Specimen

Whole Blood

Collection Medium:

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, 83901(x7), 83904(x7); 2nd tier: 83901(x10), 
83904(x10); if paraffin block or fresh tissue is submitted, remove CPT 
code 83890 and add 83907.