Calpain 3 Sequencing
Order Code: CAPN
Epic Lab Code: LAB2448
Order Form: A-1a Molecular Pathology/Diagnostics or Epic Req
Molecular Pathology
6004 BT GH
384-9568
Specimen:
Whole Blood
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.
Specimen Instructions:
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of results.
Testing Schedule:
Weekly
Analytic 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). Sequence analysis of CAPN3 is accomplished in a tiered approach. The first tier involves testing 14 CAPN3 exons which, collectively, capture 83% of reported mutations. If tier 1 testing yields normal or inconclusive results the remaining 10 CAPN3 exons are analyzed.
Methodology:
Sequence Analysis of the coding region of the CAPN3 gene.
CPT Code:
1st tier: 83912, 83890, 83898(x7), 83904(x7); 2nd tier: 83898(x10), 83904(x10); if paraffin block or fresh tissue is submitted, remove CPT code 83890 and add 83907.