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.

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:

Weekly

Analytic Time:

21 days

Reference Range:

Normal

Comments:

Mutations in the POMT2 gene (OMIM 607439) cause a form of congenital 
muscular dystrophy with structural brain abnormalities called 
Walker-Warburg syndrome (WWS, OMIM 236670).  Fukutin and FKRP gene 
mutations have also been implicated in WWS and, along with POMT1 
account for approximately 20% of all WWS.  The protein encoded by this 
gene, protein 0-mannosyltransferase-2, is an enzyme involved in 
glycosylation of alpha dystroglycan.

Methodology:

PCR followed by sequence analysis of the coding regions of the POMT2 
gene.

CPT Code:

83898(x16), 83904(x16), 83912-26