has anyone ever been through genetic testing?

what questions do you ask...what tests should you request...what's the appointment LIKE?

i wanna make certain to be completely ready for this appointment, as it's taken over a year to get it.

any help here?

Shades of "Gattica".

What is the purpose of the genetic testing? To find out if you have specific genes for diseases?

purpose is to figure out what the heck is wrong with my little one. it's not for me.

well yea i have been through them with my son, and i actually.. they ask about the family and such as many things can be from the chromazones crossing and such..
what is wrong with your kids... email me and i will answer what i can

There are different conditions/anomolies that are caused specifically by inheriting gene(s) from the parents. Usually both parents are asymptomatic (recessive gene) but when the child receives the gene from both parents they will exibit the condition (dominant).

As a medical professional and a mother, I don't really know what questions to ask other than treatment options if the testing identifies the condition.

I went in for genetic tests...but, the cia confiscated the results and hauled me off to their secret research center in NM for aliens because my dna was not human!!!!!!

Why the hell do they ask "what religion are you?" I always reply, "Why in the hell do you need to know that, you goin to ask my Saviour to come down here and heal me? Because this hospital sucks!!!"

I have done some genetic tests on plant genomes,....but never with humans,......but i think the techniques are the same. What kind of test will you request?

let's see...she was floppy as a baby, so we started looking into things at just a week old.

her body wraps in some very strange ways...i can take her arms and wrap them behind her back at shoulder level. she dislocates easily.

her first diagnosis was Benign Congenital Hypotonia...went from there to Global Developmental Delay, moderate-severe dysphagia, asthma (most likely from aspiration), and severe GERD.

she said her first word at 23 months...with speech therapy. now, she talks wonderfully. she's had extensive PT, as well...and has since tested out of THAT, as well (has to be 1.5 standard deviations from the norm before medicaid will pay for treatment).

her newest diagnosis is Hypermobility Syndrome, which is a break-down of the collagen in the joints...it will most likely lead to arthritis before she's ten. we often have to treat swollen knees and the like and do pain management.

anyhow, she has low tone, which means that her brain doesn't send stimulus to her muscles as quickly as yours or mine does...so her muscles react a bit delayed. when she falls, for instance, she can't get her hands in front of her face quickly enough.

she also is at risk for Malignant Hyperthermia when under sedation...has to be completely intubated and have special anesthetics.

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we've had MRI, EKG, EEG, blood-work, and metabolic tests...genetic testing is the next step.

There are so many things you can find out from gentic testing right down to if you have genes for cancer. you can start with geting coding of your DNA and just have them explain what everything is in your DNA make up and that will explain everything to you. There are certain things in your DNA to a ceratin point that will change as your body adjust to its ever changing enviroment. If you want to know more about it I sugest geting a Microbiology book and studying up on it.

i'm bringing a comprehensive family tree (thanks to a suggestion on a special-needs forum), and i'm HOPING they conduct a FISH test...but i really need them to a micro-FISH array, since that tests for the syndrome i think she most resembles.

i was also told to ask for a "differential diagnosis", but i'm not sure what that is. (yeah, yeah...google. gonna do that).

it's one thing to do the research...and i have. hours upon hours of it, compounded with MORE hours...however, in talking with several other parents, i find that each person's experience at the genetic clinic is completely different...with varying results.

the ones that seem to be more positive are the ones that receive a full array of tests...but sometimes, they don't wish to do that right away.

i believe my child may have william's syndrome, which is characterized by a micro-deletion...and doesn't even show UP in regular genetic testing.