This Inozyme Pharma–sponsored program offers no-cost testing for ENPP1 and ABCC6, genes associated with GACI type 1 and later manifestations such as ARHR2 or PXE. Genetic confirmation supports diagnosis, management decisions, and assessment of family risk.
The Alnylam Act® program offers complimentary 45-gene panel testing and genetic counseling for patients with suspected PH1 or a relevant family history (covering AGXT, GRHPR, HOGA1 and additional nephrolithiasis-associated genes). This expanded panel aids you in distinguishing PH1 from related conditions, supporting diagnosis, management pathways and family screening. All services are provided at no charge to the patient, provider or payer.
The Alnylam Act® program offers complimentary gene‐panel testing and genetic counseling for patients with suspected PH1 (AGXT, GRHPR, HOGA1). The program supports you in confirming diagnosis, guiding patient care and referral, and facilitating family risk assessment. All testing and counseling services are provided at no cost to patients, providers, or payers.
This sponsored program offers complimentary TTR gene testing and genetic counseling for eligible patients with suspected hereditary ATTR (hATTR) amyloidosis. It enables you to confirm or rule out the diagnosis, facilitate family risk assessment, and align patient management accordingly. All services are provided at no cost to the patient, provider, or payer.
The Alnylam Act® program supports eligible patients in the U.S. and Canada with no-cost access to genetic testing and counseling for acute hepatic porphyria (AHP), facilitating diagnostic clarity in this rare metabolic condition. Services are delivered by independent third-party providers and governed under a strict policy of de-identified data sharing for research purposes.
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.
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.
Decode Duchenne provides sponsored, no-cost diagnostic testing for suspected Duchenne/Becker muscular dystrophy in patients residing in the U.S. or Canada. The program is administered with Parent Project Muscular Dystrophy and performed by Revvity Omics; industry partners (e.g., Sarepta and others) provide support. Order per clinical presentation; genetic counseling resources are available.
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.
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.
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 Renasight™ testing for eligible patients of African ancestry with chronic kidney disease. It supports early identification of APOL1 risk variants associated with APOL1-mediated kidney disease (AMKD). Providers can use results to inform diagnosis, guide management decisions, and determine whether genetic factors may underlie renal decline.
This program provides no-charge hereditary cancer testing for patients at increased risk for ovarian or gynecologic cancers, as well as other related hereditary cancer syndromes. Eligible patients receive an at-home saliva collection kit processed by Color Health. Results include access to certified genetic counselors, supporting clinical decision-making and risk assessment.
The NovoDETECT program provides clinicians in the US with access to a sponsored genetic test for patients suspected of primary hyperoxaluria (PH). The panel covers major PH-related genes and may clarify diagnosis when clinical or biochemical signs (stones, nephrocalcinosis, elevated oxalate) suggest PH. Results support patient counseling, guide care decisions, and enable genetic counseling — at no cost to patient or provider.
The Discover Dysplasias™ program provides sponsored genetic testing and counseling for patients 16 years or younger with suspected skeletal dysplasia. Given the strong genetic basis of most dysplasias, this no-charge panel helps shorten the path to diagnosis by detecting many of the most frequent genetic contributors. Faster confirmation may support earlier, disease-specific evaluation and management planning.
The SMA Identified program offers sponsored testing to assist in diagnosing SMA or determining carrier status, with three panel options available to match patient needs. Genetic confirmation is often required before initiating therapy, and the program helps streamline that process. Biogen funds the program but never receives identifiable patient data from testing.
The Detect Muscular Dystrophy Program offers sponsored, no-charge genetic testing and post-test counseling for patients with suspected Duchenne muscular dystrophy, limb-girdle muscular dystrophy, or related neuromuscular disorders. The program is designed to improve access to diagnostic testing, reduce delays in identifying disease etiology, and support clinicians with information that can guide treatment planning and patient counseling.
The Behind the Seizure® program provides no-charge access to Invitae’s comprehensive epilepsy panel for children under 10 with unprovoked seizure onset between ages 2–5. The panel evaluates 300+ epilepsy-related genes that can influence management decisions. Early genetic insights may support faster diagnosis, targeted treatment planning, and improved care coordination.
The ALS Identified Program enables clinicians in the US and Puerto Rico to access a broad genetic test for patients with diagnosed or familial ALS, at no cost. This program supports diagnostic clarity, helps inform prognosis and care planning, and can facilitate family counseling or trial eligibility. All costs are covered — there is no charge to the patient, provider, or payer.
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.
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 navigateAPDS Program provides clinicians in the US, Canada, and Puerto Rico with free, comprehensive genetic testing for patients clinically suspected of APDS. By analyzing relevant immune genes (PIK3CD, PIK3R1) via Invitae’s PID / Inborn-Immunity panels, the program helps clarify diagnosis, guide immunological management, and support long-term care planning. Free post-test genetic counseling is included for all tested patients.
This program offers no-charge comprehensive genetic testing for patients in the US or Canada with suspected inherited cholestatic liver disease. The Invitae Cholestasis Panel evaluates key genes associated with PFIC, ALGS, and other cholestatic disorders. Clinicians receive actionable results, and patients are eligible for complimentary post-test genetic counseling.
The Mission: Genome – Danon Disease Program offers no-charge Invitae testing for US-based patients with clinical suspicion of Danon disease. Testing includes LAMP2 as part of the Invitae Arrhythmia and Cardiomyopathy Panel. Eligible patients also receive no-charge post-test genetic counseling to support result interpretation and follow-up care.
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 offers U.S. clinicians access to comprehensive genetic testing for patients with suspected inherited retinal diseases, including RP, CRD, LCA, Stargardt disease, and other IRDs. Testing is also appropriate for asymptomatic individuals with a family history of IRD or a known pathogenic variant in a relevant gene, supporting diagnosis, risk assessment, and patient management.
