Title Image

Blog

Home  /  Neurology   /  Metabolic myopathies: gene panel

Metabolic myopathies: gene panel

Speciality(ies) / Other Speciality(ies)

Neurology

Metabolic diseases

Methodology

NGS, with CNVs analysis (optional)

SNS Code

34900

OMIM

Gene Number

51

Test / Mutation List

ABHD5, ACAD9, ACADM, ACADVL, AGL, AHCY, ALDOA, AMPD1, CPT2, ECHS1, ENO3, ETFA, ETFB, ETFDH, FKRP, GAA, GBE1, GYG1, GYS1, GYS2, HADHA, HADHB, HSPB8, ISCA2, ISCU, KARS, LAMP2, LDHA, LPIN1, MPV17, MRM2, MTO1, NDUFB8, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, PRKAG2, PYGM, RBCK1, RYR1, SLC22A5, SLC25A1, SLC25A20, SUCLA2, TANGO2, TAZ, TK2, VMA21

TAT

4 to 5 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.