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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Akcea

No-Cost Genetic Testing Program for Familial Chylomicronemia Syndrome (FCS)

In partnership with Akcea Therapeutics, 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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Deep Genomics

No-Cost Genetic Testing Program for Wilson Disease

In partnership with Deep Genomics, this program provides no-cost genetic testing of the ATP7B gene for Wilson Disease (WD), a genetic condition in which excess copper builds up in the body. This no charge testing is available for patients with a clinical diagnosis of Wilson disease and is being offered to US and Canadian residents who meet testing eligibility criteria. The test must be ordered by a qualified healthcare provider.

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Inozyme Pharma

No-Cost Genetic Testing Program for Rare Calcification Disorders

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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Modis Therapeutics

No-Cost Genetic Testing Program for Thymidine Kinase 2 Deficiency

In partnership with Modis Therapeutics, this No-Cost Genetic Testing Program is available to individuals with a suspected or clinical diagnosis of Thymidine Kinase 2 Deficiency (TK2d), a mitochondrial DNA depletion disorder. TK2d is a rare, underdiagnosed, and often fatal genetic disorder, which can present at any age, from infancy to adulthood.

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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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Rhythm Pharmaceuticals

No-cost Sponsored Testing Program for Rare Genetic Disorders of Obesity

Uncovering Rare Obesity is a program sponsored by Rhythm Pharmaceuticals. The sponsored genetic testing program includes a 40 gene panel of different genes potentially associated with several rare genetic disorders of obesity. Tests can only be ordered by licensed US healthcare providers for their US-resident patients. The goal of Uncovering Rare Obesity is to expand access to genetic testing for individuals who may have a rare genetic disorder of obesity.

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