Dystroglycanopathy Mutation Profile with Interpretation
| Label Mnemonic: | DGP |
| Epic code: | LAB8801 |
| Downtime form: | A-1a Doctor/Provider Orders - Pathology Molecular |
Molecular Pathology
6240 RCP
384-9568
6240 RCP
384-9568
Specimen(s):
Peripheral Blood
Specimen
Instructions:
Testing requires dedicated collection tube.
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
CPT Code:
81479