Myopathy, Centronuclear, 1; Cnm1

Description

Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting (Bitoun et al., 2005). The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Genetic Heterogeneity of Centronuclear MyopathyCentronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX ), caused by mutation in the MTM1 gene (OMIM ) on chromosome Xq28; CNM2 (OMIM ), caused by mutation in the BIN1 gene (OMIM ) on chromosome 2q14; CNM3 (OMIM ), caused by mutation in the MYF6 gene (OMIM ) on chromosome 12q21; CNM4 (OMIM ), caused by mutation in the CCDC78 gene (OMIM ) on chromosome 16p13; CNM5 (OMIM ), caused by mutation in the SPEG gene (OMIM ) on chromosome 2q35; and CNM6 (OMIM ), caused by mutation in the ZAK gene (OMIM ) on chromosome 2q31.In addition, some patients with mutation in the RYR1 gene (OMIM ) have findings of centronuclear myopathy on skeletal muscle biopsy (see {255320}).

Clinical Features

Top most frequent phenotypes and symptoms related to Myopathy, Centronuclear, 1; Cnm1

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Ptosis
  • Cryptorchidism
  • Muscle weakness
  • Myopathy
  • Flexion contracture
  • Skeletal muscle atrophy
And another 46 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Myopathy, Centronuclear, 1; Cnm1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
4 %
Genes
100 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)

View the complete list with 59 more genes
Specificity
6 %
Genes
80 %
MTMR14. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MTMR14
Specificity
100 %
Genes
20 %
Centronuclear myopathy AD (sequence analysis of MTMR14 gene).

By CGC Genetics in Portugal.

MTMR14
Specificity
100 %
Genes
20 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
28 %
Genes
100 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
28 %
Genes
100 %
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy.

By MGZ Medical Genetics Center in Germany.

NEB, DNM2, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, KBTBD13, CFL2, TPM2, TNNT1, MTM1, BIN1, MTMR14
Specificity
27 %
Genes
80 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
3 %
Genes
100 %
Centronuclear myopathy type 1.

By Centogene AG - the Rare Disease Company in Germany.

MTMR14
Specificity
100 %
Genes
20 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)

View the complete list with 53 more genes
Specificity
7 %
Genes
100 %
Congenital Myopathy and Distal Myopathy NGS panel.

By Asper Biogene Asper Biogene LLC in Estonia.

GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON , (...)

View the complete list with 21 more genes
Specificity
10 %
Genes
80 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 58 more genes
Specificity
6 %
Genes
80 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 57 more genes
Specificity
6 %
Genes
80 %
MTMR14.

By Fulgent Genetics Fulgent Genetics in United States.

MTMR14
Specificity
100 %
Genes
20 %
Autosomal dominant centronuclear myopathy.

By Bioarray in Spain.

MTMR14
Specificity
100 %
Genes
20 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
4 %
Genes
80 %
Congenital Muscular Myopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

NEB, DNM2, MYH7, SELENON, RYR1, TPM3, ACTA1, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6
Specificity
27 %
Genes
80 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
4 %
Genes
80 %
Congenital Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
80 %
Congenital Myopathy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
80 %
Centronuclear Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

DNM2, RYR1, CCDC78, MTM1, BIN1, MYF6, SPEG
Specificity
58 %
Genes
80 %
Myopathy, centronuclear 3 (sequence analysis of MYF6 gene).

By CGC Genetics in Portugal.

MYF6
Specificity
100 %
Genes
20 %
Centronuclear Myopathy-3, Autosomal Dominant via MYF6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MYF6
Specificity
100 %
Genes
20 %
Centronuclear myopathy type 3.

By Centogene AG - the Rare Disease Company in Germany.

MYF6
Specificity
100 %
Genes
20 %
MYF6.

By Fulgent Genetics Fulgent Genetics in United States.

MYF6
Specificity
100 %
Genes
20 %
Centronuclear Myopathy Type 3 , Sequencing MYF6 Gene.

