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Certain illnesses are carried as traits by parents. When both traits are passed on to a child it can be affected. For many such illnesses, carrier status can be determined prior to conception. Both family history and ethnic background help to determine which testing may be appropriate for you.

Genetic Screening Suggestions:

By Ethnicity:

• Northern European:
  • CF- molecular testing for common mutations (specify ethnicity)
• African:
  • Sickle cell Anemia-hemoglobin electrophoreisis
  • Alpha-thalassemia-Complete blood count for MCV
  • Beta-thalassemia-Complete blood count for MCV
• Caribbean or Latin American:
  • Sickle Cell Anemia-hemoglobin electrophoreisis
• Southeast Asian:
  • Alpha- thalassemia-Complete blood count for MCV
  • Beta-thalassemia-Complete blood count for MCV
• Indian or Pakistani:
  • Beta-thalassemia-Complete blood count for MCV
  • Sickle cell Anemia-hemoglobin electrophoreisis (Indian)
• Middle Eastern:
  • Sickle cell Anemia-hemoglobin electrophoreisis
• Mediteranian (Sardinia and Cyprus)
  • Beta-thalassemia-Complete blood count for MCV
  • Sickle cell Anemia-hemoglobin electrophoreisis
• French Canadian/Acadian:
  • CF-molecular testing for common mutations (specify ethnicity)
  • Tay Sachs Disease-serum hexaminodase level
• Ashkenazi Jewish-consider genetics counselling:
  • CF-molecular testing for common mutations (specify ethnicity)
  • Tay Sachs Disease-serum hexaminodase level
  • Canavan Disease-molecular testing for common mutations (specify ethnicity)
  • Gaucher Disease- molecular testing for common mutations (specify ethnicity)
  • Niemann-Pick

By Condition:

• Cystic Fibrosis
  • Ashkenazi Jewish
  • French Canadian
  • Northern European Caucasion
• Alpha-Thalassemia
  • Southeast Asian
  • African
• Beta-Thalassemia
  • Mediteranian (Sardinia and Cyprus)
  • Southeast Asian
  • Indian (East)
  • Pakistani
  • African
• Sickle Cell Anemia
  • African
  • Mediteranian (Sardinia and Cyprus)
  • Middle Eastern
  • Caribbean
  • Latin American
  • Indian
• Tay Sachs
  • Ashkenazi Jewish
  • French Canadian/Acadian
• Canavan Disease
  • Ashkenazi Jewish
• Gaucher Disease
  • Ashkenazi Jewish
• Niemann-Pick
  • Ashkenazi Jewish
    

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