Number of Panel Genes: 
12

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

12 Panel Genes: ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13
Next Generation Sequencing
$1,490
Test Code: 5067
Deletion / Duplication
$1,150
Test Code: 5068
HDT Array test is not available for FLNA
NGS/Del Dup Comprehensive
$2,490
Test Code: 5069
HDT Array test is not available for FLNA

Test Details

Technical Information
Panel Genes: 
ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13
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
225410
304150
601776
614505
225400
612350
Billing
Price: 
$1,490
CPT Codes: 
81408 x 2
81479 x 10
Ordering
SKU:
5067
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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