By Reference Laboratory Genetics in Spain.

MYF6
Specificity
100 %
Genes
20 %
Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

DNM2, RYR1, MTM1, BIN1, MYF6
Specificity
80 %
Genes
80 %
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

TRIM32, NEB, DNM2, TTN, MYH7, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1 , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
60 %
BIN1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

BIN1
Specificity
100 %
Genes
20 %
BIN1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

BIN1
Specificity
100 %
Genes
20 %
BIN1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

BIN1
Specificity
100 %
Genes
20 %
Centronuclear myopathy, AR (sequence analysis of BIN1 gene).

By CGC Genetics in Portugal.

BIN1
Specificity
100 %
Genes
20 %
Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene.

By PreventionGenetics PreventionGenetics in United States.

BIN1
Specificity
100 %
Genes
20 %
Congenital Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

NEB, DNM2, LMNA, TTN, KLHL9, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)

View the complete list with 10 more genes
Specificity
10 %
Genes
60 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)

View the complete list with 104 more genes
Specificity
3 %
Genes
60 %
BIN1.

By MGZ Medical Genetics Center in Germany.

BIN1
Specificity
100 %
Genes
20 %
Newborn: “Floppy Infant “.

By MGZ Medical Genetics Center in Germany.

GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...)

View the complete list with 53 more genes
Specificity
5 %
Genes
60 %
Myopathy, centronuclear.

By Centogene AG - the Rare Disease Company in Germany.

BIN1
Specificity
100 %
Genes
20 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
3 %
Genes
60 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
3 %
Genes
60 %
Invitae Congenital Myopathy Panel.

By Invitae in United States.

NEB, DNM2, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, COL6A2, COL6A3 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
60 %
Invitae Centronuclear Myopathy Panel.

By Invitae in United States.

DNM2, TTN, RYR1, CCDC78, MTM1, BIN1
Specificity
50 %
Genes
60 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)

View the complete list with 30 more genes
Specificity
6 %
Genes
60 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
20 %
BIN1.

By Fulgent Genetics Fulgent Genetics in United States.

BIN1
Specificity
100 %
Genes
20 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
20 %
Autosomal recessive centronuclear myopathy type 2.

By Bioarray in Spain.

BIN1
Specificity
100 %
Genes
20 %
Autosomal Recessive Centronuclear Myopathy , Sequencing BIN1 Gene.

By Reference Laboratory Genetics in Spain.

BIN1
Specificity
100 %
Genes
20 %
Malignant Hyperthermia Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
20 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
20 %
Congenital Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
5 %
Genes
20 %
RYR1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

RYR1
Specificity
100 %
Genes
20 %
Congenital Muscular Dystrophy Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

GAA, DPM3, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
20 %
Congenital Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

LMNA, MYH7, SELENON, RYR1, KLHL40, SYNE1, TMEM43, SYNE2, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
8 %
Genes
20 %
Congenital Myopathy with Prominent Contractures Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

LMNA, MYH7, SELENON, RYR1, KLHL40, SYNE1, TMEM43, SYNE2, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
8 %
Genes
20 %
Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

LMNA, MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
15 %
Genes
20 %
Multiminicore Disease Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SELENON, RYR1
Specificity
50 %
Genes
20 %
Malignant hyperthermia susceptibility 1.

By Human Genetics Ruhr University in Germany.

RYR1
Specificity
100 %
Genes
20 %
Central core disease.

By Human Genetics Ruhr University in Germany.

RYR1
Specificity
100 %
Genes
20 %
Rhabdomyolysis.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AGL, ACADVL, ALDOA, GAA, CPT2, HADHA, PGM1, LDHA, ENO3, GYS1, HADHB, PHKA1, LPIN1, PGAM2, ISCU, PFKM, PYGM, GBE1, ETFB, ETFA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
20 %
RYR1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
20 %
ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1
Specificity
20 %
Genes
20 %
RYR1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
20 %
RYR1. Sequencing of the exons 2, 5, 9, 11, 12, 14, 17, 39, 40, 44, 45, 46, 71, 100, 101 and 102.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
20 %
RYR1. NextGeneDx.Sequencing by NGS of the exons 1-17, 39-48 and 90-104.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
20 %
SEPN1, RYR1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SELENON, RYR1
Specificity
50 %
Genes
20 %
RYR1. Sequencing of the exons 1-17, 39-48 and 90-104.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
20 %
RYR1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
20 %
Central core myopathy (sequence analysis of RYR1 gene).

