Ehlers-Danlos syndrome (EDS) is a connective tissue disorder composed of numerous subtypes with distinct genetic and clinical findings. In general, EDS is characterized by joint hypermobility, skin hyperextensibility and tissue fragility.

read more

Tests Available

By gene: COL5A2
Next Generation Sequencing
$990
Test Code: 1132
Deletion / Duplication
$990
Test Code: 1133
NGS/Del Dup Comprehensive
$1,365
Test Code: 1534

Test Details

Technical Information
Genes: 
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: 
130010
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1132
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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search