- Patients with a confirmed or suspected diagnosis of MERRF disease
- Family members of an affected patient who are at risk for MERRF disease
Detection and Reference Range
Approximately 85-90% of patients with MERRF have mitochondrial mutations included in this panel. Over 95% of the 8344A>G and 8356T>C mutations, if present, will be detected. This assay will detect any mutation on this panel present at 15-20% heteroplasmy or greater.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Type: Muscle Biopsy
Specimen Requirements:1-2 mm in length or > 100 mg is acceptable.
Flash freeze sample upon collection using liquid nitrogen. If storage is required, store sample at -80o C or colder.
Specimen Collection and Shipping: Ship frozen sample on dry ice with overnight delivery.
- MELAS (QA)may be indicated for patients who also have strokes
- CPEO/KSS (QB) may be indicated for patients who also have progressive external ophthalmoplegia and retinopathy