| Laboratory: | Genomics |
| Test Name: |
LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2I - LGMD2I - FKRP GENE - (B)
Test Code:
MD
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| Clinical Information: |
This test is part of the Hutterite LGMD2H-LGMD2I panel where one ethnic specific FKRP mutation, c.826C>A(p.L276I) is tested. Sequencing of the entire coding region of the FKRP gene available for all FKRP-related disorders. 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: |
Turnaround time for the common mutation only is 12 weeks. Complete sequencing of the FKRP gene will be reported within 6 months. Expedited turnaround time, where medically indicated, available on request.
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| See Also: | |
| More Information: |
Do NOT centrifuge. Specimen is forwarded to the Health Sciences Centre - MS5 for analysis. Store and ship specimens at room temperature. Specimen sent for Molecular testing is not to be used for other tests (Ie. CBC).
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