMP9, MMP13, DDR2, SLC35D1, LIFR, FLNB, ARSE, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, PEX7, SBDS, RMRP, COL10A1 Specificity 6 % Genes 50 %
Skeletal dysplasia core & extended Comprehensive panel. By Connective Tissue Gene Tests in United States. MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...) View the complete list with 9 more genes Panel GTR000559351 complete gene list MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL Specificity 7 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel. By Connective Tissue Gene Tests in United States. RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...) View the complete list with 34 more genes Panel GTR000559381 complete gene list RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, LIFR, FLNB, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, RNU4ATAC, NEK1, SMARCAL1, EIF2AK3, B3GALT6, BGN, B3GAT3, CFAP410, DYM, COMP, PTH1R, CANT1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, HSPG2, TRPV4, SLC26A2, SBDS, RUNX2, RMRP, IDUA, COL10A1, FGFR3, COL2A1 Specificity 4 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel. By Connective Tissue Gene Tests in United States. RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...) View the complete list with 34 more genes Panel GTR000559385 complete gene list RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, LIFR, FLNB, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, RNU4ATAC, NEK1, SMARCAL1, EIF2AK3, B3GALT6, BGN, B3GAT3, CFAP410, DYM, COMP, PTH1R, CANT1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, HSPG2, TRPV4, SLC26A2, SBDS, RUNX2, RMRP, IDUA, COL10A1, FGFR3, COL2A1 Specificity 4 % Genes 100 %
Skeletal dysplasia core & extended NGS panel. By Connective Tissue Gene Tests in United States. MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...) View the complete list with 9 more genes Panel GTR000559386 complete gene list MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL Specificity 7 % Genes 100 %
Skeletal dysplasia extended Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. MMP9, MMP13, DDR2, SLC35D1, LIFR, FLNB, ARSE, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, PEX7, SBDS, RMRP, COL10A1 Specificity 6 % Genes 50 %
Spondyloepiphyseal dysplasia, Maroteaux type Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal dysplasia, Kozlowski type Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Hereditary motor and sensory neuropathy, type IIC Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Spinal muscular atrophy, distal, congenital nonprogressive Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Metatropic dysplasia Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Metatropic dysplasia Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Hereditary motor and sensory neuropathy, type IIC Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal dysplasia, Kozlowski type Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Parastremmatic dwarfism Comprehensive test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Parastremmatic dwarfism Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Spinal muscular atrophy, distal, congenital nonprogressive Sequencng test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia, Maroteaux type Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Hereditary motor and sensory neuropathy, type IIC Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal dysplasia, Kozlowski type Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Metatropic dysplasia Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia, Maroteaux type Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Parastremmatic dwarfism Sequencing test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Spinal muscular atrophy, distal, congenital nonprogressive Deletion / Duplication test. By Connective Tissue Gene Tests in United States. TRPV4 Specificity 100 % Genes 50 %
Spinal muscular atrophy, distal, congenital nonprogressive. By Institute of Human Genetics Cologne University in Germany. TRPV4 Specificity 100 % Genes 50 %
Neuropathy. By MGZ Medical Genetics Center in Germany. KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...) View the complete list with 102 more genes Panel GTR000521130 complete gene list KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10, CTDP1, SLC5A7, TNNT2, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, PDK3, PLEKHG5, MARS, SMAD3, LAS1L, PEX12, MYH14, PRPS1, DNMT1, SCN9A, TDP1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, UBQLN2, VAPB, ANG, TARDBP, DCTN1, SETX, FUS, ALS2, KIF1A, BSCL2, NIPA1, KIF5A, SPAST, MATR3, INF2, SPG11, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, SACS, PLP1, ELP1, SOD1, SEPT9, CYP27A1, FXN, GBE1, HK1, NDUFAF5, SURF1, HEXA, AIFM1, PDHA1, SQSTM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, VCP, HADHA, MFN2, GARS, POLG, AMACR, OPTN, FBLN5, GAA, C12orf65, ATP7A, ABHD12, TTR Specificity 1 % Genes 50 %
Charcot-Marie-Tooth Neuropathy Type 2C. By MGZ Medical Genetics Center in Germany. TRPV4 Specificity 100 % Genes 50 %
Newborn: “Floppy Infant “. By MGZ Medical Genetics Center in Germany. SLC52A3, ALG14, GMPPB, POMK, FKBP14, LAS1L, LAMP2, CUL4B, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2 , (...) View the complete list with 53 more genes Panel GTR000521064 complete gene list SLC52A3, ALG14, GMPPB, POMK, FKBP14, LAS1L, LAMP2, CUL4B, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, ISPD, TCAP, POMT1, POMT2, PLEC, SYNE1, IGHMBP2, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, SELENON, TTN, SCN4A, UBA1, FKRP, LMNA, DNM2, EGR2, NEFL, MPZ, TRPV4, GDAP1, RAPSN, POMGNT1, NEB, FKTN, DOK7, CHRNE, DPAGT1, GBE1, CHAT, ALG2, MFN2, GARS, GAA Specificity 2 % Genes 50 %
Spinal Muscular Atrophy, Proximal Motor Neuropathy. By MGZ Medical Genetics Center in Germany. CLP1, SLC52A3, SLC52A2, TFG, LAS1L, IGHMBP2, DYNC1H1, BICD2, VAPB, SETX, LMNA, TRPV4, HEXA, MFN2 Specificity 8 % Genes 50 %
Muscle Weakness (Myopathy, Muscular Dystrophy). By MGZ Medical Genetics Center in Germany. SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14 , (...) View the complete list with 159 more genes Panel GTR000521098 complete gene list SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, AARS, HINT1, TNXB, FKBP14, LAS1L, LAMP2, MYH14, CUL4B, SNAP25, HNRNPU, GOSR2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, CACNA1S, SELENON, FHL1, BAG3, HSPG2, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, UBA1, CAV3, FKRP, CLCN1, LMNA, DNM2, EGR2, NEFL, MPZ, TRPV4, GDAP1, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, PHOX2B, DMD, DPAGT1, SDHA, KIF21A, SEPT9, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CHAT, CPT1A, ISCU, COX15, LPIN1, ABHD5, TAZ, PUS1, SCO2, ALG2, HADHB, GFM1, TK2, POLG2, PNPLA2, SLC25A3, PGM1, CAVIN1, TMEM70, AGK, MTO1, VCP, HADHA, CRYAB, MFN2, RRM2B, GARS, SLC25A4, POLG, TRIM32, GNE, CPT2, AMACR, TUBB3, GAA, TWNK, ACADVL, AGL, ACADS, ACADM, ACAD9, TTR Specificity 1 % Genes 50 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR). By MGZ Medical Genetics Center in Germany. STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD , (...) View the complete list with 70 more genes Panel GTR000521121 complete gene list STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, EMD, TMEM43, MYH2, ACTA1, RYR1, SELENON, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, CAV3, FKRP, CLCN1, LMNA, DNM2, TRPV4, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, DMD, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, ISCU, LPIN1, ABHD5, PUS1, HADHB, TK2, PNPLA2, VCP, HADHA, CRYAB, RRM2B, POLG, TRIM32, GNE, CPT2, DYNC1H1, BICD2, MTM1, GAA, ACADVL, AGL, ACADM Specificity 2 % Genes 50 %
Charcot Marie Tooth Type 2 Panel. By FirmaLab in United States. MED25, AARS, LMNA, DNM2, YARS, HSPB1, RAB7A, HSPB8, NEFL, MPZ, TRPV4, GDAP1, MFN2, KIF1B, GARS Specificity 7 % Genes 50 %
CMT2C. By Centogene AG - the Rare Disease Company in Germany. TRPV4 Specificity 100 % Genes 50 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 50 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel. By CeGaT GmbH in Germany. PRPH, ADD3, VPS54, KLC4, FLRT1, ARSI, ATP2B4, ARHGEF28, KANK1, HNRNPA1, HNRNPA2B1, AIMP1, FAM126A, STUB1, GRID2, SLC1A4, AMPD2, CCDC88C, ARL6IP1, IBA57 , (...) View the complete list with 123 more genes Panel GTR000522437 complete gene list PRPH, ADD3, VPS54, KLC4, FLRT1, ARSI, ATP2B4, ARHGEF28, KANK1, HNRNPA1, HNRNPA2B1, AIMP1, FAM126A, STUB1, GRID2, SLC1A4, AMPD2, CCDC88C, ARL6IP1, IBA57, VEGFA, COASY, CCT5, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, HACE1, REEP2, ERLIN1, LYST, GAN, TFG, PLEKHG5, MARS, CLCN2, SLC16A2, SOX10, GFAP, RAB3GAP1, PQBP1, ASAH1, PDYN, VAMP1, IGHMBP2, VRK1, HSPB3, BICD2, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, C9orf72, SPG11, ZFYVE26, ATL1, DNM2, HSPB1, HSPB8, TRPV4, FIG4, PLA2G6, TH, SACS, PLP1, GJC2, GBA, CYP27A1, GBE1, SLC25A15, GALC, NDUFV1, HEXA, ABCD1, ABCB7, GAD1, SPG7, REEP1, DARS2, SPR, MTPAP, ALDH18A1, VCP, OPA3, FARS2, NEFH, SOD1, PANK2, AFG3L2, GARS, HSPD1, ELOVL4, GLB1, OPA1, OPTN, PSEN1, C12orf65, AUH, ATP7A, ARG1, ABHD12, MTHFR Specificity 1 % Genes 50 %
Spinal Muscular Atrophy Panel. By CeGaT GmbH in Germany. FBXO38, EXOSC8, CHCHD10, SLC5A7, AARS, DNAJB2, PLEKHG5, EXOSC3, LAS1L, ASAH1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, VAPB, DCTN1, BSCL2, UBA1, HSPB1 , (...) View the complete list with 7 more genes Panel GTR000522467 complete gene list FBXO38, EXOSC8, CHCHD10, SLC5A7, AARS, DNAJB2, PLEKHG5, EXOSC3, LAS1L, ASAH1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, VAPB, DCTN1, BSCL2, UBA1, HSPB1, HSPB8, TRPV4, HEXA, SCO2, REEP1, GARS, ATP7A Specificity 4 % Genes 50 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel. By CeGaT GmbH in Germany. DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1 , (...) View the complete list with 64 more genes Panel GTR000522516 complete gene list DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MYH14, PRPS1, SOX10, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, SEPT9, HK1, SURF1, AIFM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, HADHA, MFN2, KIF1B, GARS, POLG, OPA1, FBLN5, C12orf65, TWNK, ABHD12, TTR Specificity 2 % Genes 50 %
