Specimen

Whole Blood

Collection Medium:

Minimum:

Adult minimum: 3 mL whole blood in lavender top (EDTA) tube.
Children minimum: 2 mL whole blood in lavender 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 up to 24 hours.  Refrigerate overnight, 
weekends and holidays.

Testing Schedule:

Weekly

Analytic Time:

21 days

Comments:

Mutations in the protein O-mannose 
beta-1,2-N-acetylglucosaminyltransferase-1 gene (POMGNT1, OMIM #606822) 
cause muscle-eye-brain disease (MEB disease, OMIM #253280).  MEB 
disease is a severe form of congenital muscular dystrophy which is 
genetically distinct from Fukuyama CMD and Walker-Warburg syndrome.

Methodology:

Sequence analysis of the coding region of the POMGnT1 gene.

CPT Code:

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