Number of Panel Genes: 
21

The dominant & recessive Ehlers-Danlos syndrome NGS 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

21 Panel Genes: ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL12A1, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, ZNF469
Next Generation Sequencing
$1,300
Test Code: 5067
Deletion / Duplication
$990
Test Code: 5068
NGS/Del Dup Comprehensive
$1,500
Test Code: 5069

Test Details

Technical Information
Panel Genes: 
ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL12A1, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, ZNF469
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: 
$1,300
CPT Codes: 
81408 x 2
81479 x 19
Ordering
SKU:
5067
Turnaround Time: 
Typically 2 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: a minimum of 3 µg (at a concentration of at least 30 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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