Health & Disease

A. Disease Predisposition Testing

1. Cancer Predisposition

  • BRCA1 and BRCA2 testing for breast and ovarian cancer risk
  • Lynch syndrome testing for colorectal cancer risk
  • APC gene testing for familial adenomatous polyposis
  • Multiple endocrine neoplasia (MEN) testing
  • Li-Fraumenti syndrome testing (TP53 gene)

2. Cardiovascular Disease Risk

  • Familial hypercholesterolemia testing
  • Long QT syndrome genetic testing
  • Hypertrophic cardiomyopathy testing
  • Factor V Leiden testing for blood clot risk
  • Apolipoprotein E testing for cardiovascular disease risk

3. Neurological Disorders

  • Huntington’s disease testing
  • Parkinson’s disease genetic risk factors
  • Alzheimer’s disease risk assessment (APOE genotyping)
  • Spinocerebellar ataxia testing
  • Multiple sclerosis susceptibility testing
  1. Metabolic Conditions

B. Pharmacogenetics

1. Drug-Metabolizing Enzymes

  1. Cytochrome P450 (CYP) enzymes
  • CYP2D6 (antidepressants, beta-blockers)
  • CYP2C19 (proton pump inhibitors, antidepressants)
  • CYP2C9 (warfarin, NSAIDs)
  • CYP3A4/5 (statins, immunosuppressants)

2. Drug Transporters

  • ABC transporters
    • P-glycoprotein (ABCB1/MDR1)
    • BCRP (ABCG2)
  • SLC transporters
    • OCT1 (metformin)
    • OATP1B1 (statins)

3. Drug Targets

  • VKORC1 (warfarin sensitivity)
  • HLA alleles (drug hypersensitivity)
  • Beta-receptors (asthma medications)
  • Neurotransmitter receptors (psychiatric drugs)

C. Carrier Screening

1. Autosomal Recessive Disorders

  • Cystic Fibrosis (CFTR gene)
  • Spinal Muscular Atrophy (SMN1 gene)
  • Tay-Sachs Disease (HEXA gene)
  • Sickle Cell Disease (HBB gene)
  • Beta-thalassemia (HBB gene)

2. X-Linked Disorders

  • Fragile X Syndrome (FMR1 gene)
  • Duchenne Muscular Dystrophy (DMD gene)
  • Hemophilia A (F8 gene)
  • Hemophilia B (F9 gene)
  • X-linked Adrenoleukodystrophy (ABCD1 gene)

3 ( A ). Ethnic-Specific Screening Jewish Population:

  • Canavan Disease
  • Familial Dysautonomia
  • Gaucher Disease
  • Niemann-Pick Disease
  • Bloom Syndrome

3 ( B ). African Population:

  • Sickle Cell Disease
  • Beta-thalassemia
  • G6PD Deficiency

3 ( C ). Asian Population:

  • Alpha-thalassemia
  • Beta-thalassemia
  • SMA

The Unique Health Care Lab pioneers personalized medicine through advanced diagnostics and AI-driven research, offering patients tailored treatment plans while maintaining strong ethical standards in healthcare innovation.

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