If you're living with non-surgical hypoparathyroidism, unexplained hypoparathyroidism or low blood calcium that may have a genetic cause, this genetic testing and counseling may be for you.
Eligible patients can talk with a genetic counselor by phone and complete an at-home genetic test at no charge to you.
Get started
Understanding ADH1, A Genetic Cause of Hypoparathyroidism
Hypoparathyroidism is a condition in which the parathyroid glands produce too little parathyroid hormone resulting in low calcium levels in the blood (hypocalcemia). 1,2
Most cases follow neck or thyroid surgery. When there is no surgical explanation, the cause may be genetic. The most common genetic form of unexplained hypoparathyroidism is autosomal dominant hypocalcemia type 1 (ADH1), which results from gain-of-function changes (variants) in the CASR gene. Other inherited forms exist as well. 1,2
Symptoms such as muscle spasms, tingling in the hands and feet, numbness around the mouth, fatigue, trouble concentrating, kidney stones, and seizures overlap with many other conditions, so people often go years without a clear answer. 1,2
To help patients and families find that answer, DNAvisit has partnered with BridgeBio, to offer specialized, no-charge genetic testing and counseling.
About No-Charge Genetic Testing & Counseling
Eligible individuals receive access to expert clinical guidance and high-quality genetic testing at no charge, including education about the genetic causes of hypoparathyroidism and low blood calcium (hypocalcemia).
- Learn if there is a specific genetic explanation for your condition that may help inform your care
- Understand what your test results mean for you based on the most current scientific information
- Share findings with your healthcare provider to help guide your next steps
There is no charge to you. Genetic counseling, test ordering, and the test itself are covered by the sponsor. You are not required to provide insurance information, and your insurance will not be billed.
Everything is done from home. Your genetic counseling appointments happen by phone, your sample collection kit arrives in the mail, and your results are delivered to you. There is no on-site clinic visit and no travel at any point.
You may be eligible if you:
Live in the United States
Have any one of the following criteria:
- A diagnosis of non-surgical or unexplained hypoparathyroidism, or
- Low blood calcium (hypocalcemia) with a suspected genetic cause, or
- A relative diagnosed with ADH1 or genetic hypoparathyroidism, or
- Diagnosis of ADH1
Are a parent/ legal guardian of a child/ someone meeting the above criteria (if you are submitting on behalf of a child or someone else)
How It Works: If You’re Eligible, What Happens Next with DNAvisit
Everything happens from home. Appointments are typically available within a week and are delivered by phone.
1
Pre-Test Genetic Consultation
Meet with a certified genetic counselor by phone to review your personal and family history, confirm eligibility, and discuss the benefits and limitations of testing.
2
Physician-Led Ordering
If you’re eligible and choose to move forward, DNAvisit’s Physician of Record will coordinate the ordering of your no-charge genetic test.
3
Sample Collection & Testing
A cheek swab kit (also known as a buccal swab kit) will be sent to you along with instructions on how to collect your sample by mouth. Use the prepaid and addressed envelope to return your sample. It can take ~2-4 weeks to receive your results once the lab receives your sample.
4
Results & Follow-Up
Review your results by phone with a genetic counselor and receive a written summary you can share with your healthcare provider.
Resources
If a genetic cause is identified, your genetic counselor will walk you through what it means and point you toward support.
- HypoPARAthyroidism Association (HPA) - Patient advocacy, education, and a community of people living with hypoparathyroidism.
- Clinical Management Information - Current treatment approaches and clinical trial resources relevant to genetic hypoparathyroidism and ADH1.
- Family Testing Guidance - Help understanding what a result may mean for parents, siblings, and children, and how to share it with them.
