CustomNext-TAAD

CustomNext-TAAD is a gene sequencing and deletion/duplication panel that analyzes up to 22 genes of your choosing associated with thoracic aortic aneurysms and dissections (TAAD), Marfan syndrome, or related disorders. 

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CustomNext-TAAD is a gene sequencing and deletion/duplication panel that analyzes up to 22 genes of your choosing associated with thoracic aortic aneurysms and dissections (TAAD), Marfan syndrome, or related disorders. 

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Ambry utilizes next generation sequencing (NGS) and deletion/duplication analyses (deletion/duplication for all genes except CBS, COL5A1, FLNA, SMAD4, and TGFB3) to offer CustomNext-TAAD, a customizable hereditary cardiovascular panel of up to 22 genes. Gene options for this panel include any combination of genes included in the TAADNext test: ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2, TGFB3.

 

Disease Name 
Arterial tortuosity syndrome
Congenital contractural arachnodactyly (CCA or Beals syndrome)
Homocystinuria caused by cystathionine beta-synthase deficiency
Ehlers-Danlos syndrome, vascular type (EDS IV)
Ehlers-Danlos syndrome, classic type (EDS I and II)
Juvenile polyposis/Hereditary hemorrhagic telangiectasia syndrome (JPHT)
Loeys-Dietz syndrome, types 1-5
Lujan-Fryns syndrome
Marfan syndrome (MFS)
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and dissection (TAAD)
X-linked periventricular nodular heterotopia, EDS variant
Disease Information 

CustomNext-TAAD Gene Options:

CustomNext-TAAD has 22 genes to choose from, including all genes on the TAADNext panel.  For more detailed information about any of these 22 genes and mutation detection rates, click here.

Testing Benefits & Indication 

CustomNext-TAAD may be appropriate to consider in the following situations, combined with clinician discretion:

  • Clarify diagnosis and risk for aortic aneurysms/dissection
  • Target medical management and prevention of aortic aneurysms/dissection and other complications
  • Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it
  • Reduce healthcare costs, resources, and anxiety for families
  • Indicated in patients who are clinically suspected to have MFS, Marfan syndrome-related disorders, or familial TAAD
  • May also be considered for differential diagnosis and carrier testing for individuals with a family history, but no concrete diagnosis
  • Your patient's complex personal and and/or family history requires a unique panel of genes to assess (not found in an existing panel)
  • You/your patient would like to learn about fewer genes than those currently found on existing panels
  • You/your patient would like to learn about more genes than those currently found on existing panels
Test Description 

CustomNext-TAAD analyzes up to 22 genes (listed above) selected by the healthcare provider that are associated with familial TAAD, Marfan syndrome (MFS), or Marfan syndrome-related disorders. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). All selected genes are evaluated by NGS or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Suspect variant calls other than those classified as "likely benign" or "benign" are verified by Sanger sequencing. Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all ordered genes (excluding CBS, COL5A1, FLNA, SMAD4, and TGFB3) utilizing a targeted chromosomal microarray.

Mutation Detection Rate 

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 genes found on the TAADNext panel, which includes the same gene options as CustomNext-TAAD (clinical sensitivity).3 Many of these genes have very recently been identified, so this detection rate may increase as studies continue. CustomNext-TAAD can detect >99.9% of described sequencing and deletion/duplication mutations in the included genes listed above, when present (analytic sensitivity).

Specimen Requirements 

Complete specimen requirements are available here or by downloading the PDF found above on this page.

Prenatal testing is not available. Ambry’s prior approval is not required to test minors with a clinical suspicion or family history of TAAD.

Turnaround Time 
TEST CODE TEST NAME TURNAROUND TIME
9525 CustomNext-TAAD 2-4 weeks

 

Specialty 
Genes 
ACTA2
CBS
COL3A1
COL5A1
COL5A2
FBN1
FBN2
FLNA
MED12
MYH11
MYLK
NOTCH1
PLOD1
PRKG1
SKI
SLC2A10
SMAD3
TGFB2
TGFBR1
TGFBR2
SMAD4
TGFB3
Tests 
References 
  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.