Hereditary Angiodema
Hereditary angioedema (HAE) is a rare disease typically caused by a SERPING1 gene mutation. This protein is responsible for coding for the protein C1-INH. With improper levels of C1-INH, HAE patients experience swelling attacks throughout their body. These attacks can be unpredictable and can significantly impact patients’ quality of life.
However, some HAE patients don’t actually have a SERPING1 mutation. Likewise, these patients have normal levels of C1-INH. The vast majority of HAE patients who fit this criteria actually have a F12 gene mutation. This is rare even within this rare population. As you might imagine, this segment of the population often struggles even more with receiving the right diagnosis. Not only may they have to wait longer to learn what they have, they often face higher financial burdens in the process.
A New Study
Researchers wanted to see whether a different form of testing could indicate mutations in the F12 gene faster. Specifically, they examined a method called allelic discrimination. Essentially, this method utilizes a probe. This probe will only bind to the patients’ DNA if the DNA has the F12 mutation.
The research team utilized this method as well as traditional Sanger sequencing to confirm the results.
184 individuals who had a family history of HAE participated in this study. Their median age was 35 and the majority were female.
The test indicated that 96 of the patients had the F12 mutation and the Sanger sequencing confirmed the findings.
This study was published in The Journal of Allergy and Clinical Immunology: In Practice.
Let’s Talk Cost
Utilizing allelic discrimination for one patient costs 91.08 dollars. This method takes six hours to complete. Traditional Sanger sequencing costs 496.69 dollars per patient and takes an average of 38 and a half hours.
Essentially, utilizing allelic discrimination would reduce costs by 82%. Additionally it would decrease time of completion of the test by 84%, giving patients answers sooner.
The Outcome
The results of this study could be big news for families with an HAE history.
If individuals are suspected to have HAE but do not have abnormal C1-INH levels, doctors can now recommend allelic discrimination first. Of course, if these tests are inconclusive, the team could turn to the Sanger method. But if the tests are conclusive, they would have saved the patient a lot of time, money, and stress.
Perhaps best of all, the allelic discrimination method can be adapted to test for other gene mutations. That means it could potentially be utilized for other illnesses and rare conditions.
You can read more about this study here.
