Metabolic Genetic Testing

Understand & Manage Inherited Metabolic Disorders

Personalized Insights for Better Metabolic Health
Metabolic disorders affect the way the body processes nutrients, leading to problems with energy production, digestion, and overall health. Many metabolic conditions are inherited, making genetic testing a crucial tool for early diagnosis, targeted treatments, and proactive health management. Metabolic genetic testing helps identify enzyme deficiencies, metabolic imbalances, and inherited disorders that can impact lifelong well-being.

Why Choose Metabolic Genetic Testing?

  • Early Detection: Identify genetic risks for metabolic disorders before symptoms worsen.
  • Personalized Treatment Plans: Tailored solutions for enzyme deficiencies, energy disorders, and nutrient processing issues.
  • Family Health Insights: Understand hereditary risks and help family members take preventive steps.
  • Improved Quality of Life: Manage metabolic health effectively and enjoy a healthier, more energetic life.

Who Should Consider Metabolic Testing?

  • Individuals with a family history of metabolic disorders like PKU, Gaucher disease, or mitochondrial disorders.
  • People experiencing unexplained fatigue, developmental delays, or failure to thrive.
  • Those diagnosed with abnormal newborn screening results or metabolic imbalances.
  • Patients with symptoms like low blood sugar, muscle weakness, or organ dysfunction.
  • Anyone seeking to understand their genetic risks and take proactive steps for metabolic health.

Common Metabolic Conditions We Address

  • Aicardi-Goutières Syndrome Panel
  • Coenzyme q10 Deficiency Panel
  • Comprehensive Metabolism Panel
  • Congenital and Familial Lipodystrophy Panel
  • Congenital Disorders of Glycosylation Panel
  • Congenital Mono- and Disaccharide Disorders Panel
  • Creatine Metabolism Deficiency Panel
  • Cystinuria Panel
  • Fatty Acid Oxidation Syndrome Panel
  • Glycogen Storage Disorder Panel
  • Hereditary Hemochromatosis Panel
  • Homocystinuria Core Panel
  • Hyperammonemia and Urea Cycle Disorder Panel
  • Hyperphenylalaninemia Panel
  • Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel
  • Hypomagnesemia Panel
  • Lysosomal Disorders and Mucopolysaccharidosis Panel
  • Metabolic Liver Failure Panel
  • Metabolic Myopathy and Rhabdomyolysis Panel
  • Mitochondrial DNA Depletion Syndrome Panel
  • Monogenic Obesity Panel
  • Nephrolithiasis Panel
  • Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel
  • Organic Acidemia/Aciduria & Cobalamin Deficiency Panel
  • Periodic Paralysis Panel
  • Peroxisomal Disorders Panel
  • Porphyria Panel
  • Purine and Pyrimidine Metabolism Disorders Panel
  • Tyrosinemia Panel

Comprehensive Gene Tested List

A4GALT, A4GNT, AAAS, AADAC, AADACL2, AAGAB, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCA10, ABCA12, ABCA13, ABCA2, ABCA3, ABCA4, ABCA5, ABCA7, ABCB1, ABCB11, ABCB4, ABCB5, ABCB6, ABCB7, ABCC1, ABCC11, ABCC12, ABCC2, ABCC3, ABCC4, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABCG1, ABCG2, ABCG5, ABCG8, ABHD1, ABHD12, ABHD5, ABI3BP, ABL1, ABL2, ABO, ABRAXAS1, ACACA, ACACB, ACAD10, ACAD11, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACAT2, ACBD5, ACBD6, ACCS, ACE, ACHE, ACKR1, ACKR3, ACLY, ACMSD, ACO2, ACOX1, ACP1, ACP2, ACP5, ACP6,

How It Works?

  1. Consultation: Discuss your symptoms, family history, and concerns with a metabolic specialist.
  2. Sample Collection: Provide a simple saliva, blood, or urine sample for DNA analysis.
  3. Advanced Genetic Analysis: State-of-the-art testing detects key genetic mutations linked to metabolic health.
  4. Personalized Report: Receive a detailed, easy-to-understand report with actionable insights.
  5. Expert Guidance: Work with metabolic specialists and genetic counselors to create a tailored care plan.

Why Choose Us?

  • Cutting-Edge Technology: Advanced genetic sequencing for precise and reliable results.
  • Expert Team: Board-certified metabolic specialists and genetic counselors guiding you every step of the way.
  • Privacy Assurance: Your genetic data is protected with strict confidentiality policies.
  • Compassionate Care: Dedicated to your comfort, well-being, and long-term health.