Lab Information Manual

Laboratory:

Clinical Biochemistry

Test Name:

MITOCHONDRIAL DISORDER PANEL-MELAS (MT-TL1 GENE), MERRF (MT-TK GENE), NARP (MT-ATP6 GENE) - (B)

Test Code: MD

Clinical Information:

Testing done for confirmation of suspected mitochondrial disorder. Test requests limited to neurologist, metabolic specialist or geneticist. Asymptomatic testing available for patients with documented positive maternal family history. Testing is done as a panel of common mitochondrial point mutations known to cause MELAS, MERRF and NARP. Testing includes:
     MELAS      m. 3243A>G (MT-TL1 gene) - accounts for ~80% of MT-TL1-related MELAS
     MERRF     m. 8344A>G (MT-TK gene) - account for ~80% of MERRF
     NARP        m. 8993T>G and m. 8993 T>C (MT-ATP6 gene) - account for ~50% of NARP
All out-of-province testing subjected to final laboratory approval. For more information,
For MELAS see: http://www.ncbi.nlm.nih.gov/books/NBK1233/
For MERRF see: http://www.ncbi.nlm.nih.gov/books/NBK1520/
For NARP see: http://www.ncbi.nlm.nih.gov/books/NBK1173/

Collection Devices:

Preferred Device:	2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	6 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

Specimen Required:

Blood: 8.0 mL

Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature.

Referral:

Requisition:

_SH HSC Molecular Diagnostic Lab Test Requisition (R250-10-09)

Reference Values:

An interpretive report from the reference laboratory will be forwarded to the physician.

Availability:

Extracted DNA is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 10 to 12 weeks.