Skip to content
  • Argentina
  • Brazil
  • Canada
  • Chile
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
  • Country/Region
    • Clinic Portal
      • +0034963905310
    • Request Information
    • +34 96 390 53 10
    • Part of brands: |
    InternationalInternational
    • Country/Region
      • Part of brands: |
      • We guide you
        • Fertility
          • What to do if…
        • Prevent Inherited Diseases
          • Carrier Genetic Test
        • Worry-free Pregnancy
          • NACE
          • Prenatal Diagnostics
          • Newborn Health
      • Reproductive Health
        • Specialists
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • POC
          • SAT
          • Newborn Screening
        • Patients
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • SAT
          • POC
      • Diagnostics
      • About us
        • Igenomix Research
        • About Igenomix
        • Igenomix Worldwide
      • Academy
      • Blog
      Genomics Precision Diagnostic > Metabolic Precision Panel

      Metabolic Precision Panel

      Diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype.

      Panels

      Glycogen Storage Diseases  Precision Panel

      Glycogen Storage Diseases (GSD) are a group of inherited disorders that result from errors of glycogen metabolism caused by mutations in genes that code for enzymes involved in glycogen synthesis and degradation.

      More Information

      Methylmalonic Aciduria Precision Panel

      Methylmalonic Aciduria/Acidemia (MMA) is an autosomal recessive disorder of the amino acid metabolism with a defect localized in the conversion of methylmalonyl-coenzyme A (CoA) into succinyl-CoA.

      More Information

      Organic Acidemias/Acidurias  Precision Panel

      Organic Acidemias/Acidurias (Organic Acid Disorders, OADs) are an important group of inherited metabolic disorders that share a defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. 

      More Information

      Congenital Disorders of Glycosylation Precision Panel

      Congenital Disorders of Glycosylation (CDG) are a group of rapidly expanding metabolic disorders that arise due to abnormal protein or lipid glycosylation. There are difficulties trying to diagnose them because they broadly affect many organs and functions, demonstrating a clinical heterogeneity. 

      More Information

      Lysosomal Storage Diseases Precision Panel

      Lysosomal Storage Diseases (LSD) are a group of dozens of inherited disorders that result from the accumulation of undigested or partially processed macromolecules inside organelles called lysosomes.

      More Information

      Glycine Encephalopathy Precision Panel

      Glycine encephalopathy, also known as autosomal recessive nonketotic hyperglycinemia is caused by mutations in the genes encoding components of the glycine cleavage system. It is caused by mutations in the glycine transporter 1 (GLYT1). 

      More Information

      Leigh Syndrome and Mitochondrial Encephalopathy Precision Panel

      Leigh syndrome (subacute necrotizing encephalomyelopathy) is a severe neurological disorder that generally presents in infancy or early childhood, although it can appear during late childhood and even adulthood.

      More Information

      Urea Cycle Disorder Precision Panel

      The Urea Cycle is the metabolic pathway that transforms nitrogen from peripheral (muscle) and enteral sources (protein ingestion) into urea that is water soluble and can be excreted. 

      More Information

      Fatty Acid Oxidation Disorders Precision Panel

      Fatty Acid Oxidation Disorders (FAODs) are inborn errors of metabolism resulting in failure of mitochondrial beta-oxidation or the carnitine-based transport of fatty acids into the mitochondria. Fatty acid oxidation takes place in the mitochondria and provides a major source of energy, especially during prolonged fasting and sub-maximal exercise. 

      More Information

      Lipodystrophy Precision Panel

      Lipodystrophy is a congenital or acquired disorder characterized by either complete or partial lack of adipose tissue. In some of these disorders, there is also the apparent accumulation of fat in other regions of the body. The primary defect is the loss of functional adipocytes, leading to ectopic steatosis, insulin resistance and severe dyslipidemia. 

      More Information

      BROCHURE

      Download

      Request Information


      WE GUIDE YOU

      Fertility
      Inherited diseases prevention
      Healthy pregnancy

      To see the accreditation certificate, associated technical annex and list of accredited tests, click on this link.

      OUR SERVICES

      Genetic solutions
      For patients
      How to send a sample?
      User manual

      ABOUT US

      About Igenomix
      Contact
      Quality
      Complaints
      Work with us

      FOLLOW IGENOMIX

        + 96 390 53 10
        Write us
      • Argentina
      • Brazil
      • Canada
      • Chile
      • Colombia
      • Europe
      • France
      • Germany
      • India
      • Italy
      • Japan
      • Korea
      • Mexico
      • Perú
      • Russia
      • Spain
      • Taiwan
      • The Middle East
      • Turkey
      • United Kingdom
      • United States
      • Vietnam
      Country/Region

      [2021] © Igenomix Privacy policy Quality policy Legal note Cookies policyNews and Press

      Request Information

















      • We guide you
        • Fertility
          • What to do if…
        • Prevent Inherited Diseases
          • Carrier Genetic Test
        • Worry-free Pregnancy
          • NACE
          • Prenatal Diagnostics
          • Newborn Health
      • Reproductive Health
        • Specialists
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • POC
          • SAT
          • Newborn Screening
        • Patients
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • SAT
          • POC
      • Diagnostics
      • About us
        • Igenomix Research
        • About Igenomix
        • Igenomix Worldwide
      • Academy
      • Blog
      • Country/Region
      • +34 96 390 53 10
      • Clinic Portal
      • Request Information

      We are using cookies to give you the best experience on our website.

      You can find out more about which cookies we are using or switch them off in settings.

      International
      Powered by  GDPR Cookie Compliance
      Privacy Overview

      This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.

      Strictly Necessary Cookies

      Strictly Necessary Cookie should be enabled at all times so that we can save your preferences for cookie settings.

      If you disable this cookie, we will not be able to save your preferences. This means that every time you visit this website you will need to enable or disable cookies again.

      3rd Party Cookies

      This website uses Google Analytics to collect anonymous information such as the number of visitors to the site, and the most popular pages.

      Keeping this cookie enabled helps us to improve our website.

      Please enable Strictly Necessary Cookies first so that we can save your preferences!

      Cookie Policy

      More information about our Cookie Policy