Number of Panel Genes: 
20

The Distal myopathy NGS panel consists of 20 genes: ANO5,  BAG3,  CAV3,  CRYAB,  DES,  DNAJB6,  DNM2, DYSF,  FHL1,  FLNC,  GNE,  LDB3,  MATR3,  MYH7,  MYOT,  SQSTM1,  TCAP, TIA1,  TTN and  VCP. Mutations in these genes cause genetically and clinically heterogeneous group of disorders characterized by muscular dystrophy with predilection for distal muscles.

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Tests Available

20 Panel Genes: ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP
Next Generation Sequencing
$1,395
Test Code: 5238
Deletion / Duplication
$990
Test Code: 5239
NGS/Del Dup Comprehensive
$1,770
Test Code: 5240

Test Details

Technical Information
Panel Genes: 
ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP
Disease Groups: 
Neurological and Muscular Disorders
Billing
Price: 
$1,395
CPT Codes: 
81404 x 1
81405 x 2
81406 x 3
81407 x 1
81408 x 1
81479 x 12
Ordering
SKU:
5238
Turnaround Time: 
Typically 2 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: a minimum of 3 µg (at a concentration of at least 30 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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