Arterial tortuosity syndrome (ATS; MIM 208050) is an autosomal recessive disorder characterized by tortuosity, elongation, and aneuryms of major arteries and the aorta. Additional cardiovascular findings may include aberrant origin of aortic branches, aortic stenosis, pulmonary artery or pulmonary valve stenosis or stenosis of additional arteries, and vasomotor more

Tests Available

By gene: SLC2A10
Sanger Sequencing
Test Code: 1038
Deletion / Duplication
Test Code: 1039
NGS/Del Dup Comprehensive
Test Code: 1480

Test Details

Technical Information
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
CPT Codes: 
81479 x 1
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: 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.

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