Genetic Testing, any had genetic testing done?

[Guest guest]

Hello everyone! I was wondering if anyone has had any genetic testing for

chromosomal abnormalities done for their child and if so, what were the results?

My son was recently tested, and has a duplication of the 1q21.1 gene in the 1st

chromosome....

PLEASE email me if you can share any experiences with me! THANKS!

[Guest guest]

we had genetic testing done on our daughter a couple of years ago, they couldn't find anything wrong with the chromosomes nor could they detect any problems with metabolic tests. Having said that, we haven't done the micro array yet, which came out after our tests were done. We also haven't tested for mitochondrial problems, because as we understand that requires a muscle biopsy, and we don't think we want to put her through that, unless there's a cure attached to a diagnosis.

-----Original Message----- From: Sent: May 24, 2009 4:41 PM Subject: [ ] Genetic Testing, any had genetic testing done?

Hello everyone! I was wondering if anyone has had any genetic testing for chromosomal abnormalities done for their child and if so, what were the results? My son was recently tested, and has a duplication of the 1q21.1 gene in the 1st chromosome....PLEASE email me if you can share any experiences with me! THANKS!

[Guest guest]

If I may toss my hat into the ring here, I have a son with moderate to severe

Autism, who was just diagnosed in February with a " probable " mitochondrial

disorder. I have learned through all this that there seems to be a strong, but

so far not-understood link, between mito and Autism.

We began with blood and urine tests run by a geneticist. There were some

abnormal results on these that suggested a mitochondrial disorder. From there,

we had a skin biopsy done. This is much less invasive than a muscle biopsy.

Meanwhile, we also had the microarrays run. My son did end up having a muscle

biopsy in October, and that was what gave us the " probable " or " suspected " mito

diagnosis.

There are a few points I'd like to make about the testing:

A) Docs will begin with the least invasive tests first. If they can get an

answer with those, there is no need for a more invasive muscle biopsy. So, if

you have reason to suspect a mitochondrial or metabolic issue, there's no harm

in doing the blood and urine tests. You do not HAVE to have any biopsies if you

do not wish to do that.

Now, docs do not look at muscle biopsies as the " gold standard " test for

mitochondrial disorder. They actually look to the microarray tests now, which

are done by a blood draw.

C) The problem with the microarray test is that it only picks up a small

fraction of the known mutations/deletions/translocations that are known to cause

mitochondrial or metabolic problems. It could be very possible that your

child's particular type might not be detectable yet. So, you may need to do

several of these tests over a period of years (they seem to come out with new

ones every 6 months or so) before your child's particular issue is detected. We

were just told in February that there's only a 10-15% chance of detecting a

particular mitochondrial and/or metabolic disorder through the current

microarray testing. In 5-10 years, that number will be higher.

D) The testing that is done on skin and muscle samples is not perfect. I was

rather upset to find that many of my son's muscle sample tests were declared

" invalid " due to " lab storage errors. " It wasn't all in vain for us,

however...one of the oldest tests to determine mitochondrial disorder -- a

muscle fiber staining test -- came out with an abnormal result. That, based on

blood, urine and spinal fluid results along with clinical symptoms have given us

our diagnosis. So, it depends on what you want to go through in order to get a

diagnosis -- and that's a personal choice for everyone.

E) There is no cure for mito. So I can completely understand not wanting to

test for something that has no cure. If, however, testing comes back strongly

suggesting mito, your child could be treated with supplements like CoQ10,

Carnitine and B Complex vitamins, for instance. It will not CURE it, but it may

very well slow the progression of symptoms.

If there's anything else I can answer for you, I'd be happy to do that. You can

contact me off-list too.

--Suzanne