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Genetics Clinic

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Genetics Clinic
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Genetics Clinic provides health care for adults and children with genetic diseases or suspected to have genetic diseases. This healthcare includes conducting clinical evaluation, performing genetic tests, providing advice on management, and performing genetic counseling for patients and families. Patients are referred from variable medical specialties:


Internal Medicine and Family Medicine: Adults suspected to have any genetic diseases or positive family history of genetic diseases, e.g. family history Huntington disease or cancer

Cardiology: Patients with cardiomyopathy, prolonged QT syndrome, familial hyperlipidemias, etc. 

Neurology: Patients with hereditary neuropathies, muscular dystrophies, early onset strokes, etc. 

Endocrine: Patients with early onset diabetes, multiple endocrine disorders, etc.  

Oncology: Family history of cancer or affected individuals with cancers who are suspected to have familial cancer (early onset tumors, multiple tumors, or family history of tumors)

Pediatrics: Some of the conditions that require genetic evaluation are:

  • Developmental delay, intellectual disability, autism, and behavioral disorders
  • Down syndrome and other chromosomal disorders and genetic syndromes
  • Dysmorphic features and congenital malformation
  • Skeletal malformation and growth failure
  • Inborn error of metabolism (metabolic disorders) and mitochondrial disorders
  • Variable other genetic/inherited neurologic, endocrine, cardiovascular, pulmonary, renal, gastrointestinal, hematologic, skeletal, and dermatological diseases.

Ophthalmology: Patients with retinitis pigmentosa, high myopia, optic atrophy, etc.  

ENT: Patients with familial hearing impairment   

Dermatology: Patients with ichthyosis, albinism, epidermolysis bullosa, etc. 

Obstetrics and Fetal Medicine: Some of the conditions that require genetic evaluation are:

  • Fetal anomalies to provide counseling and advice about prenatal genetic testing.
  • Previously affected child or family history of genetic disease
  • Infertility or recurrent miscarriages
  • Intrauterine fetal death
  • Couples seeking pre-implantation genetic testing
  • Prenatal genetic testing
  • Prenatal screening for chromosomal abnormalities

Preventative Genetics: Healthy individuals seeking advice and genetic counseling:  

  • Positive family history of genetic disease
  • Genetic testing and counseling for carriers of genetic diseases
  • Pre-marital genetic evaluation, screening, testing, and counseling
  • Prenatal genetic evaluation, counseling, and testing (e.g. NIPT)
  • Genetic evaluation and counseling for pre-implantation genetic testing
Last update date: 24-05-2024

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