Best Medical Geneticists

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Medical Genetics Information:

A medical geneticist practices in the field of genetics. They are involved in the diagnosis and treatment of hereditary diseases.

One should see a medical geneticist if they have a genetic disorder, or have a family history of genetic disorders.

A medical geneticist treats disease and disorders such as:
  • Angelman Syndrome
  • Canavan Disease
  • Charcot-Marie-Tooth Disease
  • Cri du Chat Syndrome
  • Duchenne Muscular Dystrophy
  • Fragile X Syndrome
  • Gilbert's Syndrome
  • Joubert Syndrome
  • Klinefelter Syndrome
  • Krabbe Disease
  • Lesch-Nyhan Syndrome
  • Myotonic Dystrophy
  • Neurofibromatosis
  • Noonan Syndrome
  • Pelizaeus-Merzbacher Disease
  • Phenylketonuria
  • Porphyria
  • Prader-Willi Syndrome
  • Retinoblastoma
  • Rubinstein-Taybi Syndrome
  • Spina bifidia
  • Smith-Magenis Syndrome
  • Stickler Syndrome
  • Turner Syndrome
  • Variegate Porphyria
  • Von Hippel-Lindau Syndrome
  • Wilson's Disease
  • Wolf-Hirschhorn Syndrome
  • XXXX Syndrome
  • YY Syndrome

Procedures include gene therapy, personalized medicine and predictive medicine.

Some sub specialties include clinical genetics, metabolic/biochemical genetics, cytogenetics, molecular genetics and mitochondrial genetics.


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