Number of Panel Genes: 
2

Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by joint hypermobility, skin hyperextensibility and tissue fragility. There are numerous subtypes of EDS each with distinct genetic and clinical findings. CTGT offers several panel options for Ehlers-Danlos syndrome testing including a classic type panel, a core panel, a dominant panel, a recessive panel and a combined dominant and recessive panel.

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Tests Available

2 Panel Genes: COL5A1, COL5A2
Next Generation Sequencing
$1,100
Test Code: 1134
Genes COL5A1 & COL5A2
Deletion / Duplication
$990
Test Code: 1535
NGS/Del Dup Comprehensive
$1,750
Test Code: 1536

Test Details

Technical Information
Panel Genes: 
COL5A1, COL5A2
Test Note: 
Genes COL5A1 & COL5A2
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Skin, Tooth, Nail and Hair Disorders
MIM: 
130000
130010
Billing
Price: 
$1,100
CPT Codes: 
81479 x 2
Ordering
SKU:
1134
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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