POMT2 Sequencing
| Order Code: | POMT2 |
| Order Form: | Muscular Dystrophy Molecular Genetics Requisition |
Specimen:
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.
Testing
Schedule:
Weekly
Analytic 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 Walker-
Warburg syndrome (WWS, OMIM 236670). 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.
Methodology:
PCR followed by sequence analysis of the coding regions of the POMT2
gene.
Sample
Processing:
Lavender tube is sent as whole blood, no processing necessary.
Sample
Storage:
Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, or weekends, or holidays.
Transport
Instructions:
Place specimen into styrofoam container, seal container.
DO NOT FREEZE, protect specimen by wrapping in bubble-wrap or toweling.
Recommend express mail or equivalent if not on courier service.
DO NOT FREEZE, protect specimen by wrapping in bubble-wrap or toweling.
Recommend express mail or equivalent if not on courier service.
CPT Code:
83898(x16), 83904(x16)