Top
20
Doctor insights on: Bcr Abl Gene Rearrangement Qt Pcr

Share
1

1
Is factor 7 gene mutation (heterozygote) thrombophila?

Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...Read more

Polymerase Chain Reaction (Definition)

Polymerase chain reaction is a method of finding a specific piece of dna and copying it over and over again until there is enough to study. The technique allows a scientist to detect very small amounts of dna in a swab sample then reproduce enough of it to study it. It is very sensisitive for detecting the presence of certain bacteria and is also used in doing other ...Read more


2

2
Cause of a positive monoclonal T cell beta gene rearrangement?

Cause of a positive monoclonal T cell beta gene rearrangement?

Tumor: Monoclonal proliferation of lymphoid cells is usually an indication of tumor of the lymphoid tissue. ...Read more

5

5
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
6

6
What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

7

7
What is hemagglutinin (ha) gene and neuraminidase (na) gene?

What is hemagglutinin (ha) gene and neuraminidase (na) gene?

Flu virus genes: The hemaglutinin and neuraminidase genes are in influenza viruses. They code for proteins that are found on the surface of the flu virus. The viruses are named according to which type of hemaglutinin and neuraminidase proteins are on their surfaces (for example: h1n1 or h7n9). ...Read more

Dr. Jay Park Dr. Park
2 doctors agreed:
8

8
Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
2 doctors agreed:
Is williams syndrome a gene or chromosomal mutation ?

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
10

10
Blood flow cytmtry shows dual positive cd4cd30 cells absolute count of 2354. IGG slightly elevated with elevated light chains, T cell Beta clone noted?

Blood flow cytmtry shows dual positive cd4cd30 cells absolute count of 2354. IGG slightly elevated with elevated light chains, T cell Beta clone noted?

Asking what?: If your are requesting a diagnosis online, this is not the appropriate venue. Though the flow cytometry results are not totally normal, your results should be reviewed with the physician who ordered it. This format does not give us the ability to determine if your clinical presentation and lab results are consistent with a specific diagnosis. ...Read more

11

11
Etiology of DNA mutations?

Etiology of DNA mutations?

Replication error: Most changes in dna come from errors in the duplication of the dna. But changes can occur in the structure from radiation and some chemicals especially those used in chemotherapy. Most mutations are harmless, some are tracked down by your normal reparative mechanism but a few can cause trouble including cancer. ...Read more

13

13
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

14

14
Is hemophilia a gene mutation?

Yes: Both hemophilia a and b are due to mutations in genes on the x chromosome. ...Read more

15

15
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

16

16
What chromosome is mutated in sickle cell disease?

What chromosome is mutated in sickle cell disease?

11: The beta globin gene is mutated in sickle cell anemia; it is located on chromosome 11. ...Read more

Dr. Jay Park Dr. Park
2 doctors agreed:
17

17
What chromosome carries the gene for sickle cell anemia?

Dr. Jay Park Dr. Park
2 doctors agreed:

Chromosome No. 11: Point mutation at beta-globin gene located at chromosome no. 11 results in production of defective hemoglobin, sickle hemoglobin. ...Read more

See 1 more doctor answer
18

18
How do a gene mutation and a chromosomal mutation differ?

Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more

20

20
LDH Isoenzymes lab test results: LDH total- 153. LD1- 32, LD2-30, LD3, 20, LD4- 8, LD5- 10. Are these results normal? Is the LD1&LD2 ratio abnormal?

LDH Isoenzymes lab test results: 
LDH total- 153. LD1- 32, LD2-30, LD3, 20, LD4- 8, LD5- 10. Are these results normal? Is the LD1&LD2 ratio abnormal?

Historic test: Matthew, the LDH isoenzyme test is ancient history, almost never ordered nowadays. And your LDH is normal. The old 1-2 ratio is an antique screen for a heart attack, and it's neither sensitive nor specific. I know you're obsessing over the idea that you have lymphoma, and a few websites suggest this as a screening test -- but it's not. Focus on building a life for yourself. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more