Limb girdle muscular dystrophy NGS panel

Number of Panel Genes: 
31

Limb-girdle muscular dystrophies comprises a group of clinically and genetically highly heterogeneous disorders. The common features include progressive weakness of proximal muscles, increased plasma creatine kinase levels and abnormal muscle histopathology. It is characterized by wide variability in clinical features, rate of progression, and age of onset (from childhood to adulthood).
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Tests Available

31 Panel Genes: ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN
Next Generation Sequencing
$1,990
Test Code: 5215
Deletion / Duplication
$1,500
Test Code: 5216
Del / Dup not available for TTN exons 169-198
NGS/Del Dup Comprehensive
$3,340
Test Code: 5217
Del / Dup not available for TTN exons 169-198
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Test Details

Technical Information
Panel Genes: 
ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN
Disease Groups: 
Neurological and Muscular Disorders
Billing
Price: 
$1,990
CPT Codes: 
81404 x 1
81405 x 8
81406 x 8
81408 x 1
81479 x 13
Ordering
SKU:
5215
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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