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 gene.read more

Tests Available

By gene: FBN1
Next Generation Sequencing
$990
Test Code: 1187
Deletion / Duplication
$680
Test Code: 1188
NGS/Del Dup Comprehensive
$1,570
Test Code: 1577

Test Details

Technical Information
Genes: 
FBN1
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Eye Disorders
MIM: 
154700
Billing
Price: 
$990
CPT Codes: 
81408 x 1
Ordering
SKU:
1187
Turnaround Time: 
Typically 3 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: 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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