Pharm&Access Expands Collaboration with 3billion: Launch of Genetic Testing for Rare Diseases

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Pharm&Access is pleased to announce the next phase of our partnership with the international genetic laboratory 3billion. As part of this collaboration, we are launching diagnostic services for a range of rare hereditary diseases, aiming to improve early detection and accurate diagnosis for patients in the Republic of Kazakhstan.

Starting from June 2025, 3billion will conduct genetic testing for the following conditions:

  • Epidermolysis Bullosa
  • Lipodystrophy
  • Homozygous Familial Hypercholesterolemia
  • Nephropathic Cystinosis
  • Porphyria
  • Homocystinuria
  • Organic Acidemias
  • Leber Hereditary Optic Neuropathy (LHON)

    • The testing utilizes advanced next-generation sequencing (NGS) technologies, capable of identifying even the rarest genetic mutations with high accuracy. All test results include clinical interpretation and recommendations, making them a valuable tool for medical geneticists, pediatricians, nephrologists, endocrinologists, ophthalmologists, and other healthcare professionals. We believe that expanding access to genetic diagnostics in collaboration with 3billion is a major step toward advancing personalized medicine in Kazakhstan. For more information about the tests, conditions, and patient referral process, please contact our team.

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