Spinal Muscular Atrophy (SMA) Panel. By CeGaT GmbH in Germany. FBXO38, EXOSC8, CHCHD10, SLC5A7, AARS, DNAJB2, PLEKHG5, EXOSC3, LAS1L, ASAH1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, VAPB, DCTN1, BSCL2, UBA1, HSPB1 , (...) View the complete list with 7 more genes Panel GTR000522524 complete gene list FBXO38, EXOSC8, CHCHD10, SLC5A7, AARS, DNAJB2, PLEKHG5, EXOSC3, LAS1L, ASAH1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, VAPB, DCTN1, BSCL2, UBA1, HSPB1, HSPB8, TRPV4, HEXA, SCO2, REEP1, GARS, ATP7A Specificity 4 % Genes 50 %
Single gene testing TRPV4. By CeGaT GmbH in Germany. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel. By CeGaT GmbH in Germany. POP1, KIF22, PAPSS2, XYLT1, PCYT1A, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, DYM, CANT1 , (...) View the complete list with 7 more genes Panel GTR000527951 complete gene list POP1, KIF22, PAPSS2, XYLT1, PCYT1A, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, IMPAD1, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, DYM, CANT1, COL11A2, COL11A1, HSPG2, TRPV4, RMRP, SLC39A13, COL2A1 Specificity 8 % Genes 100 %
Potentially lethal skeletal disorders Panel. By CeGaT GmbH in Germany. WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9 , (...) View the complete list with 24 more genes Panel GTR000527958 complete gene list WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9, NSDHL, EBP, PTH1R, CANT1, COL11A2, COL11A1, LBR, OFD1, FLNA, TRPV4, SLC26A2, PEX7, FGFR2, DHCR7, FGFR3, PPIB, FAM20C, AGPS, CRTAP, P3H1, COL1A2, COL1A1, COL2A1, ALPL Specificity 5 % Genes 100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel. By CeGaT GmbH in Germany. FGF16, LMBR1, NOG, FBLN1, IHH, BHLHA9, BMP2, WNT10B, GDF5, PTHLH, HOXD13, LRP4, WNT7A, ROR2, HOXA11, GJA1, BMPR1B, TP63, GLI3, TRPV4 Specificity 5 % Genes 50 %
TRPV4 - Gene sequencing. By Clinical Genetics Academic Medical Center in Netherlands. TRPV4 Specificity 100 % Genes 50 %
Charcot-Marie-Tooth Disease. By Asper Biogene Asper Biogene LLC in Estonia. ARHGEF10, NGF, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, PRPS1, SCN9A , (...) View the complete list with 47 more genes Panel GTR000520409 complete gene list ARHGEF10, NGF, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, PRPS1, SCN9A, IGHMBP2, HSPB3, DYNC1H1, DCTN1, SETX, KIF1A, BSCL2, KIF5A, INF2, SPTLC1, WNK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, ARSA, HK1, NAGLU, SURF1, AIFM1, TYMP, REEP1, SPTLC2, KARS, HARS, VCP, MFN2, KIF1B, GARS, POLG, C12orf65 Specificity 2 % Genes 50 %
Brachyolmia type 3. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 50 %
Charcot-Marie-Tooth 2C. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 50 %
Digital arthropathy-brachydactyly, familial. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 50 %
Metatropic dysplasia. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 50 %
Parastremmatic dwarfism. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 50 %
Scapuloperoneal spinal muscular atrophy. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 50 %
Spondyloepiphyseal dyspalsia, Maroteaux type. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal dysplasia, Kozlowski type. By Praxis fuer Humangenetik Wien in Austria. TRPV4 Specificity 100 % Genes 50 %
Brachyolmia type 3. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 50 %
Charcot-Marie-Tooth 2C. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 50 %
Digital arthropathy-brachydactyly, familial. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 50 %
Metatropic dysplasia. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 50 %
Parastremmatic dwarfism. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 50 %
Scapuloperoneal spinal muscular atrophy. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 50 %
Spondyloepiphyseal dyspalsia, Maroteaux type. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal dysplasia, Kozlowski type. By MedGene in Slovakia. TRPV4 Specificity 100 % Genes 50 %
Invitae Comprehensive Neuropathies Panel. By Invitae in United States. FBXO38, ATL3, SCN11A, NGF, RETREG1, CHCHD10, SLC52A3, SLC52A2, DST, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, GNB4, PDK3, TRIM2 , (...) View the complete list with 50 more genes Panel GTR000551724 complete gene list FBXO38, ATL3, SCN11A, NGF, RETREG1, CHCHD10, SLC52A3, SLC52A2, DST, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, GNB4, PDK3, TRIM2, PLEKHG5, MORC2, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, BICD2, VAPB, DCTN1, SIGMAR1, KIF1A, BSCL2, INF2, UBA1, SPG11, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, ELP1, AIFM1, REEP1, SPTLC2, HARS, MFN2, GARS, ATP7A, TTR Specificity 2 % Genes 50 %
Invitae Hereditary Motor Neuropathy Panel. By Invitae in United States. FBXO38, CHCHD10, SLC5A7, HINT1, DNAJB2, PLEKHG5, IGHMBP2, DYNC1H1, BICD2, VAPB, DCTN1, SIGMAR1, BSCL2, UBA1, SMN2, HSPB1, HSPB8, TRPV4, SMN1, REEP1 , (...) View the complete list with 2 more genes Panel GTR000551813 complete gene list FBXO38, CHCHD10, SLC5A7, HINT1, DNAJB2, PLEKHG5, IGHMBP2, DYNC1H1, BICD2, VAPB, DCTN1, SIGMAR1, BSCL2, UBA1, SMN2, HSPB1, HSPB8, TRPV4, SMN1, REEP1, GARS, ATP7A Specificity 5 % Genes 50 %
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel. By Invitae in United States. MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, GNB4, PDK3, TRIM2, PLEKHG5, MORC2, PRPS1, IGHMBP2, DYNC1H1, BSCL2, INF2, SPG11, GJB1, LMNA, DNM2 , (...) View the complete list with 22 more genes Panel GTR000514904 complete gene list MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, GNB4, PDK3, TRIM2, PLEKHG5, MORC2, PRPS1, IGHMBP2, DYNC1H1, BSCL2, INF2, SPG11, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, AIFM1, HARS, MFN2, GARS Specificity 3 % Genes 50 %
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel. By Invitae in United States. AARS, LRSAM1, TFG, GNB4, MORC2, DYNC1H1, BSCL2, INF2, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4 , (...) View the complete list with 4 more genes Panel GTR000514958 complete gene list AARS, LRSAM1, TFG, GNB4, MORC2, DYNC1H1, BSCL2, INF2, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, HARS, MFN2, GARS Specificity 5 % Genes 50 %
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 50 %
Charcot Marie-Tooth disease: TRPV4 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal dysplasia, Kozlowski type: TRPV4 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TRPV4 Specificity 100 % Genes 50 %
CHARCOT- MARIE TOOTH. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MED25, AARS, LRSAM1, PRPS1, DYNC1H1, BSCL2, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4 , (...) View the complete list with 12 more genes Panel GTR000531426 complete gene list MED25, AARS, LRSAM1, PRPS1, DYNC1H1, BSCL2, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, HK1, MFN2, KIF1B, GARS Specificity 4 % Genes 50 %
Skeletal dysplasias. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...) View the complete list with 16 more genes Panel GTR000531666 complete gene list MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL Specificity 6 % Genes 100 %
Disproportionate Short Stature: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...) View the complete list with 65 more genes Panel GTR000512595 complete gene list SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2, CHST3, GPC6, LFNG, HES7, MESP2, TBCE, OBSL1, CUL7, ARSE, NEK1, ICK, ROR2, DYNC2H1, WNT5A, TCTN3, SMARCAL1, EXT1, EXT2, DHCR24, EIF2AK3, IFT122, B3GALT6, EVC2, EVC, IFT80, BMPR1B, SH3PXD2B, IFT140, GLI3, CHST14, DYM, PCNT, SOX9, COMP, EBP, PTH1R, CANT1, WDR35, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, HSPG2, ANO5, SHOX, FGFR1, TRPV4, SLC26A2, PRKAR1A, CDKN1C, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, FAM20C, CTSK, AGPS, SLC39A13, FBN1, COL1A1, COL2A1, ANKH Specificity 3 % Genes 100 %
Hereditary Neuropathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...) View the complete list with 70 more genes Panel GTR000512603 complete gene list HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1, TDP1, SLC1A3, CACNB4, KCNA1, IGHMBP2, DYNC1H1, DCTN1, SPG21, SPART, KIF1A, PNPLA6, WASHC5, BSCL2, NIPA1, L1CAM, KIF5A, SPAST, SPG11, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TTPA, SLC12A6, SACS, PEX7, MTTP, MRE11, ATM, PLP1, GLA, ELP1, APTX, FXN, PHYH, ALDH3A2, SPG7, REEP1, COQ8A, SPTLC2, MFN2, KIF1B, GARS, POLG, PRKCG, TWNK, ATP7A, TTR Specificity 2 % Genes 50 %
Skeletal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...) View the complete list with 143 more genes Panel GTR000512649 complete gene list SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4, MATN3, GDF5, PTHLH, HPGD, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, NKX3-2, CHST3, HOXD13, GPC6, MMP2, WISP3, DMP1, SLC34A3, CLCN5, ENPP1, TBCE, OBSL1, CUL7, LRP4, NEK1, ICK, WNT7A, TBX15, ROR2, ESCO2, DYNC2H1, WNT5A, TCTN3, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, TREM2, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, KIF7, RPGRIP1L, THPO, GORAB, SERPINH1, GNAS, TBX5, SALL4, FGF10, ZMPSTE24, PITX1, BMPR1B, SH3PXD2B, CDH3, IFT140, TP63, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, CHSY1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, SHOX, FGFR1, LMNA, TRPV4, TMEM216, SLC26A2, PRKAR1A, CDKN1C, NIPBL, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, MKS1, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, PLOD2, CRTAP, P3H1, SLC39A13, SLC25A12, SP7, FBN1, SHH, CEP290, TMEM67, ATP6V0A2, CC2D2A, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 2 % Genes 100 %
Disproportionate Short Stature: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...) View the complete list with 56 more genes Panel GTR000558820 complete gene list SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE, OBSL1, CUL7, NEK1, ICK, ROR2, DYNC2H1, WNT5A, TCTN3, SMARCAL1, EXT1, EXT2, DHCR24, EIF2AK3, IFT122, B3GALT6, EVC2, EVC, IFT80, BMPR1B, SH3PXD2B, IFT140, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, HSPG2, ANO5, SHOX, FGFR1, TRPV4, SLC26A2, PRKAR1A, CDKN1C, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, FAM20C, CTSK, SLC39A13, FBN1, COL1A1, COL2A1, ANKH Specificity 3 % Genes 100 %
Hereditary Neuropathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...) View the complete list with 70 more genes Panel GTR000560748 complete gene list HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1, TDP1, SLC1A3, CACNB4, KCNA1, IGHMBP2, DYNC1H1, DCTN1, SPG21, SPART, KIF1A, PNPLA6, WASHC5, BSCL2, NIPA1, L1CAM, KIF5A, SPAST, SPG11, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TTPA, SLC12A6, SACS, PEX7, MTTP, MRE11, ATM, PLP1, GLA, ELP1, APTX, FXN, PHYH, ALDH3A2, SPG7, REEP1, COQ8A, SPTLC2, MFN2, KIF1B, GARS, POLG, PRKCG, TWNK, ATP7A, TTR Specificity 2 % Genes 50 %
