AAKP

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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Aeglea

No-Cost Genetic Testing Program for Arginase 1 Deficiency (ARG1-D)

In partnership with Aeglea BioTherapeutics, this program provides physicians access to genetic testing for patients with persistently elevated plasma arginine and progressively worsening neuromotor, functional and developmental manifestations. Through this program individuals with a non-differential or undiagnosed neuromotor disorder are one step closer to prompt intervention. The program is open to eligible US residents. All testing must be ordered by a qualified healthcare provider

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Inozyme Pharma

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.

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ABCC6 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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Ionis

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.

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No-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 provider.

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Rhythm Pharmaceuticals

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.

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POMC/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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Travere

No-Cost Patient Genetic Testing Program for Cholestasis

In partnership with PreventionGenetics, Travere offers a no-cost genetic testing program for qualifying patients to help identify the genetic cause of cholestasis through a 77-gene panel. This no charge testing is being offered to US residents who meet testing eligibility criteria and must be ordered by a qualified healthcare provider.

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Behind the Blur: No-Cost Patient Genetic Testing Program for Early-Onset Bilateral Cataracts

In partnership with PreventionGenetics, Travere offers a no-cost genetic testing program for qualifying patients to help identify the genetic cause of early onset, often bilateral, cataracts through a 66-gene panel. This no charge testing is being offered to US residents who meet testing eligibility criteria and must be ordered by a qualified healthcare provider.

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No-Cost Patient Testing Program for Peroxisome Biogenesis Disorder - Zellweger Spectrum Disorder (PBD-ZSD)

In partnership with Travere, Inc., this no-cost genetic testing program is available for qualifying patients to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD), a rare autosomal recessive disorder caused by mutations in one of 13 PEX genes and characterized by an impaired peroxisome assembly, leading to multiple enzyme deficiencies. Peroxisomal dysfunction affects nearly all cells of the body from fetal development throughout adult life. Common clinical features of PBD-ZSD likely include vision, hearing, nervous system, and liver/growth impairment.

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No-Cost Genetic Testing Program for States Initiating Newborn Screening for X-linked Adrenoleukodystrophy (X-ALD)

Travere has partnered with PreventionGenetics to offer a no-cost genetic testing program to qualifying patients to help identify 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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Zogenix

No-Cost Genetic Testing Program for Thymidine Kinase 2 Deficiency

In partnership with Zogenix, 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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