Inherited Muscular Dystrophy Gene Panel, Varies

Clinical Use

Use

The Inherited Muscular Dystrophy Gene Panel is essential for establishing a molecular diagnosis in patients with muscular dystrophy by identifying variants within genes known to be associated with the disease. This allows for predictive testing of at-risk family members. Identifying a disease-causing variant can assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.

Special Instructions

Not provided.

Limitations

This test may not detect all types of genomic variants, and false-negative or false-positive results are possible due to next-generation sequencing limitations. Some regions with high GC content, homology, or repetitive sequences may not be effectively evaluated. Detection of deletions larger than 40 base pairs may be less reliable. For specific technical limitations associated with gene regions, refer to the Method Description or consult a laboratory genetic counselor. This test does not detect low levels of mosaicism and cannot differentiate between somatic and germline variants.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (75 genes)

ACTA1ANO5B3GALNT2B4GAT1BAG3BIN1BVESCAPN3CAV3CAVIN1CHKBCOL12A1COL6A1COL6A2COL6A3CRPPACRYABDAG1DESDMDDNAJB6DNM2DPM1DPM2DPM3DYSFEMDFHL1FKRPFKTNFLNCGAAGMPPBGNEGOSR2HNRNPA1HNRNPA2B1HNRNPDLINPP5KITGA7JAG2LAMA2LARGE1LDB3LMNAMATR3MSTO1MYH7MYOTPLECPOGLUT1POMGNT1POMGNT2POMKPOMT1POMT2RXYLT1SELENONSGCASGCBSGCDSGCGSQSTM1SUN1SUN2SYNE1TCAPTIA1TMEM43TNPO3TOR1AIP1TRAPPC11TRIM32TTNVCP