Endocrinology

Genetic and specialty testing programs for endocrine, metabolic, and hormone-related conditions

Endocrinology conditions+

Endocrinology includes sponsored testing programs that offer no-cost or low-cost access to genetic and specialty testing for thyroid disorders, metabolic diseases, adrenal conditions, and other endocrine-related health issues. These programs help identify hereditary and acquired causes of endocrine dysfunction, guide more precise management decisions, and connect patients and clinicians with available sponsored testing options focused on endocrine and metabolic health.

7 programs found in Endocrinology

Programs

7 programs
DetectHypopara™
Sponsored by
Calcilytix Therapeutics

Hypoparathyroidism Panel

The DetectHypopara™ program offers no-charge 26-gene panel testing for U.S. or Canadian patients with non-surgical or idiopathic hypoparathyroidism, hypocalcemia of suspected genetic origin, or a family history of genetic hypoparathyroidism.

Endocrinology
Verified program

Familial Chylomicronemia Syndrome (FCS)

Sponsored by
Ionis Pharmaceuticals

Familial Chylomicronemia Panel

This program offers complimentary genetic testing for patients in the U.S. or Canada with severe refractory hypertriglyceridemia, defined as two or more fasting triglyceride levels >880 mg/dL (10 mmol/L) without secondary causes. Testing evaluates genetic contributors to FCS and related disorders, enabling more accurate diagnosis of persistent sHTG. Pre- and post-test genetic counseling through Genome Medical is included at no cost.

Endocrinology
FCS Seek
Sponsored by
Arrowhead Pharmaceuticals

FCSNext

Sponsored, no-charge FCSNext panel for suspected monogenic hypertriglyceridemia/FCS (e.g., extreme TGs, recurrent pancreatitis, early onset, therapy-refractory). Order through Ambry; clinical report supports diagnosis, management decisions, and cascade testing of at-risk relatives.

Endocrinology

Hypophosphatemia

Sponsored by
Kyowa Kirin Inc.

Kyowa Kirin Sponsored Hypophosphatemia 13 Gene Panel

This program offers no-charge genetic testing and counseling for patients in the US and Canada who may have XLH or TIO and meet age and eligibility criteria. It aims to improve diagnostic accuracy, reduce time to confirmation, and support payer coverage needs. No patients, providers, or payers are billed, and program use does not require recommending or prescribing any Kyowa Kirin therapy.

Endocrinology
Scout
Sponsored by
Mirum Pharmaceuticals

X-ALD Newborn Screening Reflex Panel

This no-cost testing program supports U.S. patients with a positive state newborn screen for X-ALD or relatives of PBD-ZSD–positive patients previously tested at PreventionGenetics. Testing must be ordered by a qualified healthcare provider. The program is designed to aid timely diagnosis and inform patient management.

Endocrinology

Uncovering Rare Obesity™

Sponsored by
Rhythm Pharmaceuticals

Uncovering Rare Obesity Gene Pane

This program provides no-cost genetic testing for patients in the U.S. and Canada with early-onset or severe obesity or features suggesting a monogenic or syndromic cause. The 87-gene panel includes key leptin–melanocortin pathway and Bardet–Biedl syndrome genes, with kits and testing costs covered by the sponsor.

Endocrinology
UncoverT1D
Sponsored by
Sanofi

Early Stage Type 1 Diabetes Initial Screen

Uncover T1D is a sponsored, no-cost program supporting early identification of autoimmune Type 1 diabetes via a DBS immunoassay panel for GAD65, IA-2, ZnT8, and insulin autoantibodies, with reflex to individual antibody identification when appropriate. Performed by Revvity Omics, the program is ordered at clinician discretion and may include confirmatory or follow-up testing as clinically indicated.

Endocrinology