Genetic Diagnostics

The Virant Diagnostics Genetic Laboratory uses advanced science and technology to develop genomic testing solutions, with a focus on improving the sensitivity, specificity, and clinical utility of rare disease diagnostics.

We use a proprietary bioinformatics pipeline supported by current, relevant scientific and clinical data to analyze genetic test results with accuracy and clinical context. With advanced laboratory equipment and deep scientific knowledge, we provide high-quality molecular diagnostic testing designed to support accurate diagnosis and informed patient care.

Angioedema Genetic Testing

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling that may affect the skin, gastrointestinal tract, and upper airway. Genetic variants associated with HAE may result in C1 inhibitor deficiency or dysfunction, while other forms of hereditary angioedema can occur with normal C1 inhibitor levels and function.

Virant Diagnostics offers individual gene testing, multigene panels, and expanded genetic testing options to support clinician-directed evaluation of patients with suspected hereditary or recurrent angioedema. Genetic testing may be particularly helpful for patients with a family history of angioedema or clinical findings suggestive of an inherited disorder.

Visit the Angioedema Genetic Testing page for available testing options and additional details.

Mast Cell Disorder Genetic Testing

Mast cells play an important role in allergic and inflammatory responses. When activated, they release inflammatory mediators, including tryptase. Persistently elevated tryptase levels may raise concern for systemic mastocytosis, hereditary alpha tryptasemia, or other mast cell-related disorders.

Visit our Mast Cell Disorder Genetic Testing page for available testing options and additional details.

Systemic Mastocytosis 

Systemic mastocytosis is a rare hematologic disorder characterized by abnormal growth and accumulation of clonal mast cells in multiple organs, most commonly the bone marrow. Many cases of systemic mastocytosis are associated with an acquired genetic variant in the KIT gene, most often KIT D816V.

Virant Diagnostics offers sensitive molecular testing to help detect disease-associated KIT variants that may support the evaluation of suspected systemic mastocytosis. Results should be interpreted together with clinical history, serum tryptase level, bone marrow or pathology findings when available, and other relevant laboratory data.

Hereditary Alpha-Tryptasemia 

Hereditary alpha-tryptasemia is a common autosomal dominant genetic trait caused by increased germline copy numbers of the TPSAB1 gene, which encodes alpha-tryptase.

Virant Diagnostics offers genetic testing for hereditary alpha-tryptasemia to support clinician-directed evaluation of patients with elevated baseline tryptase, recurrent allergy-like symptoms, suspected mast cell-related disease, or a family history suggestive of inherited elevated tryptase. Results should be interpreted together with clinical history, serum tryptase level, family history, physical findings, and other relevant laboratory or pathology results.

Research & Publications

  • Wetherby K, et al. Highly Sensitive Digital PCR Assay to Detect KIT D816V Mutation in Suspected Mastocytosis Patients. Ann Allergy Asthma Immunol. 2023 Nov 131(5) Suppl, S31-32. 
  • Chiao J, et al. Patterns of Genetic Testing For Systemic Mastocytosis and Hereditary Alpha Tryptasemia Among Allergists: Retrospective Study. Ann Allergy Asthma Immunol. 2024 Nov 133(6) Suppl, S22. 
  • Faulkner E, et al. Normal Serum Tryptase Levels Can Be Associated with TPSAB1 Mutation In Hereditary Alpha Tryptasemia Patients. Journal Allergy Clin Immunology. 2025;155(2): Suppl, AB173.

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