POMT1 Sequencing
| Order Code: | POMT1 |
| 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 protein O-mannosyltransferases-1 gene (POMT1, OMIM
#607423) cause disorders in the dystroglycanopathy spectrum, all with
autosomal recessive inheritance. At the severe side of the spectrum is
Walker-Warburg syndrome (WWS, OMIM # 236670) a congenital muscular
dystrophy associated with defects in neuronal migration that produce
complex brain and eye abnormalities. At the less severe side of the
spectrum is autosomal recessive limb-girdle muscular dystrophy type 2K
(LGMD2K, OMIM #609308).
Methodology:
PCR followed by sequence analysis of the coding regions of the POMT1
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:
83904(x12), 83898(x12), 83890, 83912; if paraffin block or fresh tissue
is submitted, remove CPT code 83890 and add 83907.