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Doctor insights on: Gsdia 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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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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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

Dr. James Lin Dr. Lin
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Semen Analysis:Vol 3ml,total sperm 35mil/ml,normal morphology 70℅,motility 70%,liquefaction 30min,pH 7.8,pus cells2-3/hpf,RBC1-2/hpf.Is Report normal?

Dr. James Lin Dr. Lin
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Semen Analysis:Vol 3ml,total sperm 35mil/ml,normal morphology 70℅,motility 70%,liquefaction 30min,pH 7.8,pus cells2-3/hpf,RBC1-2/hpf.Is Report normal?

Okay, but...: Your semen analysis is okay, but its parameter is just a rough indicator of fertility since some 50% of its causes lie in female factors; 30%, in male's; 20% in both'female and male factors. So, seek comprehensive evaluation / counseling timely, or contact www.HealthTap.com/dr-Lin with RQPWJC to login; I can help. ...Read more

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I have been diagnosed azoospermia: lh10.55, fsh20.06, test 9.10! karyotyp 46, xy . No klinfelter or y microdeletions. What is the treatment for me?

I have been diagnosed azoospermia: lh10.55, fsh20.06, test 9.10! karyotyp 46, xy . No klinfelter or y microdeletions. What is the treatment for me?

Consult a specialist: When a male fertility expert is consulted as a result of an azoospermia diagnosis, he or she will perform more detailed examinations involving special equipment and techniques. When sperm are found using these techniques, the condition is then called cryptazoospermia. This distinction is very important because it proves that the man is making sperm and that changes his fertility prognosis. ...Read more

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How do a gene mutation and a chromosomal mutation differ?

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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My mother age 48 urine report: albumin +ve , epithelial cell 1-2/hpf, plus cell:1-2/hpf, rbc:10-12/hpf, ph-6........Is condition for kidney biopsy test?

My mother age 48 urine report: albumin +ve , epithelial cell 1-2/hpf, plus cell:1-2/hpf, rbc:10-12/hpf, ph-6........Is condition for kidney biopsy test?

Not cessarily: The urinalysis should be repeated first, if microscopic hematuria( blood in urine) persist, a sonogram or cat scan may be needed to for further evaluation, kidney stone can cause blood in urine, may need to a see a urologist for further evaluation if urinalysis remain abnormal. ...Read more

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Found out I am positive for mutation in brca 1 gene advice needed please?

Found out I am positive for mutation in brca 1 gene advice needed please?

Life planning: This is something to discuss closely w/ your MD. Ovarian CA more likely w/ BRCA1 than BRCA2. Women w/ either BRCA have >50% chance of developing breast cancer. If you have it, get screened with CA-125 blood test, ultrasound, mammogram/MRI, usually starting at age 30. Surgery after childbearing includes removal of the uterus, ovaries, and fallopian tubes, as well as mastectomy. Good luck. ...Read more

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Does mthfr heterozygous c677t mutation affect pregnancy?

Does mthfr heterozygous c677t mutation affect pregnancy?

Likely not much: The existing evidence does not support any strong connection between heterozygotes for either the c or a mutations of mthfr and poor pregnancy outcomes. Homozygotes may well be at greater risk. Depending on clinical history, different levels or surveillance and possible intervention can be considered. ...Read more

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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

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Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

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Variant in mre11a gene found during genetic testing. What does this indicate?

Variant in mre11a gene found during genetic testing. What does this indicate?

Not sure: A lot depends on the situation for which the test was done and what is meant by "variant." mutations of this gene, when inherited from both parents, can cause an extremely rare condition termed "ataxia-telangiectasia-like disorder" where a specific part of the brain, the cerebellum, does not work properly and movements of the arms and legs are wobbly. Show your doctor http://omim.Org/entry/600814. ...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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Is a noninvasive prenatal paternity bloodtest, done with blood from alleged fathers, cfdna and 317.000 genetic markers a reliable test?

Yes: Make sure the identity of the alleged fathers and pregnant mother are confirmed. Make sure no tampering with the blood. Science can reveal the dna. ...Read more

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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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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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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