| Changes
for COVID-19 -
DNA -
whole exome testing |
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Humans have about 24,000 protein coding genes. Almost 1,000 of
those are associated with |
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at least one autism spectrum syndrome. Then there are
hundreds, probably thousands, of |
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other genes associated with arthrogryposis, cerebral palsy and
epilepsy. As far as I know, |
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even after all these years why full trisomies (95%), partial
trisomies (3%) and mosaics (2%) |
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result in Down Syndrome is still not understood at the
molecular level. The current |
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estimate is 6,000
babies born annually with Down Syndrome in the US (1 in 700). |
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What we found was that, while knowing what gene or genes are
producing significantly |
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different proteins is informative what is really necesary in
many cases is to also know what |
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the exact addition, copy number variant (CNV), single
nucleotide polymorphism (SNP) or |
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deletion is. In one instance two somewhat similar students
both had ADNP gene |
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mutations resulting in Helsmoortel-van der Aa syndrome (a
type of autism) BUT they had |
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different velocities of learning. This was because the
mutations produced an Activity |
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Dependent Neuroprotector Homeobox protein with dramatically
different lengths. The |
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important thing is to get a whole exome DNA test. This uses
the same PCR technology as |
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is used in testing for the COVID virus (and determining what
variant it is). That means |
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your test is competing for staff and machines against
thousands of COVID tests. We have |
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used GeneDx and give them high marks BUT we suggest checking
both price and date of |
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completion (estimate). Usually it takes a licensed genetic
counselor to order the test. We |
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used Genome Medical (South San Francisco). The Fragile X and
microarray tests insisted |
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on by Kaiser were worthless - as expected. |