POMGNT1 Full Gene Sequence with Interpretation
Label Mnemonic: POMGNT1
Epic Lab Code: LAB2479
Downtime Form: A-1a Doctor/Provider Orders - Pathology Molecular
Molecular Pathology
6004 BT GH
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
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:
Turn Around Time:
21 days
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).
Sequence analysis of the coding region of the POMGnT1 gene.
CPT Code: