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.

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