Number of Panel Genes: 
3

Marfan syndrome (MFS; MIM 154700), Loeys-Dietz syndrome 1 (LDS1; MIM 609192) and Loeys-Dietz syndrome 2 (LDS2; MIM 610168) 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. 

read more

Tests Available

3 Panel Genes: FBN1, TGFBR1, TGFBR2
Next Generation Sequencing
$1,150
Test Code: 1192
Deletion / Duplication
$800
Test Code: 1581
NGS/Del Dup Comprehensive
$1,850
Test Code: 1582

Test Details

Technical Information
Panel Genes: 
FBN1, TGFBR1, TGFBR2
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
MIM: 
154700
609192
610168
Billing
Price: 
$1,150
CPT Codes: 
81408 x 1
81405 x 2
Ordering
SKU:
1192
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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search