Laboratory: Genomics
Test Name:
LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2H - LGMD2H - TRIM32 GENE - (B)
Test Code: MD
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:
Specimen Required:
Blood: 8.0 mL

Specimen must be kept at room temperature.
Referral:
Requisition:
Reference Values:
An interpretive report will be sent.
Availability:
Within 12 Weeks
Expedited turnaround time, where medically indicated, available on request.
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).