Calpain 3 Full Gene Sequence with Interpretation
Label Mnemonic: CAPN
Epic Lab Code: LAB2448
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood
Specimen Instructions:
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of results.
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Adult minimum: 3 mL whole blood in lavender top (EDTA) tube. Children minimum: 2 mL whole blood in lavender top (EDTA) tube. Optional specimen type: Formalin Fixed paraffin embedded tissue; Fresh Frozen tissue. Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing.
Rejection Criteria:
Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, or weekends, or holidays.
Testing Schedule:
Weekly
Turn Around Time:
21 days
Reference Range:
Normal
Interpretive Data:
Mutations in the calpain-3 gene (CAPN3) cause autosomal recessive limb- girdle muscular dystrophy type 2A (LGMD2A).
Methodology:
Sequence Analysis of the coding region of the CAPN3 gene.
CPT Code:
81406