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Genetic Evaluation/Genetic Counseling
  1. Child with, or family history of children with, multiple malformations

  2. Mental retardation/developmental delays

  3. Known or suspected metabolic disorder: neonatal deaths, failure to thrive, organomegaly, loss of developmental milestones

  4. Common birth defects, such as cleft lip/palate, neural tube defects, clubfoot, congenital heart disease

  5. Child with unusual appearance, especially accompanied by failure to thrive or sub optimal psychomotor development

  6. Primary amenorrhea, aspermia, infertility or abnormal sexual development

  7. Known familial chromosomal abnormality

  8. Families with known hereditary conditions and/or questions about recurrence risks

  9. History of any disease "running in the family," especially hearing loss, blindness, neurodegenerative disorders, short stature, premature heart disease, immune deficiency, abnormalities of the hair, skin, or bones, or cancer

  10. Recurrent pregnancy loss/stillbirth

  11. Couples of "advanced age" (females over 35 and/or males over 55)

  12. Couples that are related

  13. Couples with an ethnic background suggesting an increased risk for a specific disorder, such as Jewish for Tay-Sachs, Black/Mediterranean/Asian for hemoglobinopathy/thalassemia

  14. Pregnant women, or women planning pregnancy, exposed to potential teratogens - radiation, chemicals, certain medications (anticonvulsants, anticoagulants, antimetabolites, thyroid antagonists, steroids), recreational drugs including alcohol, certain viral agents, very high fevers

  15. Women considering pregnancy who have a hereditary disorder (PKU, homocystinuria)

  16. Abnormal multiple marker screen/MSAFP

  17. Couples with questions about prenatal diagnosis for any disorder

  18. Patients in search of a diagnosis for some problem, with lack of success after a reasonable number of other consultations

  19. Familial cancer disorders



My Family
Health Portrait

Free program to download to help you collect your family health history