By CGC Genetics in Portugal.

RYR1
Specificity
100 %
Genes
20 %
Malignant hyperthermia susceptibility (sequence analysis of RYR1 gene).

By CGC Genetics in Portugal.

RYR1
Specificity
100 %
Genes
20 %
Central core myopathy (deletion/duplication analysis on RYR1 gene).

By CGC Genetics in Portugal.

RYR1
Specificity
100 %
Genes
20 %
RYR1-Related Congenital Myopathies via the RYR1 Gene.

By PreventionGenetics PreventionGenetics in United States.

RYR1
Specificity
100 %
Genes
20 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
20 %
Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CACNA1S, RYR1, STAC3
Specificity
34 %
Genes
20 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADM, ACADS, AGL, ACADVL, ALDOA, TWNK, GAA, AMACR, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, COQ9, PDSS2, PDSS1, PGM1, LDHA , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
20 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
20 %
Malignant Hyperthermia panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

ACADM, ACADS, AGL, ACADVL, GAA, AMACR, CPT2, HADHA, PNPLA2, HADHB, ABHD5, LPIN1, ISCU, PFKM, PYGM, ETFB, ETFA, ETFDH, SLC22A5, DMD , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
20 %
Malignant Hyperthermia- RYR1, CACNA1S.

By MGZ Medical Genetics Center in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
RYR1.

By MGZ Medical Genetics Center in Germany.

RYR1
Specificity
100 %
Genes
20 %
Muscle Pain - fluctuating CK - Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

TTR, ACADM, ACADS, ACADVL, GAA, CPT2, HADHA, HADHB, LPIN1, PYGM, ETFB, ETFA, ETFDH, SEPT9, DMD, DNM2, CLCN1, FKRP, DYSF, SCN4A , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
40 %
Malignant Hyperthermia.

By MGZ Medical Genetics Center in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
Myopathy – Rigid Spine.

By MGZ Medical Genetics Center in Germany.

GAA, LMNA, FHL1, SELENON, RYR1, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
10 %
Genes
20 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
40 %
Muscle Disease with Contractures and/or Rigid Spine.

By MGZ Medical Genetics Center in Germany.

GAA, NEB, CAPN3, RAPSN, DNM2, LMNA, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, KBTBD13, CFL2, TPM2, TNNT1, SYNE1, TMEM43, SYNE2, EMD , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
40 %
Periodic Palsy.

By MGZ Medical Genetics Center in Germany.

SCN4A, CACNA1S, RYR1, KCNJ2, KCNE3, KCNJ12
Specificity
17 %
Genes
20 %
Muscle Disease with Ptosis / External Ophthalmoplegia.

By MGZ Medical Genetics Center in Germany.

TWNK, TUBB3, POLG, SLC25A4, RRM2B, POLG2, ALG2, CHAT, KIF21A, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, RYR1, MTM1, COLQ, MUSK, GFPT1, AGRN , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
40 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)

View the complete list with 70 more genes
Specificity
3 %
Genes
40 %
Malignant Hyperthermia Susceptibility.

By MGZ Medical Genetics Center in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
Minicore myopathy / Central core disease.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

RYR1
Specificity
100 %
Genes
20 %
Minicore myopathy with external ophthalmoplegia.

By Centogene AG - the Rare Disease Company in Germany.

RYR1
Specificity
100 %
Genes
20 %
Malignant hyperthermia.

By Centogene AG - the Rare Disease Company in Germany.

