POMT1 Full Gene Sequence with Interpretation
Label Mnemonic: POMT1
Epic Lab Code: LAB2493
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 protein O-mannosyltransferases-1 gene (POMT1, OMIM #607423) cause disorders in the dystroglycanopathy spectrum, all with autosomal recessive inheritance. At the severe end of the spectrum is muscular dystrophy-dystroglycanopathy type A,1 (OMIM #236670; formerly referred to as Walker-Warburg syndrome (WWS)) a congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities. At the less severe end of the spectrum is muscular dystrophy-dystroglycanopathy type C,1 (OMIM #609308; formerly referred to as limb-girdle muscular dystrophy type 2K (LGMD2K)).
Methodology:
PCR followed by sequence analysis of the coding regions of the POMT1 gene.
CPT Code:
81406