Specimen:

Whole Blood

Collection Medium:

Minimum:

Adult minimum: 3 mL whole blood in lavendar top (EDTA) tube.
Children minimum: 2 mL whole blood in lavendar 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

Comments:

Mutations in the protein O-mannosyltransferases-1 gene (POMT1, OMIM 
#607423) cause disorders in the dystroglycanopathy spectrum, all with 
autosomal recessive inheritance.  At the severe side of the spectrum is 
Walker-Warburg syndrome (WWS, OMIM # 236670) a congenital muscular 
dystrophy associated with defects in neuronal migration that produce 
complex brain and eye abnormalities.  At the less severe side of the 
spectrum is autosomal recessive limb-girdle muscular dystrophy type 2K 
(LGMD2K, OMIM #609308).

Methodology:

PCR followed by sequence analysis of the coding regions of the POMT1 
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.

CPT Code:

83904(x12), 83898(x12), 83890, 83912-26; if paraffin block or fresh 
tissue is submitted, remove CPT code 83890 and add 83907.