RYR1
Specificity
100 %
Genes
20 %
Malignant hyperthermia panel.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
Central core disease of muscle.

By Centogene AG - the Rare Disease Company in Germany.

RYR1
Specificity
100 %
Genes
20 %
Malignant Hyperthermia Panel.

By CeGaT GmbH in Germany.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
Malignant Hyperthermia, RYR1.

By GGA - Galil Genetic Analysis in Israel.

RYR1
Specificity
100 %
Genes
20 %
Metabolic Myopathy and Rhabdomyolysis.

By Asper Biogene Asper Biogene LLC in Estonia.

ACAD9, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
20 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
20 %
Familial hypercholesterolemia Extended Panel.

By Health in Code in Spain.

CPT2, COQ2, PYGM, LDLR, LIPA, APOE, RYR1, ABCB1, AMPD1, ABCG5, ABCG8, CYP2D6, NPC1L1, PCSK9, LDLRAP1, APOB, SLCO1B1, CYP3A4, CYP3A5, SLC22A8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
20 %
RYR1-Related Multiminicore Disease.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

RYR1
Specificity
100 %
Genes
20 %
RYR1-Related Malignant Hyperthermia Susceptibility.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

RYR1
Specificity
100 %
Genes
20 %
RYR1-Related Congenital Fiber-Type Disproportion.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

RYR1
Specificity
100 %
Genes
20 %
Central core disease.

By Praxis fuer Humangenetik Wien in Austria.

RYR1
Specificity
100 %
Genes
20 %
Malignant hyperthermia susceptibility 1.

By Praxis fuer Humangenetik Wien in Austria.

RYR1
Specificity
100 %
Genes
20 %
Central core disease.

By MedGene in Slovakia.

RYR1
Specificity
100 %
Genes
20 %
Malignant hyperthermia susceptibility 1.

By MedGene in Slovakia.

RYR1
Specificity
100 %
Genes
20 %
Invitae Malignant Hyperthermia Susceptibility Panel.

By Invitae in United States.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
Invitae Multiminicore Disease Panel.

By Invitae in United States.

SELENON, RYR1
Specificity
50 %
Genes
20 %
Invitae Central Core Disease Test.

By Invitae in United States.

RYR1
Specificity
100 %
Genes
20 %
Invitae Congenital Fiber-Type Disproportion Panel.

By Invitae in United States.

LMNA, MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
15 %
Genes
20 %
Central core congenital myopathy: RYR1 gene screening.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
20 %
Malignant hyperthermia: RYR1 gene sequence analysis (exons 2, 6-18).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
20 %
Malignant hyperthermia: RYR1 gene sequence analysis (exons 39-48).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
20 %
Malignant hyperthermia: RYR1 gene sequence analysis (exons 85-104).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
20 %
Central core disease: RYR1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
20 %
Hipertermia maligna: Secuenciación gen RYR1.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
20 %
CONGENITAL MYOPATHY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
17 %
Genes
20 %
RYR1-Related Disorders: RYR1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RYR1
Specificity
100 %
Genes
20 %
RYR1-Related Disorders: RYR1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RYR1
Specificity
100 %
Genes
20 %
Congenital Muscular Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
20 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
20 %
Congenital Muscular Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
20 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
20 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
20 %
Congenital Fiber Type Disproportion NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
20 %
Genes
20 %
RYR1.

By Fulgent Genetics Fulgent Genetics in United States.

RYR1
Specificity
100 %
Genes
20 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
20 %
Metabolic Myopathy and Rhabdomyolysis Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, COQ8A, GYS1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
20 %
Malignant hyperthermia.

By Bioarray in Spain.

RYR1
Specificity
100 %
Genes
20 %
Central core disease.

By Bioarray in Spain.

RYR1
Specificity
100 %
Genes
20 %
MALIGNANT HYPERTHERMIASUSCEPTIBILITY TYPE 1 (KING SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

RYR1
Specificity
100 %
Genes
20 %
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
17 %
Genes
20 %
CENTRAL CORE MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

RYR1
Specificity
100 %
Genes
20 %
MYOPATHY CONGENITAL MULTICORE WITH EXTERNAL OPHTALMOPLEGIA (MULTIMINICORE).

