Invitae Rhabdomyolysis and Metabolic Myopathy Panel
Use
The Invitae Rhabdomyolysis and Metabolic Myopathy Panel analyzes genes associated with conditions such as rhabdomyolysis, metabolic myopathy, and mitochondrial disorders. Genetic testing can help confirm diagnoses, predict prognosis, and assist in genetic counseling. This panel is valuable for evaluating gene heterogeneity in these complex conditions, allowing clinicians to efficiently consider many potential genetic causes based on a single clinical indication.
Special Instructions
The panel includes full-gene sequencing and deletion/duplication analysis. Some genes may associate with unrelated conditions not included in the tested list. Panel testing allows for evaluations in cases of overlapping symptoms between rhabdomyolysis and metabolic myopathy.
Limitations
The test has >99% sensitivity and specificity for detecting single nucleotide variants and small indels. It may not detect structural rearrangements or variants in complex sequence architecture. Variants in promoter or non-coding regions may not be covered unless specified. In rare cases, anomalies such as mosaicism may affect results. Consult specific guidelines for excluded regions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)