Aortic aneurysm, familial thoracic (AAT) 3 (AAT3; MIM 610380), AAT4 (MIM 132900), AAT5 (MIM 608967), AAT6 (MIM 611788), AAT7 (MIM 613780), AAT8 (MIM 615436), AAT9 (MIM 616166), SMAD3 related AAT, TGFB2 related AAT and TGFB3 related AAT are dominantly inherited disorders.

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Tests Available

Panel Genes: TGFBR1, TGFBR2
Sanger Sequencing
$900
Test Code: 1027
Deletion / Duplication
$750
Test Code: 1469
Sanger/Del Dup Comprehensive
$1,550
Test Code: 1470

Test Details

Technical Information
Panel Genes: 
TGFBR1, TGFBR2
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
MIM: 
608967
610380
Billing
Price: 
$900
CPT Codes: 
81405 x 2
Ordering
SKU:
1027
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: 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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