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GeneSeq®: Cardio Familial Congenital Heart Disease Profile
This test covers all coding nucleotides of 4 genes: GATA4, NKX2.5, TBX5, and CHD7; 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 Congenital Heart Disease 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 the 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.
Affecting more than 1 in 1000 live births, atrial septal defects (ASDs) account for about 10% of cases of congenital heart disease. In some individuals with ASDs, a positive family history for that disorder or other congenital heart malformations exists. Genetic mutations associated with ASDs could be a major cause of familial cases.
Genetic testing for the presence of a germline mutation in the genes known to be associated with ASDs may:
• Confirm a diagnosis of familial ASDs
• Assist with clinical management of ASDs
• Facilitate identification of at-risk individuals in affected families
CHARGE is an acronym for the hallmark characteristics of a congenital syndrome that affects about 1 in 10,000 births worldwide. Given the complexities of CHARGE syndrome, genetic testing may help to:
• Confirm a diagnosis
• Differentiate CHARGE syndrome from other multiple malformation syndromes such as 22q11.2 deletion syndrome and VACTERL association.
10 mL whole blood or 30 mL if ordering multiple tests
Yellow-top (ACD) tube or lavender-top (EDTA) tube
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. Please call customer service at 866-647-0735 before submitting specimens for family testing.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|451402||GeneSeq: Congenital Heart Dise||451331||Specimen Type:||31208-2|
|451402||GeneSeq: Congenital Heart Dise||451421||Results:||48003-8|
|451402||GeneSeq: Congenital Heart Dise||451776||Key Findings||53037-8|
|451402||GeneSeq: Congenital Heart Dise||451777||Additional Information||49549-9|
|451402||GeneSeq: Congenital Heart Dise||451778||Gene Information||51968-6|
|451402||GeneSeq: Congenital Heart Dise||451779||Tech Spec Results||51958-7|
|451402||GeneSeq: Congenital Heart Dise||451781||Seq Variants Detected||69548-6|
|451402||GeneSeq: Congenital Heart Dise||451409||Disclaimer||N/A|
|451402||GeneSeq: Congenital Heart Dise||451782||Director Review:||48672-0|
|451402||GeneSeq: Congenital Heart Dise||451783||51969-4|