Neurology

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.

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.

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 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.

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.

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.

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 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

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.

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 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.

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.

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.