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service

Patients and Visitors ​ ​

Service Business

  1. Genetic counseling for pre-gestational & prenatal periods
  2. Diagnosis and treatment of Genetic diseases
  3. Multi-Disciplinary Tuberous Sclerosis Complex (TSC)
  4. Multi-Disciplinary Down's Syndrome
  5. Counseling for hereditary Genetic diseases.
  6. Global screening for inborn errors of metabolism
  7. Registration and long-term monitoring for Genetic diseases 
  8. Investigation of molecular mechanism(s) in hereditary diseases
  9. Training & continuous education for persons who working in the field of medical genetics 
  10. International collaborations in the field of medical genetics and allied sciences
  11. Neurogenetic section for the service of patiens with hereditary neurological disorder

Prenatal Genetic Diagnosis

Methods: 

  • ​​Fetoscope
  • ​Ultrasound
  • ​Chorionic Villi samping
  • ​Amniocentesis and Chromosome analysis

Indication:​

  1. ​Women are pregnant at age 34 or above
  2. Women who have had children with gentics disorders that are 3. detectable by diagnosis technology.
  3. Women who have had delivered multiple disorders with unknown diagnosis.High risk of Down’s syndrome, abnormality is tected by ultrasound, or the couples are thalassemia allel carriers.
  4. One of the parents has chromose balanced translocation.
  5. Genetic disease family history that can be diagnosed.
  6. onstantly miscarriage more than 3 times​

Newborn congenital metabolic disorder screening test

General screening​

  1. ​Congenital hypothyroidism
  2. Glactosemia
  3. Glucose-6-phosphatase dehydrogenase deficiency
  4. Congenital adrenal hyperplasia

​MS/MS screening

  1. ​Medium-chain acyl-CoA dehydrogenase deficiency
  2. Short-chain acyl-CoA dehydrogenase deficiency
  3. Disorders of long-chain fatty acid oxidation
  4. Carnitine transporter defect
  5. Carnitine palmitoyl transferase I/II deficiency
  6. Carnitine tanslocase deficiency
  7. propionic acidemia
  8. Methylmalonic acidemia
  9. Isovaleic acidemia
  10. Glutaric acidemias
  11. 3-hydroxy-3-methylglutaric, 3-methylcrotonyl-CoA-carboxylase deficiency
  12. Maple syrup urine disease
  13. Citrullinemia I/II
  14. Tyrosinemia II/III
  15. Argininosuccinic acidemia
  16. Argininemia
  17. Hyperammonemia, Hyperornithinemia, homocitrullinuria syndrome
  18. Phenylketonuria
  19. Hypermethionemia
  20. Pompe disease
  21. Fabry disease
  22. Severe combined immunodeficiency disease (SCID)
  23. AADC
  24. GD
  25. MPS I, MPS II
  26. BD

Gen​etic screening and consulting

After pre-marriage health screening, those who are suspects of genetic disorders or metal disease will need further tests after the pre-marriage health screening. 
When maternal thalassemia screening is positive, both husband and wife need to confirm the diagnosis. Newborn primary screening is positive, the baby and the family of the baby have to have further tests.Genetic disease or mental disease has been suspected in immediate family or pregnant women.

​Genetics health services and medical aids

To encourage the usage of genetic health services, the medical aids are specific for those who have needs and requirements, which is including screening of genetic disorders, prenatal genetic diagnosis and newborn congenital metabolic disorder screening.For more information or any question, please contact with our Genetic Counselor .TEL | (02)23123456 ext 71923:::