Dystroglycanopathy Mutation Profile with Interpretation
Testing requires dedicated collection tube.
|Pink top tube 6 mL (K2-EDTA)
2 mL peripheral blood in EDTA (pink tube).
Specimens collected in sodium heparin.
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.
ALG13, DAG1, DPM2, FKTN, ISPD, POMGNT2, POMT2, B3GALNT2, DOLK, DPM3, GMPPB, LARGE, POMK, ST3GAL4, B4GAT1, DPM1, FKRP, GOSR2, POMGNT1, POMT1, RXYLT1
Massively parallel Next Generation DNA sequencing by synthesis, semiconductor technology, Ion Torrent