By Laboratorio de Genetica Clinica SL in Spain.

SELENON, RYR1
Specificity
50 %
Genes
20 %
Congenital Central Core Myopathy , Screening Mutations RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
20 %
Malignant Hyperthermia Type 1 , Sequencing Exons (85-104) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
20 %
Malignant Hyperthermia Type 1 , Sequencing Exons (39-48) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
20 %
Malignant Hyperthermia Type 1 , Sequencing Exons (2, 6-18) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
20 %
Congenital Central Core Myopathy , Massive Sequencing (NGS) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
20 %
Congenital Myopathy , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
17 %
Genes
20 %
Congenital Fiber-Type Disproportion Myopathy , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MYH7, SELENON, RYR1, TPM3, ACTA1, TPM2
Specificity
17 %
Genes
20 %
Malignant Hyperthermia , Panel Massive Sequencing (NGS) RYR1 and CACNA1S Genes.

By Reference Laboratory Genetics in Spain.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
Malignant Hyperthermia Type 1 , Massive Sequencing (NGS) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
20 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

GAA, STXBP1, SLC25A22, GBE1, ARX, CDKL5, DMPK, PCDH19, CHRNE, SCN1A, CLCN1, SCN4A, CACNA1A, ATP2A1, CACNA1S, RYR1, CHRNA1, CHRND, CHRNB1, CHRNB2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
20 %
Congenital Central Core Myopathy , Panel Massive Sequencing (NGS) RYR1, MYH7, SELENON, TPM3 Genes.

By Reference Laboratory Genetics in Spain.

MYH7, SELENON, RYR1, TPM3
Specificity
25 %
Genes
20 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
40 %
Multiminicore Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SELENON, RYR1
Specificity
50 %
Genes
20 %
Malignant Hyperthermia Susceptibility: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CACNA1S, RYR1
Specificity
50 %
Genes
20 %
CMT Advanced Evaluation - Dominant.

By Athena Diagnostics Inc in United States.

GARS, MFN2, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2
Specificity
8 %
Genes
20 %
CMT Advanced Evaluation - Dominant, Demyelinating.

By Athena Diagnostics Inc in United States.

MPZ, PMP22, LITAF, EGR2, YARS, DNM2
Specificity
17 %
Genes
20 %
CMT Advanced Evaluation - Dominant, Axonal.

By Athena Diagnostics Inc in United States.

GARS, MFN2, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA
Specificity
10 %
Genes
20 %
DNM2 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

DNM2
Specificity
100 %
Genes
20 %
CMT Advanced Evaluation - Comprehensive.

By Athena Diagnostics Inc in United States.

GARS, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
20 %
CMT Advanced Evaluation - Axonal.

By Athena Diagnostics Inc in United States.

GARS, MFN2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, GJB1
Specificity
8 %
Genes
20 %
CMT Advanced Evaluation - Demyelinating.

By Athena Diagnostics Inc in United States.

NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, LITAF, EGR2, YARS, DNM2, GJB1
Specificity
7 %
Genes
20 %
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

GNE, CRYAB, VCP, NEB, DNM2, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3
Specificity
6 %
Genes
20 %
CMT Advanced Evaluation - Nonprevalent.

By Athena Diagnostics Inc in United States.

GARS, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
20 %
CMT Advanced Evaluation - Nonprevalent Demyelinating.

By Athena Diagnostics Inc in United States.

NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, PMP22, LITAF, EGR2, YARS, DNM2, GJB1
Specificity
8 %
Genes
20 %
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

FKTN, POMGNT1, DNM2, LMNA, FKRP, FHL1, SELENON, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
20 %
CMT Advanced Evaluation - Nonprevalent Axonal.

By Athena Diagnostics Inc in United States.

