| Laboratory: | Genomics |
| Test Name: |
LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2H - LGMD2H - TRIM32 GENE - (B)
Test Code:
MD
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| Clinical Information: |
Only one ethnic specific mutation, c.1459G>A(p.D487N) in the TRIM32 gene is tested for. It is available as part of the Hutterite LGMD2H-LGMD2I panel. This test is not available to non-Hutterite patients. For more information see:
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lgmd-overview |
| 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 will be sent.
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| Availability: |
Within 12 Weeks
Expedited turnaround time, where medically indicated, available on request.
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| See Also: | |
| More Information: |
Do NOT centrifuge. Specimen is forwarded to Health Sciences Centre - MS5 for analysis. Store and ship specimens at room temperature. Specimen sent for Molecular tests is not to be used for other tests (ie. CBC).
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