Neurology

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.

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.

Autism Answers: SHANK3 Inform is a genetic testing program from GeneDx, in partnership with Jaguar Gene Therapy, for U.S. patients with clinical suspicion of Phelan-McDermid syndrome (PMS) or SHANK3-related autism spectrum disorder. Testing uses GeneDx's ExomeDx whole exome sequencing (proband, with duo or trio options); if the proband's exome is non-diagnostic, genome sequencing can be offered. The test is billed to insurance first, and Jaguar covers the cost of exome testing for patients with Medicare or Medicare Advantage and when commercial insurance coverage is unavailable, so cost is less likely to stand in the way of a diagnosis. Because a molecular diagnosis of PMS is defined by SHANK3 haploinsufficiency, the exome (with deletion/duplication analysis) is analyzed with SHANK3 as the gene of primary interest, while still able to identify other genetic causes of developmental delay or ASD.

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 argenx Congenital Myasthenic Syndromes (CMS) Sponsored Testing Program offers no-cost genetic testing through Invitae (Labcorp Genetics) for US patients with a clinical suspicion of a congenital myasthenic syndrome. Testing uses the Invitae Congenital Myasthenic Syndrome Panel, a 21-gene NGS panel, with results in about 14 days. The program is sponsored by argenx and includes no-cost genetic counseling.

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 Epilepsy Answers Partnership Program provides GeneDx ExomeDx whole exome sequencing for U.S. patients under 18 who had their first unprovoked seizure before age 8. Unlike programs where the sponsor pays the full cost upfront, this is a reimbursement-assurance program: the test is billed to insurance as usual, and the pharmaceutical partners cover the cost when insurance denies the exome claim or the patient is uninsured. Because the test is billed to the payer first, existing reimbursement pathways are unaffected, and providers can enroll all eligible patients, including those with coverage. The program is co-sponsored by Biogen, Praxis Precision Medicines, and Stoke Therapeutics, includes post-test genetic counseling support, and requires consent to the program's mandatory data-sharing practices.

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 Mission: Genome – Danon Disease Program offers no-charge genetic testing through Ambry Genetics for US-based patients age 40 or younger with a clinical suspicion of Danon disease or an inherited cardiomyopathy. Testing uses Ambry's CardioNext®, a 92-gene cardiomyopathy and arrhythmia panel that includes LAMP2. The program is sponsored by Rocket Pharma and includes no-charge genetic counseling for eligible patients and families.

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.

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.

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.