Hypoparathyroidism is a condition characterized by insufficient production of parathyroid hormone (PTH) by the parathyroid glands, leading to low levels of calcium in the blood, a condition known as hypocalcemia. PTH plays a vital role in regulating calcium levels, so its deficiency results in inadequate calcium absorption from the intestines and kidneys and reduced calcium release from bones. This leads to symptoms such as muscle cramps or spasms (tetany), tingling or numbness in the fingers and toes, fatigue, and, in severe cases, cardiac arrhythmias or seizures.
Genetic testing plays a significant role in diagnosing and managing hypoparathyroidism, particularly when the condition is suspected to be inherited or part of a genetic syndrome. Identifying specific genetic mutations through testing can confirm the diagnosis of hereditary forms of hypoparathyroidism, such as those associated with DiGeorge syndrome, autosomal dominant hypocalcemia, or other genetic disorders affecting parathyroid gland development and function. Genetic testing helps differentiate between isolated hypoparathyroidism and syndromic forms, guiding appropriate treatment and management. Additionally, it provides valuable information for genetic counseling, enabling affected individuals and their families to understand the inheritance patterns, potential risks for future offspring, and implications for other family members. Early and accurate genetic diagnosis allows for better-tailored treatment plans and monitoring strategies to prevent complications and improve patient outcomes.
What is the Program?
In partnership with Calcilytix Therapeutics, the DetectHypopara program provides physicians with access to no-cost genetic testing for patients, who have a clinical diagnosis of non-surgical hypoparathyroidism or hypocalcemia suspected to be of genetic cause, or meet other eligibility criteria for testing. This program is available for patients and providers in the US & Canada.
The patient must reside in the US or Canada and meet any one of the following criteria:
Collect a specimen in the collection tube. For information on ordering specimen kits, see Specimen Collection and Shipping section.
Program Information
The DetectHypoPara program is a sponsored genetic testing initiative aimed at identifying genetic causes of hypoparathyroidism. It provides comprehensive genetic screening to individuals showing symptoms or having a diagnosis of hypoparathyroidism, to confirm the diagnosis and understand the genetic underpinnings.
This program is designed for individuals diagnosed with hypoparathyroidism or those exhibiting symptoms consistent with this condition. A referral from a healthcare provider is necessary to qualify for the testing.
The program offers genetic tests that include sequencing of specific genes known to be associated with hypoparathyroidism. These tests can detect mutations that may lead to the condition, helping in confirming the diagnosis and guiding treatment decisions.
Healthcare providers can enroll patients by submitting an application that includes the patient’s medical history, symptoms, previous test results, and a signed consent form. The program requires detailed clinical information to ensure that genetic testing is appropriate for the patient.
Participants in the DetectHypoPara program can gain a deeper understanding of the genetic factors contributing to their condition. This insight can help in managing the disease more effectively through personalized treatment plans and can also inform family members about their potential risk.
Results from genetic testing are typically available within a few weeks after the laboratory receives the sample. Participants and their healthcare providers will be notified as soon as the results are ready, along with any relevant genetic counseling.
BridgeBio is a team of experienced drug discoverers, developers and innovators working to create life-altering medicines that target well-characterized genetic diseases at their source. BridgeBio was founded in 2015 to identify and advance transformative medicines to treat patients who suffer from Mendelian diseases, which are diseases that arise from defects in a single gene, and cancers with clear genetic drivers. BridgeBio’s pipeline of over 20 development programs includes product candidates ranging from early discovery to late-stage development. For more information, please visit www.bridgebio.com.
