Number of Panel Genes: 
24

Distal hereditary motor neuropathy is a clinically and genetically heterogeneous group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord. It is a progressive disorder resulting in severe atrophy and wasting of distal limb muscles usually without sensory impairment.

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Tests Available

24 Panel Genes: ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, TRPV4
Next Generation Sequencing
$1,420
Test Code: 5200
Deletion / Duplication
$990
Test Code: 5201
NGS/Del Dup Comprehensive
$1,795
Test Code: 5202

Test Details

Technical Information
Panel Genes: 
ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, TRPV4
Disease Groups: 
Neurological and Muscular Disorders
Billing
Price: 
$1,420
CPT Codes: 
81404 x 2
81405 x 1
81406 x 2
81479 x 19
Ordering
SKU:
5200
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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