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Doctor insights on: Genomic Alterations Poc Clarisure

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Sev. Dev. Delay -array comparative genetic hybridization (acgh) results indicate no abnormalities- would full genetic sequencing be advised (knome)?

Sev. Dev. Delay -array comparative genetic hybridization (acgh) results indicate no abnormalities- would full genetic sequencing be advised (knome)?

Not necessarily: Newer genetic tests provide incite into a variety of issues like autism & other developmental variations.Yet causation remains elusive in many cases.Sadly, an injury to the developing brain centers from an unrecognized event in an otherwise normal pregnancy is a likely cause for many.This occurs in at least half of cerebral palsy cases & dev.Delay could be produced in others, yet hard to prove. ...Read more

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Tell me about genomic testing. Should I do it?

Tell me about genomic testing. Should I do it?

Depends: Your genes are one of the factors than can influence your health and disease. The usefulness of gene testing is still evolving. Your family history can help guide you as to how useful it may be for you. The most useful areas today are testing for recessive genes, risk analysis for certain diseases like cancer, and pharmacogenomics. Results can be confusing so counseling is important. ...Read more

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Cispr can edit our geno dna. Does this mean they could cure ehlers danlos syndrome by editing the faulty collagen to normal? How amazing?

Gene therapy: Crispr (clustered regularly interspaced short palindromic repeats) is an an immune strategy that bacteria use to detect and chop up foreign dna. By introducing the enzymes responsible for this process into human cells, genetic engineering can be performed. Treating a disease using this technology will be quite challenging, but I have no doubt this will eventually make it into clinical trials. ...Read more

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I'm 36 and have 2 copies of APOE4 per Pathway Genomics. I have mild cognitive issues. What testing is appropriate that insurance will cover?

I'm 36 and have 2 copies of APOE4 per Pathway Genomics. I have mild cognitive issues. What testing is appropriate that insurance will cover?

Careful: Insurance ≠: issues. Typical larger issue is NMR-lipoproteins by Vantera Analyzer, the primary driver of arterial disease & strokes, along with ?ed BP. So optimize LDL to <400 nmol/L & large HDL to >9 umol/L by NMR along with HbA1c <5.0% & Systolic BP <120 mmHg. Also study the work of Leah Makley (more details later) ...Read more

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Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial  trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more

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How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

Modern synthesis: It's as well-established as anything in science, but would take more than 400 characters to explain. You owe it to yourself, as an educated person who must participate in community decision making, to understand it. There are a huge number of good books on the subject. Best wishes. ...Read more

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With bipolar ii, adhd, & c ptsd, what additional tests are beneficial? Ie: hormone, neurotransmitter , DNA mutation (mthfr, a1at ...) methylation etc.

Yes: I would definitely check mthfr and comt. Both these are involved in methylation. One is involved in neurotransmitter synthesis, and the other in breakdown. Therefore polymorphisms can impact mood, etc, and if so, vitamins and supplements can help the methylation cycle. I check mthfr in most of my patients. ...Read more

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Can i find out DNA results of an alleged father before the babies born? Dna testing

Can i find out DNA results of an alleged father before the babies born? Dna testing

Hello. : Hello. This is actually a good question but it is legal in nature. I recommend that you pose this same question on the legal portion of avvo.Com. It will provide lawyers with an opportunity to provide responses as a public service. ...Read more

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Can a fragile x PCR blood test determine the sex of the fetus? My results say:female, 28 and 29 cgg repeats (negative).

Can a fragile x PCR blood test determine the sex of the fetus? My results say:female,  28 and  29  cgg repeats (negative).

No, just mutation.: The sex of the fetus is determined by karyotyping/cytogenetic analysis. This test determines the extent of the trinucleotide repeat mutation using southern blot analysis. By determining the number of cgg repeats on the x chromosome, this method allows for more accurate assessment of risk for premutation carriers in terms of their own risk of these syndromes, and of having affected children. ...Read more

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My question is: How far back(Exact time) Are drugs detected in a newborn baby, placenta, & umbical cord with diff types of testing (hair, poo etc)?

My question is:
How far back(Exact time) Are drugs detected in a newborn baby, placenta, & umbical cord with diff types of testing (hair, poo etc)?

Varies with test/amt: Detection varies with the test, amount consumed and material tested.Urine clears quickest,blood later.If suspicious,I test meconium, the first poo,which begins to form about 12 weeks and remains until birth.Hair could be tested, but I've never herd if it in newborns. Timing is non-specific, since heavier users will leave more to be found.The meconium is good for at least several months back. ...Read more

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3 MCs no live birth. 2 MCs turner's & trisomy14 in fetus. Parents karyotyping normal. What other genetic tests shld be done. Risk of abnormal child ?