GARS, GDAP1, TRPV4, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, GJB1
Specificity
10 %
Genes
20 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
20 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
20 %
Charcot-Marie-Tooth Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GARS, KIF1B, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
20 %
DNM2 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

DNM2
Specificity
100 %
Genes
20 %
DNM2 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

DNM2
Specificity
100 %
Genes
20 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
20 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
20 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
20 %
Charcot-Marie-Tooth.

By Human Genetics University Hospital Bern in Switzerland.

GARS, SEPT9, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, NEFL, LITAF, RAB7A, EGR2, YARS, DNM2, GJB1, BSCL2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
20 %
DNM2, GARS, GDAP1, GJB1, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GARS, MFN2, PRX, MTMR2, GDAP1, MPZ, PMP22, NEFL, DNM2, GJB1
Specificity
10 %
Genes
20 %
DNM2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DNM2
Specificity
100 %
Genes
20 %
DNM2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DNM2
Specificity
100 %
Genes
20 %
Centronuclear myopathy, AD (sequence analysis of DNM2 gene).

By CGC Genetics in Portugal.

DNM2
Specificity
100 %
Genes
20 %
Charcot-Marie-Tooth disease type DIB and 2M (CMTDIB, CMT2M, sequence analysis of DNM2 gene).

By CGC Genetics in Portugal.

DNM2
Specificity
100 %
Genes
20 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
20 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes).

By CGC Genetics in Portugal.

C12orf65, GARS, KIF1B, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics in Portugal.

CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, NEFL, LITAF, EGR2, YARS, DNM2, GJB1, INF2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
20 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
20 %
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, DNM2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
20 %
Dynamin-2 Related Disorders via the DNM2 Gene.

By PreventionGenetics PreventionGenetics in United States.

DNM2
Specificity
100 %
Genes
20 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
20 %
Atrial fibrillation Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
20 %
Atrial fibrillation Comprehensive test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
20 %
Atrial fibrillation NGS test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
20 %
Congenital contracture syndrome extended NGS panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, TPM2, MUSK, CHRNA1, CHRND, CHRNG, NALCN, FBN2, GLE1, TNNI2, NEK9, TNNT3, MYH3, PIEZO2, GLDN, ADGRG6, ADCY6 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Congenital contracture syndrome extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, TPM2, MUSK, CHRNA1, CHRND, CHRNG, NALCN, FBN2, GLE1, TNNI2, NEK9, TNNT3, MYH3, PIEZO2, GLDN, ADGRG6, ADCY6 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Congenital contracture syndrome extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, TPM2, MUSK, CHRNA1, CHRND, CHRNG, NALCN, FBN2, GLE1, TNNI2, NEK9, TNNT3, MYH3, PIEZO2, GLDN, ADGRG6, ADCY6 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Charcot-Marie-Tooth disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Charcot-Marie-Tooth disease NGS panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Charcot-Marie-Tooth disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
20 %
Distal Myopathy NGS panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
20 %
Distal Myopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
20 %
Distal Myopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
20 %
Lethal congenital contracture syndrome and related disorders Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, MUSK, CHRNA1, CHRND, CHRNG, GLE1, NEK9, GLDN, ADGRG6, ADCY6, CNTNAP1, ZBTB42, MYBPC1, ZMPSTE24, PIP5K1C, ERBB3, VPS33B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
20 %
Lethal congenital contracture syndrome and related disorders NGS Panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, MUSK, CHRNA1, CHRND, CHRNG, GLE1, NEK9, GLDN, ADGRG6, ADCY6, CNTNAP1, ZBTB42, MYBPC1, ZMPSTE24, PIP5K1C, ERBB3, VPS33B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
20 %
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, MUSK, CHRNA1, CHRND, CHRNG, GLE1, NEK9, GLDN, ADGRG6, ADCY6, CNTNAP1, ZBTB42, MYBPC1, ZMPSTE24, PIP5K1C, ERBB3, VPS33B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
20 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
20 %
Centronuclear Myopathy 1.

