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Laboratory: Genomics
Test Name:
Test Code: MD
Clinical Information:
Testing done for confirmation of clinical diagnosis in patients with painless bilateral subacute visual failure with either no family history or a family history consistent with mitochondrial pattern of inheritance (limited to 3 common mitochondrial mutations).  Testing request limited to ophthalmologists and geneticists.  Asymptomatic testing available for patients with documented positive family history and prior consultation with the WRHA Genetics & Metabolism Program is strongly recommended.  All out-of-province testing subjected to final laboratory approval.  For more information, see:
Collection Devices:
Specimen Required:
Blood: 8.0 mL

Specimen must be kept at room temperature.
Reference Values:
An interpretive report from the referral laboratory will be forwarded to the physicians.
Extracted DNA is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 12 to 14 weeks.
See Also:
More Information:
Do NOT centrifuge.  Ship blood samples at room temperature to Health Sciences Centre - MS5.  Extracted DNA will be forwarded for testing to a referral laboratory.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).