• Test Code:
    1297
  • Department:
  • Test Synonyms:
    Neuromuscular disordersANO5CAPN3CAV3COL6A1COL6A2COL6A3DAG1DESDMDDYSFEMDFHL1FKRPFKTNFLNCGAA GNEISPDLMNAMYOTPLECPOMGNT1POMT1POMT2SGCASGCBSGCDSGCGSYNE1SYNE2TCAPTRIM32TTNVCP
  • CPT Code(s):
    8116181404x581405x981406x881407x381408x281479x10
Background:

Neuromuscular disorders are a group of heterogeneous conditions affecting the nervous system that controls muscle movements. This neuronal damage in turn causes degradation of the affected muscular tissue causing weakness and loss of muscle tone. Limb-girdle muscular dystrophies are a group of specific neuromuscular disorders that specifically affect the shoulders and pelvic joints. The age of onset can vary even when there is a family history. Limb-girdle muscular dystrophies can be inherited either in an autosomal dominant or recessive pattern and the prevalence ranging between 1:14,500 and 1:123,000.

Reasons for Referral:

  • Muscle weakness, especially with targeted in the shoulders and pelvic regions.
  • Abnormal muscle biopsy.
  • Abnormal serum creatine kinase levels.

Methodology:

This test has two components:

Component 1: Next generation sequencing will analyze the exons or coding regions of 34 Limb-Girdle Muscular Dystrophy-associated genes using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Promoter, intronic, etc. regions are not assessed here but may contain variants that impact gene function.

Component 2: A customized CytoSure “exon-centric” array (Oxford Gene Technology) will be used to detect deletions and duplications. The targeted array has enhanced probes targeted to the exonic regions of the 34 Limb-Girdle Muscular Dystrophy-associated genes. The arrays will be run using Agilent SureScan technology. This array is an ideal complement to the next generation sequencing approach to provide a comprehensive mutation spectrum analysis for Limb-Girdle Muscular Dystrophy.

Limb-Girdle Muscular Dystrophy Panel (34 genes): ANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GNE, ISPD, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TRIM32, TTN, VCP

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. GeneReviews: Limb-Girdle Muscular Dystrophy Overview http://www.ncbi.nlm.nih.gov/books/NBK1408/

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

Learn More