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Laboratory: Genomics
Test Name:
LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2I - LGMD2I - FKRP GENE - (B)
Test Code: MD
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:
Specimen Required:
Blood: 8.0 mL

Specimen must be kept at room temperature.
Referral:
Requisition:
Reference Values:
An interpretive report will be sent.
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.
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).