| Laboratory: | Genomics |
| Test Name: |
FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD) - D4Z4 locus - (B)
Test Code:
MD
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| Clinical Information: |
Testing done for confirmation of clinical diagnosis. Testing asymptomatic adult patients with a family history of FSHD available, but prior consultation with the WRHA Genetics and Metabolism Program is strongly recommended. All out-of-province testing is subject to final laboratory approval. For more information on Facioscapulohumeral Muscular Dystrophy, see:
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fsh |
| Collection Devices: |
Preferred Device:
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| Specimen Required: |
Blood: 8.0 mL
Specimen must be drawn Mon to Wed to allow for sample shipping to out-of-province laboratory as whole blood. Specimen must be kept at room temperature. Contact laboratory to arrange for prenatal diagnosis and identify specimen requirements. |
| 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: |
Weekdays, Monday to Wednesday only. Specimen is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 16 to 18 weeks.
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| See Also: | |
| More Information: |
Sample MUST be drawn and sent to Health Sciences Centre - MS5 within 24 hours of blood draw and received in laboratory by Wednesday. Do NOT centrifuge. Store and ship specimen at room temperature. Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).
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