Genetic Test Details

Rhabdomyolysis and Metabolic Myopathies Panel

Test Information

Titre
Rhabdomyolysis and Metabolic Myopathies Panel
Catégorie
Neurogenetics
Sub Category
Neuromuscular Disease
Gene/Platform/Region List
ABHD5, ACAD9, ACADL, ACADM, ACADVL, AGL, ALDOA, ANO5, ATP2A1, ATP5F1D, C1QBP, CACNA1S, CAPN3, CASQ1, CAV3, CHKB, CPT1A, CPT2, CRPPA, DAG1, DGUOK, DMD, DNAJB6, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FDX2, FHL1, FKRP, FKTN, FLAD1, GAA, GATM, GBE1, GMPPB, GYG1, GYS1, HADHA, HADHB, ISCU, ITGA7, LAMA2, LAMP2, LARGE1, LDHA, LPIN1, MGME1, MLIP, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, PNPLA8, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RYR1, SCN4A, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC22A5, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, STAC3, SUCLA2, TAFAZZIN, TANGO2, TCAP, TK2, TNPO3, TRIM32, TRMT5, TSFM, TYMP, YARS2
Test type
Gene Panel
Samples Accepted
Blood, DNA
Indications
Carrier Cascade Testing, Diagnostics
Test Methodology
Sequencing
Disease/Condition
Rhabdomyolysis, metabolic myopathies

Dernière Mise à Jour: 05 septembre 2025