POMT2 Full Gene Sequence with Interpretation
Label Mnemonic: POMT2
Epic Lab Code: LAB2494
Downtime Form: A-1a Miscellaneous Request
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
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 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
Turn Around 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 muscular dystrophy-dystroglycanopathy type A2 (OMIM #613150; formerly referred to as Walker-Warburg Syndrome (WWS)). 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. Mutation in POMT2 can also result in muscular dystrophy-dystroglycanopathy type C2 (OMIM #613158; formerly call Limb Girdle Muscular Dystrophy (LGMD) type 2N).
Methodology:
PCR followed by sequence analysis of the coding regions of the POMT2 gene.
CPT Code:
81406