Number of Panel Genes: 
3

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

3 Panel Genes: COL3A1, COL5A1, COL5A2
Next Generation Sequencing
$1,190
Test Code: 5209
Deletion / Duplication
$800
Test Code: 5210
NGS/Del Dup Comprehensive
$1,890
Test Code: 5211

Test Details

Technical Information
Panel Genes: 
COL3A1, COL5A1, COL5A2
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Ehlers-Danlos Syndrome and Related Disorders
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,190
CPT Codes: 
81479 x 3
Ordering
SKU:
5209
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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