Hereditary Neuropathies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MED25, AARS, LRSAM1, DNMT1, SCN9A, DYNC1H1, ATL1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4 , (...) View the complete list with 13 more genes Panel GTR000507860 complete gene list MED25, AARS, LRSAM1, DNMT1, SCN9A, DYNC1H1, ATL1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, PRX, SBF2, NDRG1, GLA, SPTLC2, MFN2, KIF1B, GARS, TTR Specificity 4 % Genes 50 %
Skeletal Dysplasias NGS panel. By Fulgent Genetics Fulgent Genetics in United States. SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...) View the complete list with 141 more genes Panel GTR000515853 complete gene list SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4, MATN3, GDF5, PTHLH, HPGD, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, NKX3-2, CHST3, HOXD13, GPC6, MMP2, WISP3, DMP1, SLC34A3, CLCN5, ENPP1, TBCE, OBSL1, CUL7, LRP4, NEK1, ICK, WNT7A, TBX15, ROR2, ESCO2, DYNC2H1, WNT5A, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, TREM2, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, KIF7, RPGRIP1L, THPO, GORAB, SERPINH1, GNAS, TBX5, SALL4, FGF10, ZMPSTE24, PITX1, BMPR1B, SH3PXD2B, CDH3, IFT140, TP63, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, CHSY1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, FGFR1, LMNA, TRPV4, TMEM216, SLC26A2, PRKAR1A, CDKN1C, NIPBL, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, MKS1, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, PLOD2, CRTAP, P3H1, SLC39A13, SLC25A12, SP7, FBN1, SHH, CEP290, TMEM67, ATP6V0A2, CC2D2A, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 2 % Genes 100 %
Distal Hereditary Motor Neuropathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SLC5A7, GAN, DNMT1, IGHMBP2, MEGF10, DCTN1, SETX, BSCL2, HSPB1, HSPB8, TRPV4, FIG4, REEP1, GARS, ATP7A Specificity 7 % Genes 50 %
Charcot Marie Tooth Disease Extended NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. NGF, RETREG1, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, ATL1, SPTLC1, WNK1, NTRK1, GJB1 , (...) View the complete list with 29 more genes Panel GTR000515878 complete gene list NGF, RETREG1, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, GLA, ELP1, REEP1, SPTLC2, MFN2, KIF1B, GARS, ATP7A, TTR Specificity 3 % Genes 50 %
TRPV4. By Fulgent Genetics Fulgent Genetics in United States. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel. By Blueprint Genetics in Finland. LONP1, KIF22, ACAN, PAPSS2, PCYT1A, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, BGN, DYM , (...) View the complete list with 8 more genes Panel GTR000552714 complete gene list LONP1, KIF22, ACAN, PAPSS2, PCYT1A, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B, ACP5, NKX3-2, CHST3, WISP3, SMARCAL1, EIF2AK3, B3GALT6, BGN, DYM, CANT1, COL11A2, COL11A1, HSPG2, TRPV4, RMRP, SLC39A13, COL2A1 Specificity 8 % Genes 100 %
Charcot-Marie-Tooth Neuropathy Panel. By Blueprint Genetics in Finland. ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG , (...) View the complete list with 78 more genes Panel GTR000552820 complete gene list ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MME, SMAD3, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, DCTN1, SETX, KIF1A, BAG3, BSCL2, KIF5A, LDB3, MYOT, INF2, SPG11, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, SACS, ELP1, NEFH, SEPT9, FXN, HK1, SURF1, AIFM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, VCP, MFN2, KIF1B, GARS, POLG, GNE, AMACR, FBLN5, C12orf65, ATP7A, TTR Specificity 2 % Genes 50 %
Arthrogryposes Panel. By Blueprint Genetics in Finland. CHUK, ERCC5, VIPAS39, VPS33B, DHCR24, MYH8, ERCC6, ERBB3, RIPK4, ECEL1, MYBPC1, ZBTB42, CNTNAP1, ADGRG6, PIEZO2, MYH3, TNNT3, TNNI2, GLE1, TGFB3 , (...) View the complete list with 49 more genes Panel GTR000552659 complete gene list CHUK, ERCC5, VIPAS39, VPS33B, DHCR24, MYH8, ERCC6, ERBB3, RIPK4, ECEL1, MYBPC1, ZBTB42, CNTNAP1, ADGRG6, PIEZO2, MYH3, TNNT3, TNNI2, GLE1, TGFB3, CHST14, FBN2, FLVCR2, NALCN, TSEN2, EXOSC3, ZC4H2, CHRNG, KAT6B, CASK, TSEN54, COL6A2, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, VRK1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, ACTA1, TPM3, KLHL40, SELENON, FHL1, EGR2, MPZ, TRPV4, RAPSN, NEB, FKTN, DOK7, CHRNE, GBA, DPAGT1, PMM2, GBE1, CHAT, SCO2, PLOD2, TK2, RARS2, FKBP10 Specificity 2 % Genes 50 %
Spinal Muscular Atrophy Panel. By Blueprint Genetics in Finland. FBXO38, EXOSC8, CHCHD10, TBCE, SLC5A7, AARS, DNAJB2, PLEKHG5, EXOSC3, LAS1L, ASAH1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, VAPB, DCTN1, BSCL2, UBA1 , (...) View the complete list with 10 more genes Panel GTR000552779 complete gene list FBXO38, EXOSC8, CHCHD10, TBCE, SLC5A7, AARS, DNAJB2, PLEKHG5, EXOSC3, LAS1L, ASAH1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, VAPB, DCTN1, BSCL2, UBA1, SMN2, HSPB1, HSPB8, TRPV4, SMN1, HEXA, SCO2, REEP1, GARS, ATP7A Specificity 4 % Genes 50 %
Skeletal Dysplasias Core Panel. By Blueprint Genetics in Finland. ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3 , (...) View the complete list with 91 more genes Panel GTR000558786 complete gene list ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3, ENPP1, OBSL1, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CUL7, ARSE, NEK1, ROR2, ESCO2, DYNC2H1, WNT5A, CSPP1, IFT172, SMARCAL1, DHCR24, EIF2AK3, B3GALT6, EVC2, EVC, IFT80, TTC21B, SERPINH1, BMP1, PLS3, GNPAT, WDR19, BMPR1B, LTBP2, IFT140, DYM, ADAMTSL2, PCNT, SOX9, COMP, EBP, PTH1R, CANT1, WDR35, KAT6B, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, FLNA, HSPG2, FGF23, PHEX, SHOX, FGFR1, TRPV4, SLC26A2, PEX7, SBDS, SMAD4, CDKN1C, FGFR2, VDR, RUNX2, RMRP, COL10A1, FGFR3, LMX1B, TNFRSF11B, PPIB, TCIRG1, CA2, FAM20C, CYP27B1, CTSK, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SERPINF1, CLCN7, TNFRSF11A, TGFB1, COL1A2, COL1A1, COL2A1, LRP5, FKBP10, ANKH, ALPL Specificity 2 % Genes 100 %
Comprehensive Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...) View the complete list with 226 more genes Panel GTR000558787 complete gene list CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, TBX3, MATN3, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, ACP5, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, WNT5A, CSPP1, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, AKT1, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, GJA1, GNAS, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, PCNT, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, EBP, FANCB, PTH1R, CANT1, WDR35, KAT6B, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, SETBP1, ANKRD11, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, SHOX, FGFR1, RNU4ATAC, NF1, LMNA, TRPV4, SLC26A2, PEX7, PRKAR1A, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, VDR, RUNX2, RMRP, PTPN11, IDS, CREBBP, COL10A1, FANCC, FGFR3, ARSB, LMX1B, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...) View the complete list with 288 more genes Panel GTR000561533 complete gene list IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, IGF1R, TBX3, MATN3, IGF1, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, CEP63, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, CCNQ, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RTTN, WNT5A, CSPP1, SRCAP, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, STAT5B, EXT1, EXT2, AKT1, INSR, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, RBBP8, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, GJA1, GNAS, TRIM37, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, LHX3, LHX4, TBX19, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, SOX3, EBP, FANCB, MBTPS2, PTH1R, CANT1, WDR35, KAT6B, PEX19, PEX14, LZTR1, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, ACTG1, ACTB, LBR, SETBP1, FGD1, ANKRD11, FLNA, CENPJ, HSPG2, ANO5, FGF23, PHEX, GHR, GH1, POU1F1, CASR, SHOX, FGFR1, GHRHR, NF1, LMNA, TRPV4, SLC26A2, PEX7, PROP1, PRKAR1A, ACP5, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, FGFR2, VDR, SOS1, SHOC2, RUNX2, RMRP, PTPN11, NRAS, MAP2K1, KRAS, IDS, HRAS, DHCR7, CREBBP, COL10A1, BRAF, FANCC, FGFR3, ARSB, COL5A2, COL5A1, LMX1B, HESX1, SOX2, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, RAF1, OTX2, PITX2, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, BCS1L, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 100 %
Charcot-Marie-Tooth neuropathy type 2C. By Bioarray in Spain. TRPV4 Specificity 100 % Genes 50 %
Brachyolmia type 3. By Bioarray in Spain. TRPV4 Specificity 100 % Genes 50 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 2C. By Laboratorio de Genetica Clinica SL in Spain. TRPV4 Specificity 100 % Genes 50 %
CHARCOT-MARIE-TOOTH : NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. MED25, AARS, LRSAM1, PDK3, PRPS1, DYNC1H1, BSCL2, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ , (...) View the complete list with 14 more genes Panel GTR000558228 complete gene list MED25, AARS, LRSAM1, PDK3, PRPS1, DYNC1H1, BSCL2, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, HK1, KARS, MFN2, KIF1B, GARS Specificity 3 % Genes 50 %
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE. By Laboratorio de Genetica Clinica SL in Spain. TRPV4 Specificity 100 % Genes 50 %
Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel. By LifeLabs Genetics in Canada. ARHGEF10, GAN, MED25, AARS, DYNC1H1, LMNA, DNM2, YARS, HSPB1, HSPB8, NEFL, MPZ, TRPV4, GDAP1, SLC12A6, MFN2, KIF1B, GARS Specificity 6 % Genes 50 %
Charcot-Marie-Tooth Disease Type 2, Sequencing TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 50 %
Brachyolmia Type 3 , Sequencing TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal Dysplasia Type Kozlowsky, Sequencing TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 50 %
Spondylometaphyseal Dysplasia Type Kozlowsky, Sequencing Exons (5,6,8,9,11-14) TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 50 %
Scapuloperoneal Spinal Muscular Atrophy , Sequencing TRPV4 Gene. By Reference Laboratory Genetics in Spain. TRPV4 Specificity 100 % Genes 50 %
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes. By Reference Laboratory Genetics in Spain. GAN, MED25, AARS, PRPS1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2 , (...) View the complete list with 11 more genes Panel GTR000559548 complete gene list GAN, MED25, AARS, PRPS1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, PEX7, PHYH, MFN2, KIF1B, GARS Specificity 4 % Genes 50 %
