Low calcium. Low parathyroid hormone (PTH). These clues can point to something deeper. When surgery isn’t the cause, genetic testing can help confirm an ADH1 diagnosis and provide clarity. Watch for the signs; test to confirm.

Suspect & Detect ADH1

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Autosomal dominant hypocalcemia type 1 (ADH1) is a rare genetic condition characterized by low blood calcium caused by gain-of-function variants in the calcium-sensing receptor gene (CASR)1,2

Genetic Testing

Without genetic testing, ADH1 cannot be reliably distinguished from other causes of hypoparathyroidism. No-cost genetic testing is available to help confirm a suspected diagnosis.

Understanding ADH1 at a glance

Explore the key characteristics, clinical impact, and diagnostic importance of this rare genetic condition.

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Impact of disease

Because ADH1 is rare, patients often receive an incomplete diagnosis that may lead to1:

  • Years of ineffective management
  • Increased risk of serious kidney damage
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Importance of genetic testing

Accurate, genetic confirmation of ADH1 is vital to1:

  • Inform disease management
  • Identify family members who may also be affected
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Living with ADH1

Explore patient journeys to diagnosis and the impact of ADH1 on their lives.

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Stay ahead of emerging ADH1 data

Get timely updates on clinical trials, research, and treatment approaches for ADH1—delivered straight to your inbox.

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References: 1. Roszko KL, Stapleton Smith LM, Sridhar AV, et al. Autosomal dominant hypocalcemia type 1: a systematic review. J Bone Miner Res. 2022;37(10):1926-1935. 2. Mannstadt M, Cianferotti L, Gafni RI, et al. Hypoparathyroidism: genetics and diagnosis. J Bone Miner Res. 2022;37(12):2615-2629.