Number of Panel Genes:
2
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.read more
Tests Available
2 Panel Genes: COL5A1, COL5A2
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Next Generation Sequencing
$1,000
Test Code: 1134
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Deletion / Duplication
$990
Test Code: 1535
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NGS/Del Dup Comprehensive
$1,200
Test Code: 1536
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Test Details
Technical Information
Panel Genes:
COL5A1, COL5A2
Disease Groups:
Ehlers-Danlos Syndrome and Related Disorders
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Skin, Tooth, Nail and Hair Disorders
MIM:
130000
130010
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1134 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.
