DetectHypopara™ Sponsored Testing

No-cost testing for ADH1 & Hypoparathyroidism

Program Overview

In partnership with Prevention Genetics, this program was created to learn more about the genetic causes of ADH1 & hypoparathyroidism and support clinical management so that individuals and their providers can make more informed decisions about their health.


Genetic forms of hypoparathyroidism include disorders of parathyroid gland formation, parathyroid hormone secretion, and parathyroid gland damage.1–3

Test Criteria

The patient must reside in the U.S. or Canada and meet any one of the following criteria:

  • Has a diagnosis of non-surgical hypoparathyroidism
  • Has a diagnosis of idiopathic hypoparathyroidism
  • Has a diagnosis of hypocalcemia suspected to be of genetic cause
  • Has a relative with a diagnosis of genetic hypoparathyroidism

Order or schedule a no-cost test

  1. At-home test

    Order a no-cost test kit to your location; return by mail after completion.

    Order a test kit

  2. On-demand test

    Request no-cost, on-demand mobile genetic testing and sample collection.

    Schedule a visit

Genetic Panel Included

  • Disorders of parathyroid gland formation

    can be inherited in:

    • Autosomal dominant (TBX1, NEBL, SEMAE3, CHD7, GATA3, FAM111A, GCM2)
    • Autosomal recessive (TBCE, HADHA, HADHB, ACADM, DHCR7, GCM2)
    • X-linked manner (SOX3)

  • Disorders of parathyroid hormone secretion

    can be inherited in:

    • Autosomal dominant (CASR, GNA11, PTH, FXYD2, CNNM2, ATP1A1, KCNA1)
    • Autosomal recessive manner (PTH, TRPM6, CLDN16, EGF, CLDN19, CNNM2, SLC12A3)

Test Specifications

Reportable Range

PGxome® platform: Capture and amplification based Next Generation Sequencing (NGS) is used to sequence the coding regions of nearly all genes and immediate flanking non-coding DNA (± 10 bp) in all available transcripts along with other non-coding regions harboring known disease-causing variants. Results are filtered to defined genes in panel. Reportable variants include both sequence variants and NGS-based detection of copy number variants (CNVs).4,5

All variants within the analyzed genes which are classified as pathogenic, likely pathogenic, risk, or variant of uncertain significance will be reported.

  1. PreventionGenetics. Test Methods. PreventionGenetics, part of Exact Sciences.

  2. PreventionGenetics. Complement Deficiencies Panel. PreventionGenetics, part of Exact Sciences. (Language consistent across all PGxome panel pages.)

Performance

The analytical sensitivity of the PGxome platform has been validated at >99% for single nucleotide variants, >95% for indels <49 bp, and >99% for CNV ≥3 exons in size. Sensitivity is reduced in regions with repetitive elements or paralogy.5,6

BridgeBio

Genetic Testing Tour Summer ‘26

Because answers shouldn't depend on access, we will be coming to you, making stops all along the west coast. Washington. Oregon. California. Arizona.


Our tour will focus on providing genetic testing kits to test for ADH1 and non-surgical Hypoparathyroidism.


Want us to come to your community? We will be adding stops along the way, so don’t hesitate to let us know.

Contact Us
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Learn more about 
genetic testing

Explore the NSGC, CDC & NIH for general information and genetic testing resources.

References