Has Anyone Had Autism Spectrum Evaluation Bloodwork Done From Athena Labs? | MyAutismTeam

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Has Anyone Had Autism Spectrum Evaluation Bloodwork Done From Athena Labs?
A MyAutismTeam Member asked a question 💭

My sons neurologist has ordered special blood work from Athena Labs. It is called Autism Spectrum Disorders Evaluation and another for 180K Whole Genome Chromosomal Microarray Analysis, they are extremely expensive. Has anyone had this done for their child and with any results or conclusive answers for treatment?

posted March 2, 2014
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A MyAutismTeam Member

Our doc just requested the chromosomal microarray which we haven't done yet. I do fully expect this to be negative as it is for most.

There are about two dozen known genetic and metabolic disorders that have high co-morbidity with ASD that one can test for. About a dozen of them one cannot do much about (e.g. Fragile X, mutations in research that don't have clinical significance yet, etc.).

However, I believe about a dozen of them are worthwhile testing such as SLOS, Biotindaise deficiency, CFX, BKCD, PKU, CFD, Lesch Nyan, SSADH, etc. - these are rare but can be treated to some extent if caught early. In a recent Greek study that was published, approximately 10% of the kids with autism that they looked at had in-born errors of metabolism that could be treated to some extent. Unfortunately, there is no standardized panel that can test all of the metabolic disorders that may cause ASD like symptoms.

The panel of testing that you are doing are in the first category. Even if in the unlikely case any of it is positive, not much one can do about it from a treatment perspective. If it was free or covered by insurance, I would do these. The second category (treatable metabolic disorders), though rare, have to be individually tested and some of it (PKU) may have been done during newborn screening test. It is important to eliminate these even if you cross-check the other symptoms and an organic acid test might help catch some of these as well.

posted March 3, 2014
A MyAutismTeam Member

We had some genetic testing done but passed on the whole genome sequencing. That would've cost several thousand dollars and our insurance considered it experimental so they wouldn't pay. All the genetic testing we did get done came back negative.

posted March 2, 2014

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