Number of Panel Genes: 

Marfan syndrome and Loeys-Dietz syndrome are autosomal dominant disorders that affect numerous organs including the bones, eyes, lungs, skin and cardiovascular system.  The most serious consequence of these disorders is progressive dilatation of the aortic root and the potential for dissection.

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Tests Available

3 Panel Genes: FBN1, TGFBR1, TGFBR2
Next Generation Sequencing
Test Code: 5260
Deletion / Duplication
Test Code: 5261
NGS/Del Dup Comprehensive
Test Code: 5262

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
CPT Codes: 
81405 x 1
81408 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.

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