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes. By Reference Laboratory Genetics in Spain. MED25, AARS, LRSAM1, PRPS1, DYNC1H1, BSCL2, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4 , (...) View the complete list with 12 more genes Panel GTR000559707 complete gene list MED25, AARS, LRSAM1, PRPS1, DYNC1H1, BSCL2, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, HK1, MFN2, KIF1B, GARS Specificity 4 % Genes 50 %
Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. ACAN, HPGD, IL1RN, WISP3, LPIN2, TRPV4, COL2A1 Specificity 29 % Genes 100 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes. By Reference Laboratory Genetics in Spain. SLC52A1, SLC52A3, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, ASAH1, IGHMBP2, DYNC1H1, SETX, SIGMAR1, ALS2, BSCL2, DES, INF2, UBA1, SMN2, GJB1 , (...) View the complete list with 29 more genes Panel GTR000559824 complete gene list SLC52A1, SLC52A3, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, ASAH1, IGHMBP2, DYNC1H1, SETX, SIGMAR1, ALS2, BSCL2, DES, INF2, UBA1, SMN2, GJB1, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SMN1, ELP1, REEP1, KARS, VCP, MFN2, KIF1B, GARS, OCRL, ATP7A Specificity 3 % Genes 50 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes. By Reference Laboratory Genetics in Spain. MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...) View the complete list with 16 more genes Panel GTR000559863 complete gene list MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, HSPG2, TRPV4, SLC26A2, PEX7, SBDS, RMRP, COL10A1, FGFR3, COL1A2, COL1A1, COL2A1, ALPL Specificity 6 % Genes 100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes. By Reference Laboratory Genetics in Spain. AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7 , (...) View the complete list with 91 more genes Panel GTR000559873 complete gene list AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, VRK1, DYNC1H1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, ACTA1, TPM3, RYR1, CACNA1S, SELENON, FHL1, BAG3, BSCL2, ATP2A1, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, TOR1A, SCN4A, DYSF, UBA1, CAV3, FKRP, PABPN1, CLCN1, LMNA, DNM2, TRPV4, RAPSN, CAPN3, SGCG, POMGNT1, PEX1, SGCB, SGCA, PEX7, PEX2, NEB, FKTN, DOK7, CHRNE, DMD, PMM2, PYGM, CHAT, PHKA1, DPM1, PNPLA2, DPM3, CAVIN1, VCP, CRYAB, TRIM32, GNE, GAA Specificity 1 % Genes 50 %
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes. By Reference Laboratory Genetics in Spain. MED25, AARS, LRSAM1, MME, IGHMBP2, DYNC1H1, LMNA, DNM2, HSPB1, RAB7A, HSPB8, NEFL, MPZ, TRPV4, GDAP1, NAGLU, HARS, MFN2, KIF1B, GARS Specificity 5 % Genes 50 %
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes. By Reference Laboratory Genetics in Spain. SLC5A7, DNAJB2, PLEKHG5, ASAH1, IGHMBP2, VRK1, DYNC1H1, VAPB, DCTN1, BSCL2, UBA1, SMN2, HSPB8, TRPV4, SMN1, SCO2, REEP1, GARS, ATP7A Specificity 6 % Genes 50 %
TRPV4-Associated Disorders: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. TRPV4 Specificity 100 % Genes 50 %
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1 Specificity 1 % Genes 50 %
COL2A1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
COL2A1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
COL2A1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
COL2A1 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...) View the complete list with 151 more genes Panel GTR000560763 complete gene list GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, CEMIP, RIPOR2, TMPRSS3, TECTA, MT-TS2, MT-TS1, SLC4A11, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, EDNRA, PAX3, DCDC2, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, ACTB, SALL1, TBX1, KCNJ10, NR2F1, TBC1D24, COL4A5, SLC12A1, BSND, COL4A4, FGFR1, PMP22, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, SLC22A4, ALMS1, MANBA, AIFM1, TIMM8A, MYO7A, CISD2, KARS, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BCS1L, ANKH, USH1C, USH1G, ABHD12 Specificity 1 % Genes 50 %
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26 , (...) View the complete list with 67 more genes Panel GTR000522580 complete gene list PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26, KLF1, GATA1, WDR35, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIF23, FAT4, KIAA0586, LZTR1, PIEZO1, FOXC2, MID1, PEX6, LBR, PIGA, KMT2D, ASAH1, CHRND, CHRNA1, CLCNKB, SUMF1, SLC17A5, PEX1, G6PD, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, RPS19, PTPN11, NRAS, NPC1, MAP2K1, LIPA, KRAS, IDUA, HRAS, GLA, DHCR7, BRAF, GBA, FGFR3, PMM2, GBE1, GALNS, GUSB, CTSA, ALG1, ALG9, HADHB, RPL35A, SMPD1, RAF1, HADHA, GLB1, GNPTAB, COL2A1 Specificity 2 % Genes 50 %
Lysosomal Storage Disease Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, COL11A2 , (...) View the complete list with 55 more genes Panel GTR000525130 complete gene list DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, COL11A2, TCF4, KMT2D, ATP13A2, MFSD8, DNAJC5, ASAH1, CLN5, SUMF1, SLC17A5, PEX1, MCOLN1, PPT1, PEX2, CTNS, CLN8, CLN6, GPC3, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ARSA, ARSB, AGA, CLN3, TPP1, GALC, MAN2B1, MANBA, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CTSA, CTSK, PHYH, HEXB, GM2A, HEXA, CTSD, SMPD1, GNE, GLB1, GNPTAB, PSAP, COL2A1, GAA Specificity 2 % Genes 50 %
NGS Connective Tissue Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A1, PKD2 , (...) View the complete list with 15 more genes Panel GTR000525132 complete gene list ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5, ATP7A Specificity 3 % Genes 50 %
Stickler Syndrome Types 1, 2, and 3 (COL2A1, COL11A1, COL11A2). By Center for Human Genetics, Inc in United States. COL11A2, COL11A1, COL2A1 Specificity 34 % Genes 50 %
Kniest Dysplasia. By Center for Human Genetics, Inc in United States. COL2A1 Specificity 100 % Genes 50 %
Connective Tissue Disorders 22-gene panel. By Center for Human Genetics, Inc in United States. NTM, TGFBR3, PRKG1, MYH11, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A2, COL11A1, FLNA, COL5A2, COL5A1, FBN1, COL3A1, COL1A2 , (...) View the complete list with 2 more genes Panel GTR000529183 complete gene list NTM, TGFBR3, PRKG1, MYH11, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A2, COL11A1, FLNA, COL5A2, COL5A1, FBN1, COL3A1, COL1A2, COL1A1, COL2A1 Specificity 5 % Genes 50 %
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States. LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR , (...) View the complete list with 132 more genes Panel GTR000323596 complete gene list LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TJP2, S1PR2, SLC26A5, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, RIPOR2, TMPRSS3, TECTA, MT-TS1, TCOF1, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, BDP1, ADCY1, ACTG1, TBX1, KCNJ10, TBC1D24, COL4A5, BSND, COL4A4, FGFR1, MT-TL1, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, SLC22A4, ALMS1, AIFM1, TIMM8A, MYO7A, CISD2, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, TWNK, USH1C, USH1G Specificity 1 % Genes 50 %
Hearing Loss Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3 , (...) View the complete list with 102 more genes Panel GTR000528548 complete gene list MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, ESPN, KCNQ4, EDNRB, PAX3, DNMT1, DIAPH1, NLRP3, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, HGF, EDN3, GIPC3, DLX5, COL9A1, CCDC50, CLDN14, COCH, CACNA1D, CIB2, ATP6V1B1, ACTG1, SALL1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, ABHD5, TIMM8A, MYO7A, CISD2, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, PITX2, FOXC1, WFS1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BTD, ANKH, USH1C, USH1G, ABHD12 Specificity 1 % Genes 50 %
Connective Tissue Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. ADAMTS10, SMAD2, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1 , (...) View the complete list with 30 more genes Panel GTR000327667 complete gene list ADAMTS10, SMAD2, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ADAMTSL2, MED12, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, PKD2, ADAMTS2, SMAD4, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, ALDH18A1, FBN1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5, ATP7A Specificity 2 % Genes 50 %
COL2A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SOX9, SLC26A2, FGFR3, CRTAP, COL1A2, COL1A1, COL2A1, ALPL Specificity 13 % Genes 50 %
COL2A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
COL11A1, COL11A2, COL2A1. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL11A2, COL11A1, COL2A1 Specificity 34 % Genes 50 %
COL2A1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
COL2A1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
COL2A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Stickler syndrome Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Stickler Syndrome Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Audiome (hearing loss panel). By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SLC52A3, SLC52A2, MITF, GPSM2, GRXCR2, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, LHFPL5, LRTOMT , (...) View the complete list with 86 more genes Panel GTR000553458 complete gene list SLC52A3, SLC52A2, MITF, GPSM2, GRXCR2, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, LHFPL5, LRTOMT, FGF3, ESRRB, GSDME, TMC1, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, LARS2, TMPRSS3, TECTA, SLC4A11, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, MARVELD2, OSBPL2, PJVK, OTOF, ILDR1, COL11A2, COL11A1, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, CABP2, CIB2, ATP6V1B1, ATP6V1B2, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, HARS2, ALMS1, TIMM8A, MYO7A, CISD2, SUCLA2, MSRB3, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BCS1L, USH1C, USH1G, ABHD12 Specificity 1 % Genes 50 %
Type II Collagenopathies. By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
COL2A1-related Stickler syndrome. By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis type 2 (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Kniest Dysplasia (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal Dysplasia Congenita (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Epiphyseal dysplasia multiple (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Syndromic deafness (NGS panel for 62 genes). By CGC Genetics in Portugal. MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...) View the complete list with 42 more genes Panel GTR000523375 complete gene list MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 50 %
