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