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Genetics (Expert Forum)
3rd round of genetic testing
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
3rd round of genetic testing
by Maria7786, Sep 08, 2007 01:38PM
My 20 month old is on her third round of genetic testing. She has Global developmental delay, plus hypotonia. If these come back negative should I keep pursuing a diagnosis or throw in the towel?
Maria
Maria
Doctor's Answer
by Lisa Kessler, MS, CGC, Sep 13, 2007 07:45PM
, Sep 13, 2007 07:45PM
Searching for a cause of developmental delay can be difficult and does not always provide parents with the answers that they are seeking. Only you can answer the question about when to take a break, stop, or keep going.
Things to take into consideration are whether or not you want to have more children, whether you want to know the risks to future children for a similar condition, if other family members are planning on having children and could be helped by the information, and finally, would services, support, and treatment change for your daughter with a diagnosis. If this information is important, do you need it now, or can it wait?
If your daughter is not already seeing a medical geneticist , this is something to consider in addition to the genetic testing. A medical geneticist will often perform a detailed physical exam that can guide the genetics tests ordered. You can find a medical geneticist through the American College of Medical Genetics website.
I recommend working closely with your medical geneticist and genetic counselor to determine when your daughter has had the appropriate tests. Even after pursuing all of the recommended tests, there still may not be answer right now, but genetics is a rapidly changing field, and you may want to follow-up with your medical geneticist on a yearly basis to stay updated.
Things to take into consideration are whether or not you want to have more children, whether you want to know the risks to future children for a similar condition, if other family members are planning on having children and could be helped by the information, and finally, would services, support, and treatment change for your daughter with a diagnosis. If this information is important, do you need it now, or can it wait?
If your daughter is not already seeing a medical geneticist , this is something to consider in addition to the genetic testing. A medical geneticist will often perform a detailed physical exam that can guide the genetics tests ordered. You can find a medical geneticist through the American College of Medical Genetics website.
I recommend working closely with your medical geneticist and genetic counselor to determine when your daughter has had the appropriate tests. Even after pursuing all of the recommended tests, there still may not be answer right now, but genetics is a rapidly changing field, and you may want to follow-up with your medical geneticist on a yearly basis to stay updated.
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She has 2 confirmed diagnosis from her geneticist. Velocardiofacial syndrome and unblanced trans locations of chromosomes. We go in a few weeks for a consultation with her drs. We are relived to finally have some answers.