Epiphyseal dysplasia multiple (NGS panel for 7 gene). By CGC Genetics in Portugal. MATN3, COMP, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 15 % Genes 50 %
Syndromic and non syndromic deafness (NGS panel for 127 genes). By CGC Genetics in Portugal. TMC2, MYO1A, MITF, GPSM2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TFAP2A, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA , (...) View the complete list with 107 more genes Panel GTR000523804 complete gene list TMC2, MYO1A, MITF, GPSM2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TFAP2A, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, NLRP3, POLR1C, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, HGF, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ACTG1, KCNJ10, COL4A5, SLC12A1, BSND, COL4A4, COL4A3, CDKN1C, POU3F4, GJB6, GJB2, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, EYA4, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 1 % Genes 50 %
Stickler syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Stickler syndrome type 1 (deletion/duplication analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (sequence analyis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (deletion/duplication analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (deletion/duplication analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (sequence analyis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CAPN5, ATOH7, VCAN, RCBTB1, KIF11, ZNF408, CTNNB1, ISPD, FZD4, TSPAN12, NDP, ATP6V0A2, COL2A1, LRP5 Specificity 8 % Genes 50 %
Multiple Epiphyseal Dysplasia Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. MATN3, COMP, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 15 % Genes 50 %
Stickler Syndrome Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. VCAN, LRP2, LOXL3, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 12 % Genes 50 %
Congenital Limb Malformation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2 , (...) View the complete list with 49 more genes Panel GTR000560062 complete gene list LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2, MGP, RBM8A, GREM1, MYCN, KIF7, RPGRIP1L, THPO, ERCC4, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, GNAS, TBX5, SALL4, FGF10, PITX1, BMPR1B, CDH3, TP63, GLI3, NOTCH1, DYM, SOX9, NSDHL, CHSY1, SALL1, PIGV, FLNA, FIG4, RAD51C, BRIP1, PALB2, NIPBL, FGFR2, FGFR3, MKS1, DHODH, SHH, CEP290, CC2D2A, COL2A1, RECQL4, BRCA2 Specificity 2 % Genes 50 %
COL2A1-Related Disorders via the COL2A1 Gene. By PreventionGenetics PreventionGenetics in United States. COL2A1 Specificity 100 % Genes 50 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...) View the complete list with 285 more genes Panel GTR000552334 complete gene list ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN, PEX11B, CEP78, KIAA1549, RCBTB1, ADGRA3, TRNT1, ITM2B, RTN4IP1, LAMA1, COL18A1, TUBGCP6, TUBGCP4, PLK4, LRP2, CEP83, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, IFT172, TCTN3, SLC25A46, VSX2, B9D2, ARL13B, IFT80, CPLANE1, CEP41, IFT43, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CFH, PGK1, KIF11, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, ARL3, SPP2, DHX38, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, GDF6, DTHD1, GPR179, LRIT3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, UNC119, GNPTG, ABCC6, PEX6, PRPS1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, DNAJC5, HCN1, LARGE1, ISPD, PNPLA6, AHI1, TMEM216, CLN5, TTPA, PEX1, PEX7, PPT1, PEX2, MTTP, CLN8, CLN6, GJB6, GJB2, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, RP9, ALMS1, CLN3, TPP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, ABCD1, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, MVK, WDR35, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, CTNNB1, TMEM231, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, AMACR, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, FBLN5, MMACHC, SPATA7, NEUROD1, INVS, C12orf65, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 50 %
Achondrogenesis Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. TRIP11, SLC26A2, COL2A1 Specificity 34 % Genes 50 %
Achondrogenesis NGS panel. By Connective Tissue Gene Tests in United States. TRIP11, SLC26A2, COL2A1 Specificity 34 % Genes 50 %
Achondrogenesis Comprehensive panel. By Connective Tissue Gene Tests in United States. TRIP11, SLC26A2, COL2A1 Specificity 34 % Genes 50 %
Cleft lip, cleft palate and related disorders NGS panel. By Connective Tissue Gene Tests in United States. TBX22, SUMO1, TGDS, NECTIN1, MSX1, GRHL3, FOXE1, IRF6, BMP4, SATB2, TP63, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 6 % Genes 50 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TBX22, SUMO1, TGDS, NECTIN1, MSX1, GRHL3, FOXE1, IRF6, BMP4, SATB2, TP63, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 6 % Genes 50 %
Cleft lip, cleft palate and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. TBX22, SUMO1, TGDS, NECTIN1, MSX1, GRHL3, FOXE1, IRF6, BMP4, SATB2, TP63, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 6 % Genes 50 %
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. MATN3, COMP, CANT1, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 13 % Genes 50 %
Multiple epiphyseal dysplasia (MED) NGS panel. By Connective Tissue Gene Tests in United States. MATN3, COMP, CANT1, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 13 % Genes 50 %
Multiple epiphyseal dysplasia (MED) Comprehensive panel. By Connective Tissue Gene Tests in United States. MATN3, COMP, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 15 % Genes 50 %
Stickler syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. VCAN, LOXL3, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 13 % Genes 50 %
Vitreoretinopathy Comprehensive panel. By Connective Tissue Gene Tests in United States. CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1 Specificity 6 % Genes 50 %
Vitreoretinopathy Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1 Specificity 6 % Genes 50 %
Skeletal dysplasia core Comprehensive panel. By Connective Tissue Gene Tests in United States. INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL Specificity 10 % Genes 50 %
Skeletal dysplasia core NGS panel. By Connective Tissue Gene Tests in United States. INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL Specificity 10 % Genes 50 %
Stickler syndrome core Comprehensive panel. By Connective Tissue Gene Tests in United States. COL11A2, COL11A1, COL2A1 Specificity 34 % Genes 50 %
Stickler syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. VCAN, LOXL3, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 13 % Genes 50 %
Stickler syndrome NGS panel. By Connective Tissue Gene Tests in United States. VCAN, LOXL3, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 13 % Genes 50 %
Stickler syndrome core Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL11A2, COL11A1, COL2A1 Specificity 34 % Genes 50 %
Vitreoretinopathy NGS panel. By Connective Tissue Gene Tests in United States. CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1 Specificity 6 % Genes 50 %
Stickler syndrome core NGS panel. By Connective Tissue Gene Tests in United States. COL11A2, COL11A1, COL2A1 Specificity 34 % Genes 50 %
Skeletal dysplasia core Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL Specificity 10 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic lethal skeletal dysplasia, Torrance type Comprehensive Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita Comprehensive Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic lethal skeletal dysplasia, Torrance type Deletion / Duplication Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic lethal skeletal dysplasia, Torrance type. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita Deletion / Duplication Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia NGS test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita NGS test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia Comprehensive test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I NGS test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia Deletion / Duplication test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type NGS test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I Comprehensive test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I Deletion / Duplication test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita Comprehensive test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita Deletion / Duplication test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Cataract. By MGZ Medical Genetics Center in Germany. TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA , (...) View the complete list with 45 more genes Panel GTR000521132 complete gene list TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, COL4A2, FAM126A, ERCC5, COL18A1, TBC1D20, EPG5, CRYBA4, VSX2, RAB18, FTL, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, MYH9, COL11A1, ERCC2, RAB3GAP1, COL4A1, SIL1, SLC33A1, GLA, SIX6, CYP27A1, GALK1, GJA3, FYCO1, OPA3, CRYAB, NHS, PITX2, FOXC1, WFS1, ABCB6, PAX6, COL2A1, EYA1 Specificity 2 % Genes 50 %
Ectopia Lentis. By MGZ Medical Genetics Center in Germany. ADAMTS17, VCAN, ASPH, ADAMTS10, ADAMTSL4, COL18A1, COL11A1, CBS, FBN1, COL2A1 Specificity 10 % Genes 50 %
COL2A1-Related Stickler Syndrome. By MGZ Medical Genetics Center in Germany. COL2A1 Specificity 100 % Genes 50 %
Eye Diseases - panels. By MGZ Medical Genetics Center in Germany. OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...) View the complete list with 147 more genes Panel GTR000552433 complete gene list OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, ATOH7, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, ASPH, COL4A2, ADAMTS10, FAM126A, ADAMTSL4, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ERCC5, COL18A1, C12orf57, LRP2, FRAS1, FREM2, GRIP1, TBC1D20, EPG5, COL17A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RARB, RAB18, FTL, GJA1, CTDP1, RAB3GAP2, ERCC6, LTBP2, FOXE3, MAF, CHST6, LRMDA, SLC24A5, GDF6, ZNF469, PRDM5, ZIC2, TGIF1, TFAP2A, MYH9, SLC4A11, COL11A2, COL11A1, COL9A2, ERCC2, COL9A3, COL9A1, ACTG1, ACTB, VPS13B, TREX1, TUBB2B, SIX3, RAB3GAP1, COL4A1, SIL1, SLC33A1, ADAMTS2, GLA, CHD7, GSN, PAX2, KRT3, COL5A2, COL5A1, FZD4, KIF21A, MYOC, HESX1, SOX2, CYP4V2, SIX6, CYP27A1, GALK1, CBS, BCOR, HCCS, FRMD7, STRA6, GJA3, PHOX2A, TMEM126A, FYCO1, MTPAP, FBN1, OPA3, CRYAB, MFN2, SHH, NHS, CYP1B1, OTX2, NDP, MFRP, PITX2, FOXC1, OCRL, WFS1, ABCB6, OPA1, GPR143, TYR, TUBB3, TGFBI, ZEB1, PAX6, SLC45A2, VSX1, OCA2, COL3A1, COL2A1, LRP5, EYA1, TYRP1, RAX, FOXL2, C12orf65 Specificity 1 % Genes 50 %
