Panel Description Test Description Resource

Panel Description

Diseases Targeted:
Thoracic Aortic Aneurysm and Dissection
Marfan Syndrome
Overview:
The Marfan and Thoracic Aortic Aneurysm and Dissection Panel examines 31 genes associated with Marfan Syndrome or familial thoracic aortic aneurysm and dissection (TAAD).

Who is this test for?
Patients with a personal and/or family history suggestive of Marfan Syndrome or TAAD. Marfan syndrome is a disorder that primarily affects the connective tissue and can involve vision problems due to dislocated lens in one or both eyes, as well as defects of the aorta (aneurysm and/or dissection). Red flags for TAAD can include, but are not limited to, weakened and stretched aorta (aortic dilation), bulging of the blood vessel walls (aneurysm), and/or tearing of the aorta wall layers (aortic dissection).

What are the potential benefits for my patient?
Patients identified with Marfan syndrome can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include curative and prophylactic surgeries, lifestyle changes, and medications like beta blockers and/or antihypertensive agents. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

Patients identified with TAAD can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include curative and prophylactic surgeries, lifestyle changes, and medications like beta blockers and/or antihypertensive agents. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

Test Description

Order Options:
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
Turnaround Time:
3-5 weeks
Cost:
Call for details
Genes:
ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLNA, FOXE3, HCN4, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2 ( 33 genes )
Coverage:
96% at 20x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test Limitations:
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Resource

– Dietz, H.C., Marfan Syndrome. 2001 Apr 18 [Updated 2017 Feb 2]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle (1993-2017)
Milewicz, D.M., Regalado, E. Heritable Thoracic Aortic Disease Overview. 2003 Feb 13 [Updated 2016 Dec 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle (1993-2017)