Specimen:

Whole Blood

Collection Medium:

Minimum:

Adults - 3 mL whole blood in lavender top tube (EDTA)
Children - 2 mL whole blood in lavender top tube (EDTA)
Testing on smaller volumes than those requested will be attempted.  
However, in some cases, small blood volumes may compromise the ability 
to perform testing.
Testing requires a dedicated collection tube.
Do not freeze.

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:

0800-1700 Testing offered once per week
excluding weekends and University holidays.

Analytic Time:

2 weeks

Reference Range:

By report

Comments:

Direct detection of mutations for alpha sarcoglycan R77C, beta 
sarcoglycan S114F and fukutin-related protein L276I.

Methodology:

Polymerase Chain Reaction - Amplification Refractory Mutation System 
(ARMS).

CPT Code:

83890, 83894, 83900, 83901, 83912; if paraffin block or fresh tissue is 
submitted, remove CPT code 83890 and add 83907.

See also:
FKRP Sequencing, Whole Blood
Limb-Girdle Muscular Dystrophy (LGMD), Muscle Biopsy