POMGNT1 Full Gene Sequence with Interpretation
Label Mnemonic: POMGNT1
Epic Lab Code: LAB2479
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
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 up to 24 hours. Refrigerate overnight, weekends and holidays.
Testing Schedule:
Weekly
Turn Around 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. Mutation in POMGNT1 can also result in Limb Girdle Muscular Dystrophy dystroglycanopathy, type C3 (previously known as LGMD, type 2O).
Methodology:
Sequence analysis of the coding region of the POMGnT1 gene.
CPT Code:
81406