Many people with Hereditary Alpha Tryptasemia Syndrome, or HATS, have struggled through years of doctors, specialists, tests, and medications already. Determining whether one has multiple copies of the TPSAB1 gene has become easier since 2018.
1) Have your primary care physician or specialist take the tryptase test: sample, LabCorp (though this site does not recommend any particular source). This requires a blood draw.
2) If the test results indicates a tryptase count (wild type or mature) of 7.5 or higher (i.e., "rounds up to 8"), you may have Hereditary Alpha Tryptasemia (Lyons 2019). To confirm this genetically, have your primary care physician or specialist submit your results to Gene by Gene. While this site does not make any recommendations for/against this company, as of July 2019, they are the only company we're aware of that performs this specialized genetic test. It is under $200, and at time of publication, is not covered by insurance.
3) If your test results indicate you have have more than 4 copies of a combination of alpha &/or beta TPSAB1, you may want to contact the NIH. The following research studies are occasionally open to HATS patients:
09-I-0086 - Screening Protocol for Genetic Diseases of Allergic Inflammation
10-I-0148 - Natural History of Atopic Dermatitis and Other Genetic/Congenital Diseases Associated with Allergic Inflammation
Lyons, Jonathan. (2019.) San Mateo: The Mastocytosis Society Annual Conference.
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