Clinical DNA Testing

Dystroglycanopathies

Test Description:

Dystroglycanopathy Gene Sequential Testing

LGMD2I: FKRP Exon Sequencing

LGMD2K: POMT1 Exon Sequencing

LGMD2M: FKTN (FCMD) Exon Sequencing

LGMD-MR: POMT2 Exon Sequencing

FCMD: Japanese founder mutation PCR; FKTN Exon Sequencing

MDC1C: FKRP Exon Sequencing

MDC1D: LARGE1 Exon Sequencing

MEB: POMGnT1 Exon Sequencing; FKRP Exon Sequencing

WWS:
POMT1 Exon Sequencing; POMT2 Exon Sequencing; POMGnT1 Exon Sequencing; FKTN Exon Sequencing; FKRP Exon Sequencing; LARGE1 Exon Sequencing