Dystroglycanopathy Mutation Profile with Interpretation
| Label Mnemonic: | DGP |
| Epic code: | LAB8801 |
| Order form: | Molecular Genetics General Consult Requisition |
| Supply order: | Supply Order Form |
| Billing: | Billing Policies |
| CPT code: | 81479 |
Specimen(s):
Peripheral Blood
Collection Medium:
|
| Pink top tube 6 mL (K2-EDTA) |
Minimum:
2 mL peripheral blood in EDTA (pink tube).
Rejection Criteria:
Specimens collected in sodium heparin.
Testing Schedule:
Weekly
Turn Around Time:
14 days
Comments:
The DGP (Dystroglycanopathy Mutation Profiling) test is a massively
parallel next generation DNA sequencing-based assay that targets
commonly mutated regions of 21 dystroglycanopathy related genes.
Genes Assessed:
ALG13, DAG1, DPM2, FKTN, ISPD, POMGNT2, POMT2, B3GALNT2, DOLK, DPM3, GMPPB, LARGE, POMK, ST3GAL4, B4GAT1, DPM1, FKRP, GOSR2, POMGNT1, POMT1, RXYLT1
Genes Assessed:
ALG13, DAG1, DPM2, FKTN, ISPD, POMGNT2, POMT2, B3GALNT2, DOLK, DPM3, GMPPB, LARGE, POMK, ST3GAL4, B4GAT1, DPM1, FKRP, GOSR2, POMGNT1, POMT1, RXYLT1
Methodology:
Massively parallel Next Generation DNA sequencing by synthesis,
semiconductor technology, Ion Torrent
Instructions:
Testing requires dedicated collection tube.
Sample Storage:
Refrigerate.
Transport Instructions:
Place specimen into zip-lock type bag, seal bag.
Recommend early AM overnight shipping or equivalent if not on courier service.
Ship refrigerated.
Place requisition into outside pocket of bag.
Recommend early AM overnight shipping or equivalent if not on courier service.
Ship refrigerated.
Place requisition into outside pocket of bag.