Is Genetic Hypopara on your radar?
26 genes tested
No-charge genetic testing and counseling for nonsurgical hypoparathyroidism. Get your eligible patients tested.
Order test kitThis website is intended for US Healthcare Professionals only.
ICD-10 code for autosomal dominant hypocalcemia
Code E20.8 has been expanded to include subcategory E20.81 (hypoparathyroidism due to impaired PTH secretion), with specific code E20.810 to identify autosomal dominant hypocalcemia type 1 or type 2.
Over 20% of nonsurgical hypoparathyroidism cases may be due to CASR variants, which can cause ADH11,2
This no-charge program examines variants in 26 genes associated with hypoparathyroidism, including CASR.
ADH1 disease overview
Caused by gain-of-function CASR variants2
Autosomal dominant inheritance2
Most common genetic cause of isolated nonsurgical hypoparathyrodism2
Clinical features
In ADH1, calcium-sensing receptor (CaSR) sensitivity is increased, causing lower-than-normal blood calcium levels to be perceived as physiologically normal.3
Patients with ADH1 experience decreased PTH secretion from the parathyroid glands and diminished calcium reabsorption in the kidneys.3 They often present with both hypocalcemia and hypercalciuria.2,3 High calcium levels in urine can be intensified by calcium and/or active vitamin D supplementation.2 Symptom onset and severity can be highly variable.3
Urinary monitoring is recommended at a minimum of every 3–6 months to avoid long-term renal complications.4,5 More frequent monitoring (eg, weekly or every other week) may be needed when initiating treatment.6
Why test?
Genetic testing is the only way to confirm a genetic hypoparathyroidism diagnosis
Accurate diagnosis of genetic hypoparathyroidism is essential to support:3,7
More frequent monitoring, with the goal of minimizing renal complications to improve prognosis
Identification of potentially affected relatives
Potential eligibility for participation in clinical trials
Guidelines recommend genetic testing of all nonsurgical hypoparathyroidism patients with:8
<40 years of age
Family history of nonsurgical hypoparathyroidism
Syndromic features at presentation
What's involved?
Testing through PreventionGenetics
CAP-/CLIA-accredited clinical DNA testing laboratory
Multiple options for sample collection
Whole blood, saliva, or buccal specimens
Comprehensive 26-gene panel
ACADM, AIRE, ATP1A1, CASR, CHD7, CLDN16, CLDN19, CNNM2, DHCR7, EGF, FAM111A, FXYD2, GATA3, GCM2, GNA11, HADHA, HADHB, KCNA1, NEBL, PTH, SEMA3E, SLC12A3, SOX3, TBCE, TBX1, TRPM6
No-charge genetic counseling
Support your patients in understanding their genetic hypoparathyroidism test results and identifying family members that may be affected.
Who is eligible?
To be eligible for genetic hypoparathyroidism testing through
patients must reside in the US and meet at least one of the following criteria:
Diagnosis of nonsurgical hypoparathyroidism
Diagnosis of idiopathic hypoparathyroidism
Diagnosis of hypocalcemia suspected to be of genetic cause
Relative diagnosed with genetic hypoparathyroidism
Determine if your patient meets the eligibility criteria and discuss the test
Order the test kit
Flexible delivery options to the ordering provider or patient
Receive the test kit, collect the specimen as directed, and mail in
Receive the results
Typically delivered to the ordering provider in 3 weeks
Connect your patient with genetic counseling
Pre- and post-test counseling provided at no charge
References
1. BridgeBio. Data on File.
2. Roszko KL, et al. Front Physiol. 2016;7:458.
3. Roszko KL, et al. J Bone Miner Res. 2022;37(10):1926-1935.
4. Lienhardt A, et al. J Clin Endocrinol Metab. 2001;86(11):5313-5323.
5. Khan AA, et al. Eur J Endocrinol. 2019;180(3):P1-P22.
6. Bollerslev J, et al. Eur J Endocrinol. 2015;173(2):G1-20.
7. Mannstadt M, et al. J Bone Miner Res. 2022;37(12):2615-2629.
8. Khan AA, et al. J Bone Miner Res. 2022;37(12):2568-2585.