Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies

Clinical Use

Use

Establishes a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy. Identifies variants within 83 genes associated with these conditions, supporting diagnostic and predictive testing for at-risk family members. Detection of disease-causing variants assists with prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.

Special Instructions

Not provided.

Limitations

Next-generation sequencing may not detect all genomic variants. Some regions may not be evaluated due to technical limitations, such as homology and high GC content. The test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp; larger events may be less reliably detected. It is not designed to detect low levels of mosaicism, differentiate between somatic and germline variants, or detect balanced structural rearrangements. If donor DNA is present due to a recent transfusion or transplant, results may be inaccurate.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (83 genes)

ABHD5ACAD9ACADMACADSACADVLAGKAGLALDOAANO5ATP2A1CASQ1CAVIN1CHCHD10COQ2COQ4COQ6COQ8ACOQ9CPT2CTDP1DGUOKDMDDNA2DYSFENO3ETFAETFBETFDHFBXL4FDX2FKRPFKTNFLAD1GAAGBE1GFERGYG1GYS1HADHAHADHBISCULAMP2LDHALPIN1MGME1MRPS25MSTO1OPA1PDSS1PDSS2PFKMPGAM2PGK1PGM1PHKA1PNPLA2PNPLA8POLGPOLG2PRKAG2PUS1PYGMRBCK1RNASEH1RRM2BRYR1SCN4ASDHASLC22A5SLC25A20SLC25A4SLC25A42SUCLA2SUCLG1TANGO2TK2TMEM65TRIM32TSFMTTC19TWNKVMA21YARS2