3rd round of genetic testing

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

[Lisa Kessler, MS, CGC]

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.

[Maria7786]

Thank you for answering.

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.