Marfan syndrome, type I (MFS1; MIM 154700) and type II (MFS2; MIM 610168) are autosomal dominantly inherited disorders potentially affecting numerous organ sites. These include: the bones, eyes, lungs, skin, CNS and cardiovascular system. The most serious consequence of Marfan syndrome is due to the progressive dilatation of the aortic root and the consequent potential for dissection. MFS1 is caused by mutations in the FBN1 more

Tests Available

By gene: TGFBR2
Sanger Sequencing
Test Code: 1189
Deletion / Duplication
Test Code: 1190
NGS/Del Dup Comprehensive
Test Code: 1578

Test Details

Technical Information
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
CPT Codes: 
81405 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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