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: MFAP5
Sanger Sequencing
$685
Test Code: 2009
Deletion / Duplication
$680
Test Code: 2010
Sanger/Del Dup Comprehensive
$1,265
Test Code: 2011

Test Details

Technical Information
Genes: 
MFAP5
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
MIM: 
616166
Billing
Price: 
$685
CPT Codes: 
81479 x 1
Ordering
SKU:
2009
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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