Stickler Syndrome / High Myopia. By MGZ Medical Genetics Center in Germany. P3H2, VCAN, COL18A1, COL11A1, COL9A2, COL9A3, COL9A1, COL5A2, COL5A1, FBN1, COL2A1 Specificity 10 % Genes 50 %
COL2A1-Related Stickler Syndrome. By Bioscientia GmbH Center for Human Genetics in Germany. COL2A1 Specificity 100 % Genes 50 %
Type II Collagenopathies. By Bioscientia GmbH Center for Human Genetics in Germany. COL2A1 Specificity 100 % Genes 50 %
Vitreoretinopathy and Wagner syndrome panel. By Centogene AG - the Rare Disease Company in Germany. VCAN, FZD4, TSPAN12, NDP, COL2A1, LRP5 Specificity 17 % Genes 50 %
Stickler syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. COL2A1 Specificity 100 % Genes 50 %
Stickler Syndrome. By bio.logis Center for Human Genetics Diagnosticum in Germany. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
COL2A1 related disorders. By bio.logis Center for Human Genetics Diagnosticum in Germany. COL2A1 Specificity 100 % Genes 50 %
Syndromic Hearing Loss Panel. By CeGaT GmbH in Germany. MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...) View the complete list with 42 more genes Panel GTR000522364 complete gene list MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 50 %
Stickler Syndrome Panel. By CeGaT GmbH in Germany. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Stickler Syndrome Panel. By CeGaT GmbH in Germany. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Familial Exudative Vitreoretinopathy and Wagner syndrome Panel. By CeGaT GmbH in Germany. CAPN5, VCAN, ZNF408, FZD4, TSPAN12, NDP, COL2A1, LRP5 Specificity 13 % Genes 50 %
Single gene testing COL2A1. By CeGaT GmbH in Germany. COL2A1 Specificity 100 % Genes 50 %
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel. By CeGaT GmbH in Germany. MATN3, COMP, PTH1R, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 13 % Genes 50 %
Skeletal Dysplasia. By Asper Biogene Asper Biogene LLC in Estonia. TRIP11, ROR2, ESCO2, WNT5A, SOX9, SLC26A2, FGFR2, FGFR3, COL2A1, ALPL Specificity 10 % Genes 50 %
Stickler Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 17 % Genes 50 %
Eye diseases comprehensive panel. By Asper Biogene Asper Biogene LLC in Estonia. ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...) View the complete list with 255 more genes Panel GTR000553865 complete gene list ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5, VCAN, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, TACSTD2, UBIAD1, PIKFYVE, DCN, COL8A2, ITM2B, LAMA1, FRAS1, FREM2, GRIP1, B3GLCT, PRSS56, GDF3, BMP4, CRYBA4, VSX2, FREM1, VAX1, ARL13B, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, FTL, GJA1, CFH, CTDP1, KIF11, C19orf12, SDCCAG8, WDPCP, LZTFL1, WDR19, RBP4, CHST6, CDH3, IFT140, GDF6, GPR179, CNNM4, PDE6H, RAX2, RAB28, UNC119, GNPTG, ZNF469, ABCC6, PRDM5, NAA10, MVK, SLC4A11, COL11A2, COL11A1, COL9A2, GIPC3, COL9A1, CIB2, VPS13B, TREX1, OFD1, MFSD8, COL4A1, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, GSN, TEAD1, PAX2, KRT3, KRT12, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, SIX6, CNGA3, GALK1, GALT, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GJA3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, GFER, PDE6C, TRPM1, TSPAN12, LRAT, GRK1, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, FYCO1, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, AGK, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, CRYAB, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, CC2D2A, WFS1, ABCB6, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, TGFBI, CHM, ZEB1, PAX6, SLC45A2, VSX1, COL2A1, LRP5, TYRP1, SPATA7, OPN1MW, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 50 %
Vitreoretinopathy. By Asper Biogene Asper Biogene LLC in Estonia. NDP-AS1, CAPN5, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, COL2A1, LRP5, BEST1 Specificity 6 % Genes 50 %
Stickler syndrome gene panel. By Connective Tissue Laboratory Ghent University Hospital in Belgium. COL11A2, COL11A1, COL2A1 Specificity 34 % Genes 50 %
COL2A1 screening. By Connective Tissue Laboratory Ghent University Hospital in Belgium. COL2A1 Specificity 100 % Genes 50 %
COL2A1 mutational analysis. By Connective Tissue Laboratory Ghent University Hospital in Belgium. COL2A1 Specificity 100 % Genes 50 %
Type II collagenopathies, collagen type 2 alpha 1, COL2A1 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. COL2A1 Specificity 100 % Genes 50 %
Vitreoretinopathy panel. By Molecular Vision Laboratory in United States. CAPN5, ATOH7, VCAN, COL18A1, KIF11, ZNF408, COL11A2, COL11A1, COL9A2, COL9A1, COL4A5, COL4A4, COL4A3, FZD4, TSPAN12, KCNJ13, NDP, COL2A1, LRP5 Specificity 6 % Genes 50 %
Achondrogenesis, type II or hypochondrogenesis. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Czech dysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Epiphyseal dysplasia, multiple, with myopia and deafness. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Kniest dysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Legg-Calve-Perthes disease. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Osteoarthritis with mild chondrodysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Otospondylomegaepiphyseal dysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic skeletal dysplasia, Torrance type. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
SED congenita. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
SMED Strudwick type. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Stickler sydrome, type I. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Stickler sydrome, type I, nonsyndromic ocular. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
qChip. By Quantitative Genomic Medicine Laboratories, SL in Spain. SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...) View the complete list with 106 more genes Panel GTR000521292 complete gene list SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA, SATB2, EP300, TBX5, SALL4, LHX4, NR5A1, SH2D1A, NKX2-5, TP63, MITF, SNRPN, GLI3, TGFBR2, TGFBR1, ZIC2, TGIF1, SOX9, TWIST1, IL1RAPL1, SOX3, CLCNKA, EHMT1, GATA3, PAX3, SALL1, SHANK3, ZEB2, PAK3, OFD1, ADGRG1, PAFAH1B1, RELN, SIX3, EMX2, DCX, PKD1, COL4A5, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, ANOS1, CASR, SHOX, NR0B1, NF1, AHI1, MAPT, SCN1A, PMP22, BTK, SMAD4, BMPR1A, NF2, PTCH1, NSD1, NIPBL, SMC1A, TSC2, MAP2K2, SRY, SOS1, RUNX2, RAI1, PTPN11, PLP1, MAP2K1, KRAS, DHCR7, CHD7, CDKL5, BRAF, ARX, LMX1B, SOX2, TIMM8A, GK, HCCS, OTC, RS1, FBN1, MECP2, SHH, CEP290, NPHP1, NDP, JAG1, PITX2, OCRL, ELN, HNF1B, LEMD3, RB1, PAX6, WT1, APP, OCA2, COL2A1, EYA1, FOXL2, TP53, PTEN, APC, UBE3A, FMR1 Specificity 1 % Genes 50 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL in Spain. UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...) View the complete list with 116 more genes Panel GTR000552865 complete gene list UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9, MSX1, FAM83H, GRHL3, DLX3, PLCB4, EDN1, MEOX1, AMELX, EDARADD, ADAMTSL4, WNT10A, EDAR, SF3B4, FOXE1, ALX3, TCF12, ERF, MEGF8, CDC45, LRP2, SPECC1L, IRF6, EDA, CDSN, NFKBIA, AXIN2, GDF3, BMP4, ALX1, VAX1, IFT122, IL11RA, DISP1, IFT43, MASP1, SATB2, GJA1, SH3BP2, GNAI3, EFTUD2, EFNB1, SALL4, ALX4, FGF10, WDR19, GDF6, KDM6A, TP63, MITF, GLI3, EZH2, SKI, TGFBR2, TGFBR1, GLI2, CDON, ZIC2, TGIF1, TWIST1, MSX2, RAB23, NAA10, PTH1R, WDR35, KAT6B, MED12, MID1, POLR1D, TFAP2A, SEMA3E, FGF3, SIX1, TCOF1, SOX10, SNAI2, PAX3, POLR1C, DSPP, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, ZEB2, FGD1, OFD1, ANKRD11, KMT2D, SIX3, FGF8, FGFR1, PTCH1, NSD1, NIPBL, SMC1A, SMC3, RAD21, FGFR2, RUNX2, PORCN, IKBKG, GJB6, CHD7, FGFR3, CTSK, BCOR, DHODH, SHH, OTX2, PITX2, FOXC1, PAX6, COL2A1, EYA1, RECQL4 Specificity 1 % Genes 50 %
Achondrogenesis, type II or hypochondrogenesis. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Czech dysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Epiphyseal dysplasia, multiple, with myopia and deafness. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Kniest dysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Legg-Calve-Perthes disease. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Osteoarthritis with mild chondrodysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Otospondylomegaepiphyseal dysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic skeletal dysplasia, Torrance type. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
SED congenita. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
SMED Strudwick type. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Stickler sydrome, type I. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Stickler sydrome, type I, nonsyndromic ocular. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis type 2: COL2A1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL2A1 Specificity 100 % Genes 50 %
Kniest dysplasia: COL2A1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I: COL2A1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL2A1 Specificity 100 % Genes 50 %
Multiple epiphyseal dysplasia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MATN3, COMP, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 15 % Genes 50 %
Stickler syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 17 % Genes 50 %
Vitreoretinopathy and Wagner syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. VCAN, FZD4, TSPAN12, NDP, COL2A1, LRP5 Specificity 17 % Genes 50 %
NGS panel - Stickler syndrome and related disorders. By Genome Diagnostics VU University Medical Center in Netherlands. VCAN, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 13 % Genes 50 %
Eye Disorders: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 190 more genes Panel GTR000512373 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, LRMDA, SLC24A5, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, ATP13A2, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CYP27A1, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 50 %
