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.

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).

Sample
Processing:

Do Not Centrifuge.
Label transport tube with two patient identifiers, date and time of 
collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order 
to provide correct interpretation of test results.
Submit whole blood in original container.
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 requisition into outside pocket of bag.
Recommend express mail or equivalent if not on courier service.
Ship at ambient temperature.
Place specimen into styrofoam container, seal container.
DO NOT FREEZE, protect specimen by wrapping in bubble-wrap or toweling.

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

See Additional Information:
Limb-Girdle Muscular Dystrophy Information