Metabolic

The Alpha-Mannosidosis Genetic Testing Program offers no-charge genetic testing through GeneDx for US patients with a clinical suspicion of alpha-mannosidosis. Testing uses GeneDx's GenomeDx whole genome sequencing, focused on the MAN2B1 gene. The program is sponsored by Chiesi Group, which covers all testing costs for eligible patients.

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.

The GACI Genetic Testing Program offers no-charge ultra-rapid whole genome sequencing through GeneDx for US infants under 12 months with imaging evidence of arterial calcification suspicious for Generalized Arterial Calcification of Infancy (GACI). Testing uses GeneDx's GenomeDx ultraRapid (uRGS) — key genes ENPP1 and ABCC6, whole-genome coverage — with results in as soon as 48 hours. The program is sponsored by BioMarin at no cost to the patient.

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.

The NPC Detect program offers no-charge genetic testing through GeneDx for US patients with a clinical suspicion of Niemann-Pick disease type C (NPC). Testing uses GeneDx's ExomeDx (proband) whole exome sequencing (key genes NPC1, NPC2), with results as soon as 2 weeks. The program is fully sponsored by Zevra Therapeutics — no insurance claim and no cost to the patient.

NPC GenomeComplete is a no-charge genetic testing program sponsored by Beren Therapeutics P.B.C. in partnership with GeneDx, for U.S. patients age 15 or younger with a clinical suspicion of Niemann-Pick disease type C (NPC). Testing uses GeneDx's GenomeDx whole genome sequencing (proband, with duo or trio testing available), covering the NPC1 and NPC2 genes along with the rest of the genome; a rapid pathway can return preliminary results in about 5 days, with final results in about 2 weeks for children in rapid neurological decline. No insurance is required and no claim is submitted to the patient's insurance, and post-test genetic counseling is available at no charge through GeneDx's genetic counseling team.

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 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.