No-Cost Genetic Testing for Fabry Disease - The AAKP Fabry Disease Diagnostic Testing and Education Project
In partnership with the American Association of Kidney Patients (AAKP) and Emory University, this program provides complimentary Clinical DNA testing for this rare genetic disease can help patients receive an early diagnosis and access to treatment. This AAKP program is supported by educational donations from Amicus Therapeutics and Sanofi-Genzyme, Inc.
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No-Cost Genetic Testing Program for Friedreich Ataxia (FA)
Sponsored by Biogen, this program provides no-cost genetic testing for Friedreich ataxia(FA), a neurodegenerative disease characterized by progressive ataxia (ataxic gait and limbs), dysarthria, dysphagia, decreased proprioception, distal muscle weakness, peripheral sensory neuropathy, absent lower limb tendon reflexes, spasticity, scoliosis, pes cavus, and hypertrophic cardiomyopathy. No-cost FA testing is available for patients 16 years of age or older, suspected of or have a clinical diagnosis of FA, and be a resident of the United States or Puerto Rico. The test must be ordered by a qualified healthcare provider.
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DetectHypopara™ Sponsored Testing Program
In partnership with Calcilytix Therapeutics, this program provides physicians with access to no-cost genetic testing for patients, who have a clinical diagnosis of non-surgical hypoparathyroidism or hypocalcemia suspected to be of genetic cause, or meet other eligibility criteria for testing. This program is available for patients and providers in the US & Canada.
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Amplify™ Sponsored Testing Program
In partnership with Decibel Therapeutics, Amplify™ is a no-charge genetic testing program for children diagnosed with auditory neuropathy. Amplify™ strives to remove barriers to genetic diagnosis for patients born with auditory neuropathy.
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No-Cost Genetic Testing Program for Rare Calcification Disorders
ENPP1 and ABCC6 Deficiencies
This program sponsored by Inozyme Pharma offers global, no-cost genetic testing for the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) and ATP binding cassette subfamily C member 6 (ABCC6) genes. These genes are implicated in two rare, severe, debilitating calcification disorders: ENPP1 Deficiency and ABCC6 Deficiency. Both these disorders can manifest as generalized arterial calcification of infancy (GACI) type 1 in infancy and then autosomal recessive hypophosphatemic rickets type 2 (ARHR2) in the case of ENPP1 Deficiency or Pseudoxanthoma elasticum (PXE) in the case of ABCC6 Deficiency post infancy.
More InformationABCC6 Deficiency Only
This program sponsored by Inozyme Pharma offers global, no-cost genetic testing for the ABCC6 gene associated with Pseudoxanthoma Elasticum (PXE). This no charge testing is being offered to patients who meet testing eligibility criteria and must be ordered by a qualified healthcare provider.
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No-Cost Genetic Testing Program for Amyotrophic Lateral Sclerosis (ALS)
In partnership with Ionis Pharmaceuticals, this program provides no-cost genetic testing for amyotrophic lateral sclerosis (ALS), a neurodegenerative disease characterized by motor neuron impairment in the cortex, brain stem, and spinal cord. No-cost ALS testing is available for patients with a clinical diagnosis or family history of ALS and is being offered to residents of the U.S. and Canada who meet testing eligibility criteria. The test must be ordered by a qualified healthcare provider.
More InformationNo-Cost Genetic Testing Program for Familial Chylomicronemia Syndrome (FCS)
In partnership with Ionis Pharmaceuticals, this program provides no-cost genetic testing for familial chylomicronemia syndrome (FCS), a genetic condition which is characterized by high plasma triglyceride levels resulting from improper breakdown of chylomicron lipoproteins by the LPL enzyme. No-cost FCS testing is available for patients with a clinical diagnosis of FCS and is being offered to residents of the US and Canada who meet testing eligibility criteria. The test must be ordered by a qualified healthcare professional.
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Decode DEB Sponsored Testing Program
In partnership with Krystal Biotech, Inc., this program offers no-charge genetic testing for patients with suspected dystrophic epidermolysis bullosa (DEB) and qualifying family members of patients diagnosed with DEB. This program is available to patients in the United States, including Puerto Rico.
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No-Cost Patient Genetic Testing Program for Cholestasis
Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to help identify the genetic cause of cholestasis through a 77-gene panel. This program is available to US resident who meet eligibility criteria and must be ordered by a qualified healthcare provider.
More InformationBehind the Blur: No-Cost Patient Genetic Testing Program for Early-Onset Bilateral Cataracts
Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to help identify the genetic cause of early onset, often bilateral, cataracts through a 66-gene panel. This program is available for patients in the US who meet eligibility criteria and must be ordered by a qualified healthcare provider.
More InformationNo-Cost Patient Testing Program for Peroxisome Biogenesis Disorder - Zellweger Spectrum Disorder (PBD-ZSD)
Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD) through a 13-gene panel. This program is available for patients in the US who meet eligibility criteria and must be ordered by a qualified healthcare provider.
More InformationNo-Cost Genetic Testing Program for States Initiating Newborn Screening for X-linked Adrenoleukodystrophy (X-ALD)
Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD) and other disorders within the states offering X-ALD newborn screening programs. Testing will be offered to children who screened positive for X-ALD on initial state newborn screen but negative for the disease after further evaluation.
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Frontotemporal Dementia Sponsored Testing Program
In partnership with Passage Bio, this program provides physicians access to no-cost genetic testing for patients, who are suspected of having frontotemporal dementia (FTD), a clinically heterogeneous syndrome due to the progressive degeneration and atrophy of various regions of the frontal and temporal lobes of the brain.
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No-charge Sponsored Testing Program for Rare Genetic Diseases of Obesity
This program is sponsored by Rhythm Pharmaceuticals and is intended to expand access to genetic testing for individuals with a rare genetic disease of obesity. The test sequences 79 genes associated with rare genetic diseases of obesity. Tests may only be ordered by licensed US or Canadian healthcare providers and patients must reside in the United States, its territories, or Canada.
More InformationPOMC/PCSK1/LEPR Companion Diagnostic (CDx) Panel
This test is a companion diagnostic device intended to select adult and pediatric patients 6 years of age and older who have obesity and certain variants in POMC, PCSK1, or LEPR genes for treatment with IMCIVREE® (setmelanotide) in accordance with the approved therapeutic product labeling.
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No-Cost Genetic Testing Program for Thymidine Kinase 2 Deficiency
In partnership with UCB, this No-Cost Genetic Testing Program is available to individuals with a suspected or clinical diagnosis of Thymidine Kinase 2 Deficiency (TK2d) is a rare, inherited, and debilitating myopathic mitochondrial disease that is often fatal and can present at any age. It is a mitochondrial DNA depletion disorder.
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