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GeneSeq®: Cardio Familial Aortopathy Profile
This test covers all coding nucleotides of six genes: ACTA2, COL3A1, FBN1, MYH11, TGFBR1, TGFBR2, plus at least two and typically 10 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 10 flanking nucleotides in the 5′ and 3′ UTR.
Confirm a clinical diagnosis of Aortopathy and identify presymptomatic family members, guiding prophylactic measures.
This analysis does not rule out germline mosaicism, the presence of large chromosomal aberrations (including deletions, insertions, and rearrangements), mutations in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeled specimens, or erroneous representation of family relationships.
Mutation analysis is performed using the Agilent Sure Select XT® enrichment method and the Illumina® next-generation sequencing platform. Regions of interest include all exons and splice junctions for each gene and limited regions for the following: SHOC2 (exon 2), APOB (556bp of exon 26), and AKAP9 (exon 18). Sequencing reads are aligned with the hg19 build of the human genome reference sequence. Analytical sensitivity is based on the depth of coverage across the regions of interest and is provided separately for each gene. Greater than 98% of target bases are synonymous variants not previously recorded at ≥20x coverage. Sanger sequencing is used to confirm mutation identity and analyze regions with low coverage. Variants are reported using numbering and nomenclature recommended by the Human Genome Variation Society (HGVS). Variants known to be benign and synonymous variants not previously recorded in our internal variant data bases are not reported.
Aortopathy is characterized by aortic dilation, which can lead to life-threatening aneurysms and/or dissections. Thoracic aortic aneurysm and dissection (TAAD) may be seen in the context of several multisystem syndromes with overlapping symptoms, such as Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), and vascular-type Ehlers-Danlos syndromes (vt-EDS), but it can also occur in isolation. The genetic mutations responsible for syndromic forms of aortopathy and TAAD are known. They typically show autosomal dominant inheritance; however, a family history may not always be clear, since type, severity, and age of onset of symptoms can vary even within families. In addition, MFS, vt-EDS, and LDS may be caused by de novo mutations.
Genetic testing for familial aortopathy may:
• Confirm a clinical diagnosis of Marfan syndrome, Loeys-Dietz syndrome, vascular-type Ehlers-Danlos syndrome, or TAAD.
• Identify close relatives of an index patient who carry the mutation and are thus at high risk for TAAD and may require continual screening and lifestyle adjustments.
• In some cases, predict the severity of disease based on the exact mutation found.
10 mL whole blood or 30 mL if ordering multiple tests
Maintain specimen at room temperature.
Causes for Rejection
Frozen specimen; container broken or leaking; container not labeled or label not legible; improper anticoagulant
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form (Consent for Genetic Testing) in Related Documents. Please call customer service at 866-647-0735 before submitting specimens for family testing (ie, known mutations).
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|451432||GeneSeq: Familial Aortopathy||451331||Specimen Type:||31208-2|
|451432||GeneSeq: Familial Aortopathy||451417||Results:||48003-8|
|451432||GeneSeq: Familial Aortopathy||451429||Key Findings||53037-8|
|451432||GeneSeq: Familial Aortopathy||451431||Additional Information||49549-9|
|451432||GeneSeq: Familial Aortopathy||451433||Gene Information||51968-6|
|451432||GeneSeq: Familial Aortopathy||451434||Tech Spec Results||51958-7|
|451432||GeneSeq: Familial Aortopathy||451435||Seq Variants Detected||69548-6|
|451432||GeneSeq: Familial Aortopathy||451409||Disclaimer||N/A|
|451432||GeneSeq: Familial Aortopathy||451436||Director Review:||48672-0|
|451432||GeneSeq: Familial Aortopathy||451437||51969-4|