Ehlers-Danlos syndrome (EDS) is a connective tissue disorder composed of numerous subtypes with distinct genetic and clinical findings. In general, EDS is characterized by joint hypermobility, skin hyperextensibility and tissue fragility.

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Tests Available

Panel Genes: COL1A1, COL1A2
Sanger Sequencing
$570
Test Code: 1138
Exons 5 to 7 of both COL1A1 and COL1A2 only
Deletion / Duplication
$750
Test Code: 1139
Sanger/Del Dup Comprehensive
$1,220
Test Code: 1538

Test Details

Technical Information
Panel Genes: 
COL1A1, COL1A2
Test Note: 
Exons 5 to 7 of both COL1A1 and COL1A2 only
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
Skin, Tooth, Nail and Hair Disorders
MIM: 
130060
Billing
Price: 
$570
CPT Codes: 
81479 x 2
Ordering
SKU:
1138
Turnaround Time: 
Typically 1 to 2 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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