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Doctor insights on: Pik3ca Mutation Analysis

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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

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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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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

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Would a high resolution cytogenetic analysis detect DiGeorge syndrome or q22?

Would a high resolution cytogenetic analysis detect DiGeorge syndrome or q22?

Multiple tests...: There are multiple tests used to detect DiGeorge syndrome. The one preferred is comparative genomic hybridization(aCGH) to detect the 22p 11.2 deletion. It compares the patient's genome against another one used as reference.For more information and decision on further tests this should be consulted with a Genetics specialist. ...Read more

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Is williams syndrome a gene or chromosomal mutation ?

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

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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

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Who needs apc genetic testing?

Who needs apc genetic testing?

History of polyps: General indications for APC gene testing include patients who themselves have had 10 or more adenomas or have had a desmoid tumor, or patients who have a family member with an APC gene mutation found on genetic testing. ...Read more

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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

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Can a pedigree trace autosomal recessive or autosomal dominant diseases?

Family tree: If you have enough information, a well filled out family tree can sometimes reveal patterns of inheritance. This includes autosomal recessive /dominant or x linked forms of inheritance. ...Read more

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Is hemophilia a gene mutation?

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

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Is a neural tube defect a chromosomal mutation or a gene mutation?

Both or neither.: While neural tube disorders can be a genetic mutation (gene is a functional unit of heredity occupying a specific spot--locus--on a chromosome), they occur most commonly in the setting of Folic Acid deficiency during pregnancy--hence prenatal vitamins with folic acid. Ntds occur in 1/1000 births, and range from spina bifida occulta to anencephaly. ...Read more

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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

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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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What happens if a pedigree shows x linked recessive inheritance does it also show autosomal recessive inheritance?

What happens if a pedigree shows x linked recessive inheritance does it also show autosomal recessive inheritance?

No: X-linked recessive inheritance involves asymptomatic females passing a condition to their sons. An example is hemophilia A and B. Usually only males are affected. Autosomal recessive inheritance affects both sexes equally. Two asymptomatic parents can pass a condition to their children 25% of the time on average. ...Read more

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Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...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

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Is elephantiasis a gene or chromosomal mutation? Please advise!

Elephantiasis : Elephantiasis is caused by infection with the filarial worm, which is transmitted to humans by mosquitos. It lives in the human lymphatic system. It is not a gene or chromosomal mutation. ...Read more