Metabolic myopathies and Rhabdomyolysis: gene panel
Speciality(ies) / Other Speciality(ies)
Neurology
Metabolic Diseases
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
64
Test / Mutation List
ABHD5, ACAD9, ACADM, ACADVL, AGL, AHCY, ALDOA, AMPD1, ANO5, CACNA1S, CAV3, CPT2, DMD, DYSF, ECHS1, ENO3, ETFA, ETFB, ETFDH, FKRP, FKTN, GAA, GBE1, GYG1, GYS1, GYS2, HADHA, HADHB, HSPB8, ISCA2, ISCU, KARS, LAMP2, LDHA, LPIN1, MPV17, MRM2, MTO1, NDUFB8, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, POLG, POLG2, PRKAG2, PYGM, RBCK1, RRM2B, RYR1, SIL1, SLC22A5, SLC25A1, SLC25A20, SUCLA2, TANGO2, TAZ, TK2, TSFM, TYMP, VMA21
TAT
2 to 3 months
Sample Type
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.