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.

Testing
Schedule:

Weekly

Analytic Time:

21 days

Reference Range:

Normal

Comments:

Testing requires dedicated collection tube.

Methodology:

Sequence analysis of the coding region of the FKRP 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.

CPT Code:

83890, 83894, 83898, 83904, 83912; if paraffin block or fresh tissue is 
submitted, remove CPT code 83890 and add 83907.

See Additional Information:
Fukutin Related Protein (FKRP) Gene Sequence Analysis Information