By MGZ Medical Genetics Center in Germany.

DNM2
Specificity
100 %
Genes
20 %
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy.

By MGZ Medical Genetics Center in Germany.

DNM2
Specificity
100 %
Genes
20 %
Centronuclear Myopathy 1.

By FirmaLab in United States.

DNM2
Specificity
100 %
Genes
20 %
Distal Myopathy Panel.

By FirmaLab in United States.

GNE, NEB, DNM2, CAV3, DYSF, TTN, MYH7, ANO5, MYOT, LDB3, MATR3
Specificity
10 %
Genes
20 %
Charcot Marie Tooth Type 2 Panel.

By FirmaLab in United States.

GARS, KIF1B, MFN2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, AARS, MED25
Specificity
7 %
Genes
20 %
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy.

By Bioscientia GmbH Center for Human Genetics in Germany.

DNM2
Specificity
100 %
Genes
20 %
Myopathy, centronuclear.

By Centogene AG - the Rare Disease Company in Germany.

DNM2
Specificity
100 %
Genes
20 %
DI-CMTB.

By Centogene AG - the Rare Disease Company in Germany.

DNM2
Specificity
100 %
Genes
20 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
20 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel.

By CeGaT GmbH in Germany.

FKBP10, PLOD2, ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, SCN4A, LAMB2, TPM2, SYNE1, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
20 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
20 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
20 %
DNM2 - Select Exon Sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

DNM2
Specificity
100 %
Genes
20 %
DNM2.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DNM2
Specificity
100 %
Genes
20 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
20 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
20 %
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel.

By Invitae in United States.

GARS, MFN2, HARS, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
20 %
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel.

By Invitae in United States.

GARS, MFN2, HARS, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, INF2, BSCL2, DYNC1H1, MORC2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
20 %
CHARCOT- MARIE TOOTH.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
20 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
20 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
20 %
Hereditary Neuropathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GARS, KIF1B, MFN2, SPTLC2, GLA, NDRG1, SBF2, PRX, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
20 %
Charcot Marie Tooth Disease Extended NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
20 %
DNM2.

By Fulgent Genetics Fulgent Genetics in United States.

DNM2
Specificity
100 %
Genes
20 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
20 %
Dynamin 2.

By Bioarray in Spain.

DNM2
Specificity
100 %
Genes
20 %
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B.

By Bioarray in Spain.

DNM2
Specificity
100 %
Genes
20 %
Autosomal dominant centronuclear myopathy type 1.

By Bioarray in Spain.

DNM2
Specificity
100 %
Genes
20 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
20 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
20 %
CHARCOT-MARIE-TOOTH : NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

GARS, KIF1B, MFN2, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
20 %
Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel.

By LifeLabs Genetics in Canada.

GARS, KIF1B, MFN2, SLC12A6, GDAP1, TRPV4, MPZ, NEFL, HSPB8, HSPB1, YARS, DNM2, LMNA, DYNC1H1, AARS, MED25, GAN, ARHGEF10
Specificity
6 %
Genes
20 %
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease, Sequencing DNM2 Gene.

By Reference Laboratory Genetics in Spain.

DNM2
Specificity
100 %
Genes
20 %
Autosomal Dominant Centronuclear Myopathy , Sequencing DNM2 Gene.

By Reference Laboratory Genetics in Spain.

DNM2
Specificity
100 %
Genes
20 %
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

GARS, KIF1B, MFN2, PHYH, PEX7, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes.

By Reference Laboratory Genetics in Spain.

GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
20 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
20 %
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

GARS, KIF1B, MFN2, HARS, NAGLU, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, DNM2, LMNA, DYNC1H1, IGHMBP2, MME, LRSAM1, AARS, MED25
Specificity
5 %
Genes
20 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
20 %

Alternate names

Myopathy, Centronuclear, 1; Cnm1 Is also known as myopathy, centronuclear, autosomal dominant, myotubular myopathy, autosomal dominant;ad-cnm.



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