Limb-Girdle Muscular Dystrophy Panel
| Concurrent analysis of multiple genes associated with muscular dystrophies characterized by progressive muscle disease with prominent proximal weakness and wasting. |
NY Approved
Test Overview
Clinical Utility
- Molecular confirmation of a clinical diagnosis
- Identification of at-risk family members
- Assist with management/treatment decisions
- Recurrence risk
Test Details
Genes
ANO5, BVES, CAPN3, CAV3, DES, DMD, DNAJB6, DOK7, DYSF, FKRP, FKTN, GAA, GMPPB, LMNA, MYOT, PNPLA2, POGLUT1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SQSTM1, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP
Conditions
- Limb-Girdle Muscular Dystrophy (LGMD)
- Muscular Dystrophy-Dystroglycanopathy (LGMD)
- Walker–Warburg Syndrome
Lab Method
- Deletion/Duplication Analysis
- Next-Gen Sequencing
Ordering Information
Resources
Test Documents
Billing
Targeted Variant Testing