Number of Panel Genes: 

Ehlers-Danlos syndrome (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. Mutations in C1R and C1S have been shown to cause an autosomal dominant disorder, periodontal EDS (EDSPD). Typical clinical findings include early-onset periodontitis, gingival fragility and bleeding, and early tooth more

Tests Available

2 Panel Genes: C1R, C1S
Next Generation Sequencing
Test Code: 5250
Deletion / Duplication
Test Code: 5251
NGS/Del Dup Comprehensive
Test Code: 5252

Test Details

Technical Information
Panel Genes: 
C1R, C1S
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81479 x 1
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: 2 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: 2 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)
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