Metabolic

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.

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.

The Detect Lysosomal Storage Diseases Program provides no-charge genetic testing for patients in the US or Canada when an LSD is suspected. Eligible patients may present with clinical features, abnormal enzyme studies, positive newborn screens, or relevant family history. Testing through Invitae’s LSD panel can help confirm diagnosis and guide management.

This program gives clinicians in the US and Canada access to a comprehensive FAOD gene panel at no cost for patients with suspected LC-FAOD. The Invitae Fatty Acid Oxidation Defects Panel covers a broad set of genes involved in long-chain fatty acid transport and β-oxidation. The program supports diagnostic confirmation, personalized management, and appropriate follow-up for FAOD. There is no billing to patients, providers, or payers.

Ultragenyx’s no-cost MPS pathway supports evaluation of suspected MPS I, II, IIIB, IVA, IVB, VI, and VII via an enzyme panel with reflex molecular testing as appropriate. Performed by Revvity Omics, the program is intended for symptomatic or NBS-flagged patients and is not designed for carrier screening.

Roadmap2Rare (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.

Roadmap2Rare (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.

Roadmap2Rare (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.

Roadmap2Rare (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.

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.

This program provides no-cost access to genetic testing for U.S. patients with confirmed or suspected PBD-ZSD. The panel evaluates core PEX genes associated with peroxisome biogenesis disorders and supports diagnosis, management, and assessment of disease severity. Providers assess eligibility, coordinate specimen collection and shipping, and review both genetic and reflex biochemical results.

The Lantern Project provides sponsored genetic testing for patients with suspected lysosomal storage diseases (LSDs). LSDs are multisystem disorders caused by impaired lysosomal function and often present with overlapping features. This program supports timely diagnosis by offering testing options for major conditions including Gaucher, Fabry, Pompe, and multiple MPS subtypes.

This program offers no-cost access to a 55-gene panel for patients with symptoms that may indicate TK2 deficiency (TK2d), mitochondrial DNA depletion syndromes (MDS), or LGMD-like presentations with unclear etiology. Because TK2d can clinically overlap with both MDS and LGMD, this broader panel supports efficient evaluation across these disorders. Testing is available at no cost for eligible U.S. patients.

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.