| Laboratory: | Genomics |
| Test Name: |
CHARCOT-MARIE-TOOTH NEUROPATHY X TYPE 1 (CMTX1) - GJB1 GENE - (B)
Test Code:
MD
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| Clinical Information: |
Testing done for confirmation of clinical diagnosis in patients with axonal/demyelinating neuropathy. Family history consistent with X-linked pattern of inheritance. Asymptomatic testing only 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:
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cmtx |
| Collection Devices: |
Preferred Device:
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| Specimen Required: |
Blood: 8.0 mL
Specimen must be kept at room temperature. |
| Referral: |
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| Requisition: | |
| Reference Values: |
An interpretive report from the referral laboratory will be forwarded to the physician.
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| Availability: |
Extracted DNA is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 12 to 14 weeks.
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| 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 reference laboratory. Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).
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