Number of Panel Genes: 
3

The fibrillinopathy panel is designed to detect mutations in genes that produce disorders that have similar, if not in at least some patients, identical phenotypes. These include: Marfan syndrome or Marfan like disorders caused by FBN1 mutations, congenital contractural arachnodactyly also known as Beals syndrome or arthrogryposis, distal, type 9, caused by mutations in FBN2, and homocystinuria caused by mutations in CBS.

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Tests Available

3 Panel Genes: CBS, FBN1, FBN2
Next Generation Sequencing
$1,100
Test Code: 5003
Deletion / Duplication
$800
Test Code: 5012
NGS/Del Dup Comprehensive
$1,800
Test Code: 5013

Test Details

Technical Information
Panel Genes: 
CBS, FBN1, FBN2
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
MIM: 
154700
610168
121050
236200
Billing
Price: 
$1,100
CPT Codes: 
81406 x 1
81408 x 1
81479 x 1
Ordering
SKU:
5003
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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