Calpain 3 Sequencing
| Order Code: | CAPN |
| Order Form: | Muscular Dystrophy Molecular Genetics Requisition |
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.
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.
Sample
Processing:
Lavender tube is sent as whole blood, no processing necessary.
Sample
Storage:
Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, or weekends, or holidays.
Transport
Instructions:
Place specimen into styrofoam container, seal container.
DO NOT FREEZE, protect specimen by wrapping in bubble-wrap or toweling.
Recommend express mail or equivalent if not on courier service.
Ship at ambient temperature.
DO NOT FREEZE, protect specimen by wrapping in bubble-wrap or toweling.
Recommend express mail or equivalent if not on courier service.
Ship at ambient temperature.
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.