Stickler Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Vitreoretinopathy: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCAN, COL11A1, COL9A1, FZD4, TSPAN12, KCNJ13, NDP, COL2A1, LRP5 Specificity 12 % Genes 50 %
Multiple Epiphyseal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MATN3, COMP, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 15 % Genes 50 %
Connective Tissue Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...) View the complete list with 9 more genes Panel GTR000512594 complete gene list ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5 Specificity 4 % Genes 50 %
Hearing Loss: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP , (...) View the complete list with 111 more genes Panel GTR000512601 complete gene list MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, TCOF1, SOX10, SERPINB6, SLC17A8, SIX5, P2RX2, KCNQ4, EDNRB, PAX3, DCDC2, DNMT1, DIAPH1, OTOG, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, ADCY1, ACTG1, SALL1, KCNJ10, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, HARS2, ALMS1, ABHD5, AIFM1, TIMM8A, MYO7A, CISD2, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, PITX2, FOXC1, WFS1, OPA1, HSD17B4, EYA4, COL2A1, EYA1, BTD, USH1C, USH1G, ABHD12 Specificity 1 % Genes 50 %
Retina/Photoreceptor Dystrophy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...) View the complete list with 100 more genes Panel GTR000523294 complete gene list C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, RP9, CLN3, CYP4V2, CNGA3, GRM6, OAT, TIMM8A, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, IDH3B, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, USH2A, TTC8, CLRN1, CEP290, KCNJ13, CNGB3, OTX2, NDP, CACNA1F, ABCA4, ELOVL4, OPA1, RP1, CHM, PAX6, COL2A1, LRP5, SPATA7, BEST1, AIPL1, ZNF513 Specificity 1 % Genes 50 %
Connective Tissue Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...) View the complete list with 9 more genes Panel GTR000558816 complete gene list ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5 Specificity 4 % Genes 50 %
Eye Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...) View the complete list with 187 more genes Panel GTR000559618 complete gene list SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM237, TTC21B, SDCCAG8, WDPCP, LZTFL1, RBP4, FOXE3, CDH3, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, CIB2, OFD1, MFSD8, COL4A1, KCTD7, AHI1, TMEM216, CLN5, PEX7, PPT1, MTTP, CLN8, CLN6, ROM1, RBP3, PRPF3, NR2E3, MAK, EFEMP1, FZD4, RDH5, TIMP3, MYOC, RP9, ALMS1, CLN3, TPP1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, GRM6, OAT, PHYH, BCOR, TIMM8A, HCCS, NYX, RP2, PRPF8, PRPF31, CA4, PITPNM3, STRA6, MYO7A, GUCA1A, EYS, RIMS1, LCA5, C1QTNF5, GRN, FSCN2, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, CTSD, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, GUCA1B, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, GPR143, RP1, PDZD7, TYR, PITX3, CHM, PAX6, WT1, SLC45A2, OCA2, COL2A1, LRP5, TYRP1, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 50 %
Eye Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...) View the complete list with 118 more genes Panel GTR000506412 complete gene list RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1, RBP3, PRPF3, NR2E3, PAX2, EFEMP1, TIMP3, MYOC, RP9, CLN3, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP4V2, GRM6, OAT, PHYH, BCOR, TIMM8A, RP2, PRPF8, PRPF31, CA4, PITPNM3, GUCA1A, EYS, RIMS1, LCA5, FSCN2, CERKL, RGS9, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, LRAT, PCARE, IMPG2, PDE6G, RP1L1, NRL, CNGA1, FAM161A, CNGB1, RGR, PDE6A, GUCA1B, MERTK, IDH3B, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, PRPH2, PCDH15, NPHP4, TRIM32, CEP290, MKKS, NPHP1, NPHP3, KCNJ13, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, CC2D2A, WFS1, OPA1, OPTN, RP1, RB1, CHM, PAX6, COL2A1, SPATA7, INVS, BEST1, USH1C, AIPL1, ZNF513 Specificity 1 % Genes 50 %
Connective Tissue NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ACVR1, ZNF469, ABCC6, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, COL4A1, PKD2, ADAMTS2, PLOD1, COL5A2 , (...) View the complete list with 11 more genes Panel GTR000509372 complete gene list ACVR1, ZNF469, ABCC6, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, COL4A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5 Specificity 4 % Genes 50 %
Lysosomal Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ACY1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19 , (...) View the complete list with 86 more genes Panel GTR000509436 complete gene list ACY1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, COL11A2, TCF4, ATP13A2, MFSD8, DNAJC5, ASAH1, FOLR1, LAMA2, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, PPT1, CTNS, CLN8, CLN6, GPC3, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, HPD, ARSB, AGA, CLN3, TPP1, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, MAN2B1, MANBA, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CTSA, QDPR, CTSK, ALDH7A1, PHYH, HEXB, ALDH5A1, SUOX, GM2A, HEXA, LMBRD1, AMT, GLDC, GCSH, CTSD, GAMT, SMPD1, FH, GNE, PRODH, GLB1, GNPTAB, PSAP, COL2A1, ADSL, GAA, BTD, ARG1 Specificity 1 % Genes 50 %
Vitreoretinopathy and Wagner Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. VCAN, FZD4, TSPAN12, NDP, COL2A1, LRP5 Specificity 17 % Genes 50 %
Stickler Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Multiple Epiphyseal Dysplasia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MATN3, COMP, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 15 % Genes 50 %
COL2A1. By Fulgent Genetics Fulgent Genetics in United States. COL2A1 Specificity 100 % Genes 50 %
Comprehensive Hearing Loss and Deafness Panel. By Blueprint Genetics in Finland. WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E , (...) View the complete list with 159 more genes Panel GTR000552698 complete gene list WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, SALL1, KCNJ10, SPATA5, TBC1D24, SLC33A1, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, MET, CDKN1C, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, ALMS1, SUCLG1, MAN2B1, MANBA, AIFM1, TIMM8A, MYO7A, SUCLA2, KARS, MSRB3, DIABLO, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, TRMU, HSD17B4, EYA4, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, USH1G, ABHD12 Specificity 1 % Genes 50 %
Marfan Syndrome Panel. By Blueprint Genetics in Finland. ADAMTS17, VCAN, SMAD6, ADAMTS10, ADAMTSL4, ABL1, BGN, MAT2A, TGFB3, EFEMP2, SLC2A10, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, UPF3B, MED12, COL11A2 , (...) View the complete list with 10 more genes Panel GTR000552717 complete gene list ADAMTS17, VCAN, SMAD6, ADAMTS10, ADAMTSL4, ABL1, BGN, MAT2A, TGFB3, EFEMP2, SLC2A10, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, UPF3B, MED12, COL11A2, COL11A1, PLOD1, COL5A2, COL5A1, CBS, FBN1, COL3A1, COL1A2, COL1A1, COL2A1 Specificity 4 % Genes 50 %
Retinal Dystrophy Panel. By Blueprint Genetics in Finland. ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...) View the complete list with 240 more genes Panel GTR000552782 complete gene list ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1, COL18A1, LRP2, ZNF423, CEP164, CSPP1, PDE6D, TMEM107, CEP104, IFT172, TCTN3, SLC25A46, B9D2, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, CTC1, KIF11, SDCCAG8, WDPCP, BBIP1, LZTFL1, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, EMC1, AGBL5, RBP4, SPP2, DHX38, CDH3, IMPG1, DRAM2, CTNNA1, IFT140, DTHD1, GPR179, LRIT3, GNB3, CNNM4, PDE6H, RAX2, RAB28, TTLL5, POC1B, ATF6, CFAP410, GNPTG, MVK, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CTNNB1, TMEM231, PEX6, PRPS1, COL11A1, COL9A2, COL9A3, COL9A1, CIB2, VPS13B, TREX1, OFD1, NR2F1, MFSD8, PNPLA6, AHI1, TMEM216, TTPA, PEX1, PEX7, PEX2, MTTP, NMNAT1, ROM1, RBP3, PRPF3, NR2E3, MAK, TEAD1, PAX2, EFEMP1, FZD4, RDH5, TIMP3, ALMS1, CLN3, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, CNGA3, HK1, HGSNAT, GRM6, OAT, PHYH, TIMM8A, NYX, FRMD7, RP2, PRPF8, PRPF31, CA4, PITPNM3, MYO7A, GUCA1A, EYS, RIMS1, LCA5, CISD2, C1QTNF5, CERKL, RGS9, FLVCR1, IQCB1, TOPORS, SEMA4A, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, PRCD, RD3, RDH12, ADAM9, KLHL7, TMEM126A, PDE6C, TRPM1, TSPAN12, LRAT, PCARE, IMPG2, PDE6G, RP1L1, CDHR1, NRL, CNGA1, FAM161A, GNAT2, RS1, CNGB1, RGR, PDE6A, SLC24A1, DHDDS, MERTK, PRPF6, C8orf37, HARS, IDH3B, ACO2, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, OPA3, PANK2, MFN2, PRPH2, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, KIAA0586, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CNGB3, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, RP1, PDZD7, CHM, PRKCG, COL2A1, LRP5, MMACHC, SPATA7, INVS, BEST1, USH1C, USH1G, AIPL1, ZNF513, ABHD12 Specificity 1 % Genes 50 %
Lysosomal Disorders and Mucopolysaccharidosis Panel. By Blueprint Genetics in Finland. ACY1, MAN1B1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13 , (...) View the complete list with 82 more genes Panel GTR000552784 complete gene list ACY1, MAN1B1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, FUCA1, PEX6, COL11A2, TCF4, ATP13A2, MFSD8, ASAH1, FOLR1, LAMA2, LDB3, MYOT, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, PPT1, CTNS, CLN8, CLN6, GPC3, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, ARSB, AGA, CLN3, TPP1, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, MAN2B1, MANBA, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CTSA, QDPR, CTSK, ALDH7A1, PHYH, HEXB, ALDH5A1, SUOX, GM2A, HEXA, AMT, GLDC, CTSD, GAMT, SMPD1, FH, GNE, PRODH, GLB1, GNPTAB, PSAP, COL2A1, ADSL, GAA, BTD, ARG1 Specificity 1 % Genes 50 %
Stickler Syndrome Panel. By Blueprint Genetics in Finland. VCAN, LRP2, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, COL2A1 Specificity 13 % Genes 50 %
Syndromic Hearing Loss Panel. By Blueprint Genetics in Finland. FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1 , (...) View the complete list with 66 more genes Panel GTR000552639 complete gene list FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, LARS2, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, DNMT1, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, CLPP, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, ACTG1, SALL1, KCNJ10, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, CDKN1C, CHD7, HARS2, ALMS1, MAN2B1, MANBA, TIMM8A, MYO7A, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 50 %
