Number of Panel Genes: 
6

The dominant & recessive Ehlers-Danlos syndrome panel is designed to detect mutations in genes that cause clinical features related to Ehlers-Danlos syndrome (EDS). 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.read more

Tests Available

6 Panel Genes: ADAMTS2, ATP7A, CHST14, FKBP14, PLOD1, SLC39A13
Next Generation Sequencing
$1,270
Test Code: 5070
Deletion / Duplication
$990
Test Code: 5071
NGS/Del Dup Comprehensive
$2,110
Test Code: 5072

Test Details

Technical Information
Panel Genes: 
ADAMTS2, ATP7A, CHST14, FKBP14, PLOD1, SLC39A13
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
Skin, Tooth, Nail and Hair Disorders
MIM: 
225410
304150
601776
614505
225400
612350
Billing
Price: 
$1,270
CPT Codes: 
81479 x 6
Ordering
SKU:
5070
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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