Neurology
Limb Girdle Muscular Dystrophies, Myofibrillar Myopathies and Distal Myopathies Panel
Overview
Test Name
Limb Girdle Muscular Dystrophies, Myofibrillar Myopathies and Distal Myopathies Panel
Test Code
NUE1025
Test Category
Gene Panels
Test Subcategory
Neurology
Disease(s) Targeted
Limb girdle muscular dystrophies, myofibrillar myopathies, and distal myopathies
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of limb girdle muscular dystrophy, distal myopathy or myofibrillar myopathy.
Test Approach
Whole exome sequencing (WES) with in silico gene panel analysis.
No. of Genes
67
Panel Content
ABHD5, ACADVL, ACTN2, ANO5, BAG3, BVES, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, CPT2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DOK7, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, HMGCR, HNRNPDL, LAMA2, LAMP2, LMNA, LPIN1, MTM1, MYH7, MYOT, ORAI1, PFKM, PHKA1, PLEC, PNPLA2, POMGNT1, POMGNT2, POMT1, POMT2, POPDC3, PYGM, PYROXD1, RYR1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, STIM1, SYNE1, SYNE2, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP, VMA21
Deliverables
Clinical Report (Download a sample report here)
Turnaround Time
~3-6 weeks*
Specimen Requirements
For detailed information about the sample requirements, please consult our clinical sample requirements page.
About Limb girdle muscular dystrophies, myofibrillar myopathies, and distal myopathies
Limb girdle muscular dystrophies, myofibrillar myopathies, and distal myopathies are inherited muscle disorders causing progressive weakness.
Gene Panel Workflow
Order a test using our clinical portal
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