University of Iowa
Diagnostic Laboratories
(UIDL) Test Directory

319-384-7212 (local)
1-866-844-2522 (toll free)


POMT2 Sequencing Order Code: POMT2
Order Form: Muscular Dystrophy Molecular Genetics Requisition
Specimen:
Whole Blood
Collection Medium:
Lavender top tube (EDTA)
Minimum:
Adult minimum: 3 mL whole blood in lavendar top (EDTA) tube.
Children minimum: 2 mL whole blood in lavendar 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.
CPT Code:
83898(x16), 83904(x16), 83912-26

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Updated: 06/06/2008