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A member asked:
What is the definition or description of: Thrombophilia DNA mutation analysis?
1 doctor answer • 2 doctors weighed in
A 36-year old female asked:
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?
1 doctor answer • 2 doctors weighed in
A member asked:
Will a colorblind woman always have colorblind children? I know the cause is a mutation on the x-chromosome and a woman has to have the mutation on both her xs. So that means all her children will have the colorblind gene. So will her children all be col
1 doctor answer • 2 doctors weighed in
A 30-year old asked:
What is it like to have angelman syndrome? Is it a new mutation in each case?
1 doctor answer • 2 doctors weighed in
A 31-year old asked:
Can achondroplasia occur in adults if the mutation occurs in the fgfr3 gene during adulthood?
1 doctor answer • 2 doctors weighed in
A 21-year old male asked:
Can the following variant mutations in NPC1 gene cause disease: SNPs c.644a>g, c.1926g>c, c.2572a>g, c.2793c>t, c.2911+28t>c, c.3754+34a>g, c.3797g>a?
1 doctor answer • 1 doctor weighed in
A 40-year old asked:
How do a gene mutation and a chromosomal mutation differ?
1 doctor answer • 2 doctors weighed in
A 29-year old asked:
I tested positive for harmful brca 2 mutation....so unsure what to do
1 doctor answer • 14 doctors weighed in
A 34-year old asked:
Can anyone explain what a1298c homozygous genetic mutation could cause?
1 doctor answer • 1 doctor weighed in
A 42-year old asked:
What is the difference between a mutation and a chromosomal abnormality?
1 doctor answer • 2 doctors weighed in
A 34-year old asked:
Can mutations in certain grandparents cause Asperger syndrome in grandchildren?
1 doctor answer • 3 doctors weighed in
A 28-year old female asked:
Can you have both brac mutation, one and two , and if so what is the risk for cancer than ?
1 doctor answer • 1 doctor weighed in
A 34-year old asked:
Is Marfan's syndrome a genetic mutation?
2 doctor answers • 7 doctors weighed in
A 40-year old asked:
What type of mutations that cause hemophilia A?
1 doctor answer • 2 doctors weighed in
A 43-year old asked:
Is williams syndrome a gene or chromosomal mutation ?
1 doctor answer • 3 doctors weighed in
A 35-year old asked:
What chromosomal mutation results in alagille syndrome?
2 doctor answers • 3 doctors weighed in
A 44-year old asked:
Can you tell me, are all brca gene mutations hereditary?
1 doctor answer • 3 doctors weighed in
A 49-year old asked:
What is the mechanism by which mutations to the cell clock cause cancer?
1 doctor answer • 2 doctors weighed in
A 36-year old asked:
Is neurofibromatosis a polygenic disorder, or is there a single mutation?
1 doctor answer • 19 doctors weighed in
A 54-year old female asked:
What will happen to patient with positive Jak2 mutation assay? Thank you
1 doctor answer • 1 doctor weighed in
A 32-year old male asked:
Can mutations in HLA genes cause people to be predisposed to possibly developing an autoimmune condition?
1 doctor answer • 5 doctors weighed in
A 33-year old asked:
Is it yet known what genes make one likely to get asthma? Are some of the genetic mutations known and can be tested for?
2 doctor answers • 8 doctors weighed in
A 36-year old asked:
Is there a type of mosaic down syndrome that doesn't require the mutation to come from either parent to have a downs child?
2 doctor answers • 2 doctors weighed in
A 27-year old female asked:
Does having the MTHFR gene mutation put me at risk for life threatning illness more than the average person? is there anything i can do 2 help
1 doctor answer • 2 doctors weighed in
A 50-year old asked:
What does the medical community make of the mthfr genetic mutation? I had a doctor tell me that they no longer look at it or feel it is a problem
2 doctor answers • 3 doctors weighed in
A 30-year old asked:
Can a baby inherit Fanconi anemia or is it a new mutation?
1 doctor answer • 3 doctors weighed in
A 47-year old asked:
Must both parents have a point mutation in their cf genes in order to create a child with cf?
1 doctor answer • 3 doctors weighed in
A 34-year old asked:
Does mthfr heterozygous c677t mutation affect pregnancy?
3 doctor answers • 9 doctors weighed in
A 36-year old female asked:
Can a child inherit 2 CF gene mutations from a symptomless mother and also have no symptoms?
1 doctor answer • 2 doctors weighed in
A 32-year old asked:
Which type of mutation causes down syndrome?
1 doctor answer • 1 doctor weighed in
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