Top
20
Doctor insights on: Genomic Alterations Clarisure Cgh

Share
1

1
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

2

2
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

3

3
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

4

4
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

5

5
Can gene thereapy alter a living persons genome?

Can gene thereapy alter a living persons genome?

No: Not at this point yet. The aim of such therapy would be not to alter the human genome but rather to correct it to make it as closer o normal as possible. ...Read more

6

6
Can chromosomal microarray detect down syndrome? What's the difference between chromosomal microarray and the conventional karyotypying?

Can chromosomal microarray detect down syndrome? What's the difference between chromosomal microarray and the conventional karyotypying?

It may, depends: First step is conventional karyotyping, if the clinical suspicion present for Down syndrome, detection of an extra chromosome 21, or triploidy, instead of two. In 95% of Down syndrome it's diagnostic, but If it didn't detect and suspicion still there - next step could be a microarray, which designed to detect submicroscopic abnormalities not detected by regular karyotyping for the rest of 5% D-se ...Read more

7

7
What are germline gene alterations?

Inheritable: "germline" refers to genes that are present in every cell of the body from conception or shortly afterwards, including sperm/ ova, and thus can be passed down to offspring. This term is used to distinguish these types of inherited genetic mutations from those that are not inherited - not present in the dna of sperm or ova. ...Read more

8

8
Please exlain alpha-fetoprotein testing for genetic disorders?

Please exlain alpha-fetoprotein testing for genetic disorders?

Alpha fetal protein: AFP is a fetal specific globulin, synthesized by the fetal yolk sac, gastrointestinal tract, and liver. The function of AFP is unknown. AFP blood levels can be measured during the second trimester to screen for open spina bifida and anencephaly, but can also uncover fetal abnormalities such as abdominal wall defects. AFP is also used in screening tests for downs syndrome and edwards syndrome. ...Read more

9

9
What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

See 1 more doctor answer
10

10
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

See 4 more doctor answers
11

11
What's the role for genetic counseling when genome testing?

What's the role for genetic counseling when genome testing?

Website: Go to www.Genome.Gov and on the right side scroll down to "genetic disorders faq" and click on it for a pretty complete reference site. In the list on the left pick "faq about genetic counseling". You may get there directly by going to: www, genome.Gov/19016905. ...Read more

12

12
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

16

16
What is the human genome project and whose genome was sequenced?

What is the human genome project and whose genome was sequenced?

Map of Human DNA: The Human Genome Project created a map of human DNA and was completed in 2003. Anonymous samples were donated by several people, but the majority of the "genome map" is from a single male donor from Buffalo, NY. The identity of this individual is not known by researchers who sequenced the DNA. ...Read more

18

18
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

Dr. Jay Park Dr. Park
2 doctors agreed:
19

19
Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
2 doctors agreed:

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

See 2 more doctor answers
20

20
Pheochromocytoma and DNA familial inheritence, what's the relation?

Pheochromocytoma and DNA familial inheritence, what's the relation?

Rare: The incidence of pheochromocytoma is 3-8 per million. It's extremely rare. It can run in families - when this occurs, it's usually part of an inherited syndrome: multiple endocrine neoplasia, type 2A and 2B, neurofibromatosis type 1 and Von Hippel-Lindau syndrome. ...Read more