Number of Panel Genes: 
9

The dominant 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

9 Panel Genes: C1R, C1S, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL12A1, FLNA
Next Generation Sequencing
$1,350
Test Code: 5064
Deletion / Duplication
$990
Test Code: 5065
HDT Array test is not available for FLNA
NGS/Del Dup Comprehensive
$2,190
Test Code: 5066
HDT Array test is not available for FLNA

Test Details

Technical Information
Panel Genes: 
C1R, C1S, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL12A1, FLNA
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
MIM: 
130000
130010
130050
130060
300537
Billing
Price: 
$1,350
CPT Codes: 
81408 x 2
81479 x 7
Ordering
SKU:
5064
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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