TAADNext

Thoracic aortic aneurysms and dissections, Marfan syndrome, and other related disorders are serious genetic conditions that often contribute to sudden cardiac death, so an accurate diagnosis is essential to prevent life-threatening events. TAADNext is a 22-gene panel that precisely analyzes 22 genes associated with these disorders, helping you confirm a diagnosis that aids in patient management and treatment options.

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Quick Reference
Test Code: 5463 Test Name: FBN1 specific site analysis TAT 7-14 days Gene: 1
Test Code: 5661 Test Name: FBN1 del/dup TAT 7-14 days Gene: 1
Test Code: 8781 Test Name: FBN1 seq and del/dup TAT 2-4 weeks Gene: 1
Test Code: 8783 Test Name: FBN1 reflex to TAADNext TAT 3-5 weeks Genes: 22
Test Code: 8789 Test Name: TAADNext TAT 2-4 weeks Genes: 22

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Why Is This Important?

Knowing if your patient has a hereditary cardiovascular disorder can help you determine their future cardiovascular disease risks and guide your medical management recommendations. Key benefits include:

  1. Clarify diagnosis and risk for aortic aneurysms/dissection
  2. Target medical management and prevention of aortic aneurysms/dissection and other complications
  3. Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it
  4. Reduce healthcare costs, resources, and anxiety for families

When To Consider Testing

  • Patient is clinically suspected to have MFS, Marfan syndrome-related disorders, or familial TAAD
  • For differential diagnosis and carrier testing of individuals with a family history, but no concrete diagnosis

Mutation Distribution and Detection Rates

Up to 93% of patients with Marfan syndrome have a mutation in the FBN1 gene.1 >95% of patients with EDS type IV have a mutation in the COL3A1 gene.2 30-40% of patients with familial TAAD have a mutation in one of the TAADNext genes (clinical sensitivity).3  Many of these genes have very recently been identified, so this detection rate may increase as studies continue.  TAADNext can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

TAADNext includes 22 genes associated with familial TAAD, Marfan syndrome (MFS), or Marfan syndrome-related disorders (listed earlier).  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Suspect variant calls are verified by Sanger sequencing.4  This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions.  Gross deletion/duplication analysis for all genes is performed utilizing a targeted chromosomal microarray (excluding CBS, COL5A1 and FLNA).  



1. Korkko J, et al. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. J Med Genet. 2002;39:34–41.

2. Pepin MG and Byers PH. Ehlers-Danlos Syndrome Type IV. 1999 Sep 2 [Updated 2011 May 3]. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.

3. Milewicz DM and Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13 Updated 2012 Jan 12. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.

4. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

 

 

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