3 MCs no live birth. 2 MCs turner's & trisomy14 in fetus. Parents karyotyping normal. What other genetic tests shld be done. Risk of abnormal child ?

No need extra tests: No need for further tests before pregnancy since the parents chromosomes are normal. For early piece of mind you can consider early non-invasive genetic screening in early pregnancy. ...Read more

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Help please! is the noninvasive prenatal paternity bloodtest with 317.000 genetic markers from natera reliable/ accurate? Can i trust the outcome?

Help please! is the noninvasive prenatal paternity bloodtest with 317.000 genetic markers   from natera reliable/ accurate? Can i trust the outcome?

Website : The company website states a 99.9% accuracy. Yesterday when you asked though you mentioned the results were "indeterminate". ...Read more

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3 early MCs & chromosomal abnrml in all fetuses (no birth), is karyotyping of parents the only genetic testing tht can be done? Names of any other pls

3 early MCs & chromosomal abnrml in all fetuses (no birth), is karyotyping of parents the only genetic testing tht can be done? Names of any other pls

It's the starting pt: Parent study comes first.A person can appear normal if they carry all the proper chromosome material but with part belonging to one chromosome swapped with another.(ie, part of a #15 is on #21) When fertilization occurs, the fetus may get part of the mistake and not the other & be defective.Some of these have a partial chance of normal birth, some would always end up a defect.See a geneticist. ...Read more

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Lost baby in 16 week with termination due to anencephaly.biopsy report has notes "anencephaly,hypo plastic maxilla.what does that mean?

Lost baby in 16 week with termination due to anencephaly.biopsy report has notes "anencephaly,hypo plastic  maxilla.what does that mean?

Findings expected in: anencephaly.. We now believe that the cranium does not close, leaving the brain exposed. By 11 to 12 weeks, extension of the legs is sufficient to bash the normal brain against the uterine wall, destroying most of it by 13 to 14 weeks. The markedly reduced brain volume causes deformation of craniofacial structures. Had the cranium closed, your fetus would've had a normal face. ...Read more

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X lab: urine culture test positive with e --coli. Y lab: no significant growth z lab (renowned in our city) klebsiella pneumoniae. What to do?

X lab: urine culture test positive with e --coli. 
Y lab: no significant growth
z lab (renowned in our city) klebsiella pneumoniae. What to do?

Pick your favorite.: Pick your favorite doctor that is. Something fishy is going on here. Need to get a good doc who can understand your symptoms and order and interpret testing. May want to reports discrepant results to labs. ...Read more

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What would tcells 83% cd4/cd8 ratio of 6.5, Nk 2%, polytypic bcells 15% mean? I've been having abnormal blood work so they completed a flow cytometry.

What would tcells 83% cd4/cd8 ratio of 6.5, Nk 2%, polytypic bcells 15% mean? I've been having abnormal blood work so they completed a flow cytometry.

Not that much: cannot say in your particular case, but generally, there's a lot of variability in these. BUT in HIV or other immunosuppression, the T cell count is low and the CD4 ratio is LOW.. below 2 not above 5. BUT the polytypia, the elevated counts all imply an ongoing chronic infection such as TB, chronic viral infection (non-HIV) syphillis, lyme, etc. ...Read more

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At which temperature (bodily and external) the MTHFR enzyme, a result of heterozygous C677T mutation, becomes thermolabile, i.e.inactive? Thank you.

At which temperature (bodily and external) the MTHFR enzyme, a result of heterozygous C677T mutation, becomes thermolabile, i.e.inactive? Thank you.

N/A: The mutation which causes dysfunction of the MTHFR enzyme is genetic - it doesn't happen because of a variation in body temperature. The rare disorder that this causes is characterized by a possibility of inappropriate clot formation, which can result in stroke or heart attack. However, a person proven to have this mutation may never actually experience such a thrombotic event. ...Read more

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Read about a LPR5 gene mutation family in science magazine,does new drug LP33401 increase bone width too or juz BMD in the mice experiment?

Read about a LPR5 gene mutation family in science magazine,does new drug LP33401 increase bone width too or juz BMD in the mice experiment?

Interesting question: When I searched for lp40331, I found it to be the part no. for a John Deere T-shirt. The leprosy susceptibility genetic loci are fascinating, however. Armauer Hanson discovered Mycobacterium leprae in Bergen, Norway in 1873. Genetic susceptibility to leprosy was long suspected by epidemiologists, and now confirmed, explaining why many family or tribe members are resistant. See OMIM.org %609888 ...Read more