Aortic Dysfunction/Dilation & Related Disorders NGS Panel

Test Information

This panel of 20 genes is intended for patients with a diagnosis or clinical suspicion of aortic dysfunction or dilation and related disorders, and is performed by Next Generation Sequencing (NGS).

Turnaround Time

8 weeks

CPT Code(s)





  • ACTA2
  • CBS
  • COL1A1
  • COL3A1
  • COL5A1
  • COL5A2
  • ELN
  • FBLN5
  • FBN1
  • FBN2
  • MYH11
  • MYLK
  • NOTCH1
  • PLOD1
  • SKI
  • SLC2A10
  • SMAD3
  • TGFB2
  • TGFBR1
  • TGFBR2

Clinical Information

This panel consists of 20 genes that have been associated with syndromic and non-syndromic forms of thoracic aortic aneurysm and dissection (TAAD). Complications from these disorders can occur at any age, and the presentation can be extremely variable. Inheritance is most often autosomal dominant with incomplete penetrance, but some forms of familial TAAD appear to follow an autosomal recessive pattern. Syndromic conditions that include the potential for aortic dysfunction include the following: Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, congenital contractural arachnodactyly, Shprintzen-Goldberg syndrome, and arterial tortuosity syndrome. In addition to cardiovascular findings, skeletal manifestations are common, while craniofacial changes may or may not be present. Non-syndromic familial thoracic aortic aneurysm exhibits heterogeneity, and not all causative genes have been identified. Medical surveillance and intervention ranging from medication, routine imaging studies, and surgical correction is critical to reduce the incidence of serious or fatal cardiovascular complications.


For patients with a specific suspected disorder, individual gene sequencing should be considered first. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.


Next Generation Sequencing


The current design of the aortic dysfunction or dilation panel covers the coding region for all 20 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts. We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution microarray.

Specimen Requirements

The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered....

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