Genetic testing?

oboechick · April 2013

Have any of you had genetic testing done on a kiddo? Greyson has several symptoms of a few (mostly rare) genetic conditions, and I'm thinking about asking that he have some tests run while we're in Seattle. Thoughts?

emeraudecephiro · April 2013

Vincent did at 5 days old when he was discovered to have markers for Down Syndrome at birth. We found out he did, but we will be meeting with the genetic counselour on the 15th for more details and more in depth findings

gimmietimmies · April 2013

We're still waiting. The last note from the geneticist said they may have approval for next gen sequencing next month. Ds has been without a dx for 15 years so I'm okay with waiting.

Soapstone · April 2013

Yes, we had the otoscope genetic test done which was positive for a syndromic cause of hearing g loss.

thefuturemrskudla · April 2013

It's a good idea, since a positive result for a known syndrome, etc. may provide guidance on what to expect in the future, whether certain diseases or conditions should be looked for, what the chances of recurrence for future children.

kcisthebombdotcom · April 2013

Yes. We went in for the initial consultation with the geneticist a few weeks ago. We just got insurance approval for th tests and we go in tues for bloodwork.

Jinsy80 · April 2013

We had DD2 tested in January and received a diagnosis in March. She has a microdeletion on chromosome 15. It's very rare.

mom2pottamus · April 2013

We are just waiting for insurance to approve, but we have an rx to be tested for Fragile X and SNP's only. I am hedging a little on this because it's being done to rule out vs confirm anything, but will do them just to be sure.

KelleyBean · April 2013

I had CVS testing at 12 weeks due to an issue with an NT Scan. Everything came back normal.

Assembly_Reqd · April 2013

KelleyBean:
I had CVS testing at 12 weeks due to an issue with an NT Scan. Everything came back normal.

I had CVS testing too. CVS results can be wrong.

If your child has interstitial deletions and they are partial deletions of the bands that are visually looked at to be sure they are there, they can be missed. CVS is not a perfect test.

It missed Nate's THREE deletions all around the same area on chromosome 1 and they are not tiny.

FlgBride · April 2013

Yes. My son was tested for fragile x and also had a SNP array done. Results of the SNP array were normal and he was diagnosed as having fragile x syndrome. Strangely, it was a relief to receive the diagnosis. At least we had an answer for G's gross motor delay.

mommyof4boys · April 2013

We had karyotyping, fragile x, and microarray. My youngest has a 16p11.2 duplication which turned up in the microarray.

KelleyBean · April 2013

Assembly_Reqd:
KelleyBean:
I had CVS testing at 12 weeks due to an issue with an NT Scan. Everything came back normal.
I had CVS testing too. CVS results can be wrong.
If your child has interstitial deletions and they are partial deletions of the bands that are visually looked at to be sure they are there, they can be missed. CVS is not a perfect test.
It missed Nate's THREE deletions all around the same area on chromosome 1 and they are not tiny.

Yes, CVS can be wrong but that is the extent of the genetic testing we have had. In our case, it did not pick up anything. It doesn't mean we won't need to pursue additional testing in the future.

ToastieSimons · April 2013

We had a karotype, microarray and XLID panel run. Our insurance covered it all and we didn't need preapproval.

Sla626avery · April 2013

We just had our screen come back positive for a 1 in 5 chance high risk for Down syndrome. I will keep my baby either way and love it with all my heart, but this is heart breaking. Opted for the materna21 blood rest because its not invasive. Have to wait 10 business days. The other 2 tests have a miscarriage and aren't worth the risk.
As a mother you want the best life and everything for your baby. Just trying to wrap my head around this. Hoping for a negative result on the 21
Test but if its positive we will move forward and prepare.

heedy07 · May 2013

DS has had karyotyping (normal), microarray (normal), and now CHD7 sequencing (results still pending) done in the past. IMO, a diagnosis really helps with justification to insurance companies if a child needs extra services/therapies later on down the road. It also gives you some answers and a better picture of what lies ahead.

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