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

By gene: TGFBR1
Sanger Sequencing
$600
Test Code: 1025
Deletion / Duplication
$680
Test Code: 1026
Sanger/Del Dup Comprehensive
$1,180
Test Code: 1468

Test Details

Technical Information
Genes: 
TGFBR1
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
MIM: 
608967
Billing
Price: 
$600
CPT Codes: 
81405 x 1
Ordering
SKU:
1025
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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