Aorta Panel. By Blueprint Genetics in Finland. ADAMTS17, SMAD6, ADAMTS10, GATA5, ADAMTSL4, ENPP1, ABL1, BGN, SMAD2, MAT2A, MFAP5, TGFB3, EFEMP2, ZNF469, ABCC6, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...) View the complete list with 21 more genes Panel GTR000552671 complete gene list ADAMTS17, SMAD6, ADAMTS10, GATA5, ADAMTSL4, ENPP1, ABL1, BGN, SMAD2, MAT2A, MFAP5, TGFB3, EFEMP2, ZNF469, ABCC6, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, ALDH18A1, FBN1, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5 Specificity 3 % Genes 50 %
Ehlers-Danlos Syndrome Panel. By Blueprint Genetics in Finland. DSE, BGN, EFEMP2, ZNF469, ABCC6, CHST14, FKBP14, FBN2, TGFBR2, TGFBR1, SMAD3, TGFB2, COL11A1, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13 , (...) View the complete list with 12 more genes Panel GTR000552678 complete gene list DSE, BGN, EFEMP2, ZNF469, ABCC6, CHST14, FKBP14, FBN2, TGFBR2, TGFBR1, SMAD3, TGFB2, COL11A1, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, ALDH18A1, FBN1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5, B4GALT7, ATP7A Specificity 4 % Genes 50 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1, EGF, SSR4, CNNM2, GPHN, PCK1, HMBS, TRPM6, UROD, SLC5A1, FMO3, LCT, HGD, UMPS, FXYD2, SLC7A9, PEX11B, GYG1, PEPD, FLNB, CLDN19, CLDN16, RBCK1, SLC6A19, ACY1, SLC30A10, ECHS1, LIPT1, CLPB, SERAC1, FAM111A, MAN1B1, SLC25A1, REN, AGPAT2, PLIN1, TBC1D4, LIPE, HJV, HAMP, TFR2, SI, SLC40A1, SLC39A4, INSR, TPMT, B3GLCT, PTF1A, AKT2, SLC2A2, HADH, PCBD1, SLC46A1, TMEM165, COG5, COG6, ALG11, COG4, NBAS, TRIM37, GNPAT, CD320, PGK1, ADAR, IFIH1, ZMPSTE24, MYH3, AMPD1, FBXL4, PRKAG2, CAV1, CNNM4, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, EBP, MAGT1, LAMP2, HCFC1, SEC23B, NEU1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, PRPS1, COL11A2, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, ATP13A2, MFSD8, FLNA, ASAH1, ALG13, EPM2A, FOLR1, SLC35A2, NHLRC1, DPM2, LAMA2, ANO10, KCNA1, KCNJ2, RYR1, CACNA1S, BSCL2, CASR, KCNJ11, GCH1, SCN4A, DYSF, COQ4, CAV3, FKRP, CLCN1, LMNA, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, SLC7A7, SERPINA1, PEX7, PPT1, PEX2, CTNS, FKTN, CLN8, CLN6, GPC3, SLC2A1, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, PNP, HPD, GNMT, MOGS, DPAGT1, DOLK, SUGCT, ARSB, APRT, AHCY, AGA, ADA, ABCD4, PDHX, SLC6A8, CPOX, PPOX, FECH, CLN3, TPP1, GLRX5, ASL, APTX, PMM2, MGAT2, SLC25A20, SLC22A5, ASS1, SLC3A1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CBS, L2HGDH, NAGS, SLC25A15, IVD, OXCT1, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFS1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, ISCU, CTSA, MPV17, OAT, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, LPIN1, HEXB, ALDH5A1, SUOX, GM2A, HEXA, TCN2, LMBRD1, MMADHC, XDH, ABCD1, PHKA1, TAZ, TIMM8A, PDHA1, OTC, AGPS, D2HGDH, ALG3, MPI, TYMP, ALG6, SLC35A1, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, ALG2, LDB3, MYOT, ANO5, CLCNKB, BSND, SLC12A3, UMOD, HNF4A, PDX1, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, GFM1, MPDU1, TK2, ACADSB, CTSD, POLG2, PNPLA2, SLC25A3, TUSC3, COG8, COG1, ACAD8, GYS1, RFT1, COQ8A, SUCLA2, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, TMEM126A, PHKG2, CAVIN1, IDH2, G6PC, PYGL, TAT, HMGCL, FAH, PHKA2, NFU1, SARS2, DHDDS, TMEM70, PDHB, ACSF3, BOLA3, DGUOK, DNM1L, AGK, LIAS, DDOST, DHODH, COQ6, PDSS1, PDSS2, COQ9, SMPD1, FH, OPA3, HADHA, MFN2, SLC25A13, ALAS2, NDUFAF2, RRM2B, FOXRED1, GCK, SLC25A4, POLG, DLD, HPRT1, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, GLB1, GNPTAB, PSAP, WFS1, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, SLC37A4, MTR, HNF1B, AMN, COL2A1, PPARG, MMACHC, HNF1A, ADSL, GAA, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATP7B, BTD, HLCS, ARG1, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1, MTHFR, HFE Specificity 1 % Genes 50 %
Vitreoretinopathy Panel. By Blueprint Genetics in Finland. CAPN5, P3H2, ATOH7, VCAN, COL18A1, CTC1, KIF11, ZNF408, CTNNB1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP , (...) View the complete list with 3 more genes Panel GTR000552765 complete gene list CAPN5, P3H2, ATOH7, VCAN, COL18A1, CTC1, KIF11, ZNF408, CTNNB1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, NR2E3, FZD4, TSPAN12, RS1, KCNJ13, NDP, COL2A1, LRP5, BEST1 Specificity 5 % Genes 50 %
Cataract Panel. By Blueprint Genetics in Finland. ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3 , (...) View the complete list with 49 more genes Panel GTR000552775 complete gene list ADAMTS18, CRYGS, PXDN, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, CRYAA, LIM2, TDRD7, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, ADAMTSL4, ERCC5, COL18A1, WRN, ERCC8, CRYBA4, VSX2, FTL, GJA1, CTDP1, ERCC6, FOXE3, MAF, TFAP2A, MYH9, COL11A1, ERCC2, RAB3GAP1, COL4A1, SIL1, SLC33A1, NF2, FZD4, CYP27A1, GALK1, GALE, GALT, BCOR, GJA3, FYCO1, TMEM70, ALDH18A1, AGK, OPA3, CRYAB, NHS, NDP, OCRL, WFS1, ABCB6, PITX3, PAX6, COL2A1, EYA1, RECQL4 Specificity 2 % Genes 50 %
Cleft Lip/Palate and Associated Syndromes Panel. By Blueprint Genetics in Finland. TBX22, TGDS, MSX1, GRHL3, FOXE1, IRF6, SATB2, KDM6A, TP63, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, KMT2D, COL2A1 Specificity 7 % Genes 50 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel. By Insight Medical Genetics in United States. PAM16, INPPL1, ROR2, ESCO2, DYNC2H1, EVC2, EVC, IFT80, SERPINH1, WNT1, BMP1, TMEM38B, SOX9, TWIST1, COL11A1, FGFR1, SLC26A2, PEX7, FGFR2, FGFR3 , (...) View the complete list with 13 more genes Panel GTR000518899 complete gene list PAM16, INPPL1, ROR2, ESCO2, DYNC2H1, EVC2, EVC, IFT80, SERPINH1, WNT1, BMP1, TMEM38B, SOX9, TWIST1, COL11A1, FGFR1, SLC26A2, PEX7, FGFR2, FGFR3, PPIB, AGPS, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, COL2A1, IFITM5, FKBP10, ALPL Specificity 4 % Genes 50 %
Achondrogenesis type 2. By Bioarray in Spain. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome type I. By Bioarray in Spain. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita. By Bioarray in Spain. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita. By Bioarray in Spain. COL2A1 Specificity 100 % Genes 50 %
Exome. By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil. IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...) View the complete list with 46 more genes Panel GTR000530118 complete gene list IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3, ATXN8OS, TBP, ATXN2, SERPINA1, CDH1, TSC1, ATXN1, PTPN11, NRAS, DMPK, MAP2K1, KRAS, IDS, DMD, CHD7, CDKL5, BRAF, CFTR, FGFR3, COL5A2, COL5A1, MEN1, FXN, ABCD1, FBN1, MECP2, AFG3L2, RET, TGFB1, PRKCG, COL3A1, COL1A2, COL1A1, COL2A1, ALPL, TP53, PTEN, MUTYH, APC, UBE3A, TTR, HFE, HTT, FMR1, BRCA2, BRCA1 Specificity 2 % Genes 50 %
STICKLER SYNDROME (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. COL11A2, COL11A1, COL2A1 Specificity 34 % Genes 50 %
ACHONDROGENESIS TYPE 2. By Laboratorio de Genetica Clinica SL in Spain. COL2A1 Specificity 100 % Genes 50 %
STICKLER SYNDROME: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. MATN3, COMP, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 15 % Genes 50 %
KNIEST DYSPLASIA. By Laboratorio de Genetica Clinica SL in Spain. COL2A1 Specificity 100 % Genes 50 %
SPONDYLOEPIPHYSEAL DYSPLASIA. By Laboratorio de Genetica Clinica SL in Spain. COL2A1 Specificity 100 % Genes 50 %
Alport & Stickler syndrome hearing loss panel. By LifeLabs Genetics in Canada. EDNRB, COL11A2, COL9A2, COL9A1, COL4A5, COL4A4, COL4A3, COL2A1 Specificity 13 % Genes 50 %
Stickler Syndrome panel. By LifeLabs Genetics in Canada. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Stickler Syndrome panel. By LifeLabs Genetics in Canada. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis, type II. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Avascular necrosis of the head of femur. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Czech dysplasia metatarsal type. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Epiphyseal dysplasia, multiple, with myopia and conductive deafness. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Kniest dysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Coxa plana. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Osteoarthritis with mild chondrodysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Otospondylomegaepiphyseal dysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic lethal skeletal dysplasia Torrance type. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Osteoarthritis with mild chondrodysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia Strudwick type. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia, stanescu type. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I, nonsyndromic ocular. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Vitreoretinopathy with phalangeal epiphyseal dysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis Type 2, Sequencing COL2A1 Gene. By Reference Laboratory Genetics in Spain. COL2A1 Specificity 100 % Genes 50 %
Stickler Syndrome Type I , Deletions-Duplications (MLPA) COL2A1 Gene. By Reference Laboratory Genetics in Spain. COL2A1 Specificity 100 % Genes 50 %
Kniest Dysplasia, Massive Sequencing (NGS) COL2A1 Gene. By Reference Laboratory Genetics in Spain. COL2A1 Specificity 100 % Genes 50 %
Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. MATN3, COMP, COL9A2, COL9A3, COL9A1, SLC26A2, COL2A1 Specificity 15 % Genes 50 %
Stickler Syndrome , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. COL11A2, COL11A1, COL9A2, COL9A1, COL2A1 Specificity 20 % Genes 50 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes. By Reference Laboratory Genetics in Spain. ADAMTS10, TGFB3, EFEMP2, ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2 , (...) View the complete list with 19 more genes Panel GTR000559846 complete gene list ADAMTS10, TGFB3, EFEMP2, ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A2, COL11A1, COL9A2, COL9A1, ADAMTS2, SMAD4, PLOD1, COL5A2, COL5A1, CBS, SLC39A13, FBN1, ATP6V0A2, ELN, COL3A1, COL1A2, COL1A1, COL2A1, FBLN5 Specificity 3 % Genes 50 %
Stickler Syndrome Type I , Sequencing COL2A1 Gene. By Reference Laboratory Genetics in Spain. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. TRIP11, COL11A2, COL11A1, SLC26A2, COL2A1 Specificity 20 % Genes 50 %

Alternate names

Avascular Necrosis Of Femoral Head, Primary, 2; Anfh2 Is also known as ;familial osteonecrosis of the femoral head.

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