Limb‑Girdle Muscular Dystrophy Panel
Use
This test aids in the molecular diagnosis of limb‑girdle muscular dystrophies by analyzing a set of genes known to contribute to proximal muscle weakness and wasting. Identification of a pathogenic variant may facilitate prognosis, guide clinical management (including cardiac, respiratory monitoring), inform recurrence risk assessment, and support familial screening and genetic counseling.
Special Instructions
Uses genomic DNA from submitted specimen. Employs GeneDx’s proprietary targeted capture system for NGS with integrated copy‑number (CNV) calling. Includes methods to detect an insertion in FKTN and whole‑gene deletions/duplications in POMGNT1. Analysis covers coding regions and splice‑junctions of included genes.
Limitations
Sequence analysis only of FKRP; only whole‑gene deletions/duplications detectable for POMGNT1. May not detect variants outside coding/splice regions; copy‑number detection limited to defined genes. Additional limitations (e.g., coverage gaps) not specified here.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided