Invitae Limb-Girdle Muscular Dystrophy Panel
Use
The Invitae Limb-Girdle Muscular Dystrophy Panel analyzes genes associated with limb-girdle muscular dystrophy (LGMD), providing a comprehensive test for the genetic causes of LGMD. It helps confirm clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counselling, and promote enrollment in clinical trials. It focuses on a genetically heterogeneous group of conditions characterized by muscle weakness and wasting, primarily affecting limb-girdle musculature.
Special Instructions
Sponsored testing is available, with options for insurance and patient-pay billing. The test covers full-gene sequencing and deletion/duplication analysis, offering a comprehensive evaluation for LGMD. Genes can be removed or selected based on specific clinical needs.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions/duplications. It might have reduced sensitivity for larger insertions/deletions that are smaller than a full exon. Variants such as structural rearrangements or embedded in complex sequence architecture may not be detected. The analysis excludes sequence changes in promoters, non-coding exons, and other non-coding regions unless explicitly guaranteed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)