This program provides access to genetic testing for pediatric patients under 18 who present with an unprovoked seizure. The panel evaluates key epilepsy-associated genes to support diagnostic confirmation, inform prognosis, and guide clinical management. Testing is available to eligible patients when ordered by a licensed healthcare provider.
Invitae Unlock Immunology offers sponsored access to the Inborn Errors of Immunity and Cytopenias Panel, Invitae’s most comprehensive assay for evaluating inherited immune disorders and cytopenias. The panel includes genes tied to combined immunodeficiencies, immune dysregulation, and bone marrow failure, supporting clearer diagnosis and management. U.S. providers may order for eligible patients.
Invitae Unlock™ Immunology provides clinicians with a comprehensive gene panel to evaluate patients with suspected primary immunodeficiency or immune-regulatory disorders. This no-charge program supports diagnostic clarification, aids in variant-guided care decisions, and can inform family cascade testing when appropriate.
The Invitae Unlock™ Cardiomyopathy & Arrhythmia program offers no-charge genetic testing for U.S. patients with suspected inherited cardiomyopathy or arrhythmia. The comprehensive panel supports diagnostic clarification, risk assessment, and family variant identification. Eligible patients may access testing at no cost when ordered by a qualified healthcare provider.
The Uncovering Periodic Paralysis Program offers no-cost genetic testing and genetic counseling for individuals with episodic muscle weakness or temporary paralysis often triggered by common factors associated with primary hyperkalemic or hypokalemic periodic paralysis. This testing program is sponsored by Xeris Pharmaceuticals.
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 single-gene TK2 testing for U.S. patients with clinical signs suggestive of TK2 deficiency. Providers can order testing, request blood-collection kits, and submit samples to PreventionGenetics. Results are typically available in about 21 days, supporting diagnosis, prognosis, and care decisions for neuromuscular mitochondrial disorders.
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.
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.
This program provides no-cost access to a 66-gene panel for U.S. patients aged 18 months to 35 years with current or historical idiopathic bilateral cataracts. The test evaluates key cataract, connexin, crystallin, developmental, and metabolic genes to support diagnosis and management, including early detection of CTX. Providers assess eligibility and oversee ordering, specimen collection, and result interpretation.
This program provides complimentary genetic testing for U.S. patients with current or historical cholestasis, unexplained chronic liver disease, or clinical features suggestive of inherited bile acid or hepatobiliary disorders. The panel includes key cholestasis and PFIC-related genes and supports diagnosis, management, and familial variant clarification. Eligibility excludes extrahepatic causes and TPN-associated cholestasis.
This program provides complimentary genetic testing for patients in the U.S. and Puerto Rico with clinical features suggestive of epidermolysis bullosa. Testing supports confirmation of EB subtype and identification of pathogenic variants across relevant skin fragility genes. Asymptomatic relatives are eligible for familial testing, provided no prior clinical EB genetic testing has been performed.
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.
In collaboration with Ionis Pharmaceuticals, this program offers genetic testing for amyotrophic lateral sclerosis (ALS), a neurodegenerative condition involving motor neuron degeneration in the cortex, brain stem, and spinal cord. Testing is available to eligible patients in the U.S. and Canada with a clinical diagnosis or family history of ALS. All tests must be ordered by a qualified healthcare provider.
Sponsored by Inozyme Pharma, this program offers global, no-cost genetic testing for the ABCC6 gene linked to PXE. Testing is available for patients who meet program eligibility criteria and must be ordered by a qualified health care provider.
This program offers no-cost 110-gene panel testing for patients with a clinically confirmed inherited retinal disease (IRD). Testing supports molecular diagnosis, guides management decisions, and helps identify individuals who may qualify for targeted therapies or clinical research. Eligible patients must enroll through the Program workflow and complete all required consent and HIPAA documentation.
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.
Sponsored by Biogen, this program offers no-cost genetic testing for Friedreich ataxia (FA) to support diagnosis and evaluation of patients with suspected or confirmed FA. Testing is available for individuals ≥16 years residing in the U.S. or Puerto Rico and must be ordered by a qualified provider.
The NeuroNavigATTR program offers no-cost TTR gene testing for adult U.S. patients with neuropathy or autonomic dysfunction where hATTR is part of the differential diagnosis. Neuropathic ATTR involves peripheral and autonomic nerve involvement and may mimic other hereditary or acquired neuropathies. Genetic testing helps distinguish hATTR polyneuropathy from other neuropathies and from wild-type ATTR cardiomyopathy. Testing for eligible patients
The CardioNavigATTR program is a no-charge genetic testing initiative for adult U.S. patients meeting specific criteria who are at risk for hATTR or cardiomyopathy. It offers a 36-gene cardiomyopathy panel (including TTR) to support diagnostic investigation, guide clinical decision-making, and identify hereditary risk in the cardiology setting.
This sponsored program provides no-cost genetic testing for adult U.S. patients with a family history of hATTR, positive PYP or biopsy findings, or red-flag symptoms concerning for hATTR. Testing includes TTR gene analysis to support diagnostic evaluation, risk assessment, and clinical decision-making in patients with suspected hereditary transthyretin amyloidosis.
The Amplify™ program offers no-cost genetic testing for eligible patients with a diagnosis of auditory neuropathy, helping to identify known genetic contributors and support clinical decision-making. Only de-identified data may be shared with program partners, which can inform prevalence insights and therapeutic research.
The Resonate™ program offers no-cost genetic testing for patients with sensorineural hearing loss or auditory neuropathy to support identification of genetic etiologies and inform management. De-identified data from the program may contribute to prevalence insights and therapeutic development initiatives.
