Hereditary Angioedema

Hereditary angioedema (HAE), also known as C1 inhibitor (C1-INH) deficiency, causes subcutaneous and submucosal edema in the skin, respiratory and gastrointestinal tracts. Genetic analysis can provide confirmation of a clinical diagnosis of HAE. Once a mutation is identified in a patient, testing of other family members can help identify carriers before the appearance of clinical symptoms.

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Test Code 2746
Turnaround Time (TAT) 2-4 weeks
Number of Genes 1
Specimen Requirements Click here

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Mutation Detection Rate

This test can detect >99.9% of described mutations in SERPING1, when present (analytic sensitivity).

Test Description

Our HAE genetic testing includes next generation sequencing (NGS) and deletion/duplication analysis of the SERPING1 gene. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. Additional Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection.

Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing. This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed via multiplex ligation probe amplification (MLPA, MRC Holland).

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