Genetic Testing....

Hi Linny, We just did Genetic testing last week. It is really only one stick if the child has good veins and only 2 tubes of blood for the chromosonally test to start with. Now the doctor did tell us that if he seen any abnormal results he might order more indept lab test. Hope this helps.

I didn't see this until now. Unless your kid has bad veins, they can usually do one stick and just keep filling new vials from the single stick.

Yep, Cameron has labs drawn a lot. If the person from lab is good, they can get by with one poke. If it's a finger or toe poke, make sure they put a warm pack on first. They'll bleed a lot easier.

I always request Lidocaine cream for my daughter when she gets blood drawn for a diabetes study. It sits on the skin for an hour and they don't feel a thing. Chrissy

This is good stuff. I used it even into my 20's for blood draws! Just make sure the nurses know not to touch the cream when it is being cleaned off. My first one did and then she couldn't do the blood draw because her finger was numb!

Be careful, some people have severe reactions to lidocaine. I have mild ones, if the Dentist uses lidocaine, I am number for about 18 hrs. I have heard of cases with very severe reactions. Lidocaine cream is also used in preparation for laser hair removal and those are the severe reactions I have heard of. Was a 20/20 special or a program like it.

Just an update.....went to the neuro yesterday. Neuro recommended CMA testing (Chromosomal Microarray)....to check 'deeper' into any possible causes for our baby's delays. She also stated though....that our baby could just present as a Fetal Alcohol Baby. That came as no surprise to us. Because of her hypotonia, she's also testing her muscle-cells (my words, not hers).......just to eliminate anything. (She was more hypotonic than usual I think because she'd been sick/up much of the night before.) We'll know the results in 6-8 weeks. This type of thing really makes me nervous in many ways. Sometimes I think ignorance IS bliss. Given the choice, we'd go for fetal alcohol anytime, believe me. Sincerely, Linny

Turner and Down's are easily (well, relatively, LOL) detectable via a karyotype, i.e. choromosomal testing. In Turner, you have one X chromosome while normally a female has XX (= two copies of the X chromosome) and a male has XY (one copy of an X chromosome and one copy of a Y chromosome). In Down's, instead of 46 chromosomes, you have 47 because you have three copies of chromosome #21 instead of the normal two copies. However, in many/most genetic conditions, a simple karyotype, i.e. looking at the chromosomes' shapes and numbers, is not enough. My friend did an amniocentesis which showed normal karyotype, and yet her daughter has most likely a genetic disorder (Beckwith-Wiedemann syndrome). A genetic condition is usually one or more enzymes not working properly because there is a defect/mutation in the DNA. That does not necessarily cause visible structural alterations in the chromosomes themselves but rather abnormal levels of certain enzymes in the body. Since our body produces a gazillion enzymes, to find out which enzyme is presented at an abnormal level is like looking for a needle in a haystack. :arrow: From what I read, CMA is a new and promising test, but again, it will not detect all genetic conditions, far from it. If it is a rather rare disorder, it might take a long time until you receive a reliable diagnosis. I wish you all the best, hope you and your baby hang in there with all the blood tests!