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Wiskott aldrich syndrome protein mutation analysis
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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?
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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 28-year old asked:
Do all children and teens eventually outgrow FPIES (food protein induced enterocolitis syndrome)?
1 doctor answer • 4 doctors weighed in
A 39-year old asked:
Does a child have Klinefelter syndrome due to his own mutation or due to mutations his parents carry?
1 doctor answer • 6 doctors weighed in
A 36-year old female asked:
My 13y/o daughter has type1dm.she has these eat pits on both ears and has some protein in her urine. Could she have lachiewicz-sibley syndrome?
1 doctor answer • 2 doctors weighed in
A 30-year old male asked:
Urine analysis:No Protein, urine creatinine randm: 304 High(ref 58-161),renal pro: creatinine 87(ref 50-110) should i be concern.Currently on SLE med?
1 doctor answer • 1 doctor weighed in
A 19-year old female asked:
Can you show me more than 5 syndromes that are cause by DNA mutation such as Down Syndrome, etc??
2 doctor answers • 4 doctors weighed in
A 35-year old asked:
Is there a mutation with certain grandparents that can cause asperger syndrome in their grandchildren?
1 doctor answer • 1 doctor weighed in
A 21-year old female asked:
My daughter has food protein induced entercolitis syndrome and cant eatwithout throwing up whatcan I do?
1 doctor answer • 1 doctor weighed in
A 48-year old asked:
Heard about some NIH lab animals doing better by taking high protein when they had trisomy gene. Will that work for a child with Down Syndrome?
1 doctor answer • 6 doctors weighed in
A 46-year old asked:
Is there a protein affected in fragile x syndrome?
1 doctor answer • 3 doctors weighed in
A 29-year old asked:
What is the name of the protein coded for by gene in williams syndrome?
2 doctor answers • 4 doctors weighed in
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 asked:
Will cystic fibrosis mutation test detect down syndrome during pregnancy?
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 34-year old asked:
Can mutations in certain grandparents cause Asperger syndrome in grandchildren?
1 doctor answer • 3 doctors weighed in
A 29-year old female asked:
Hi went for an urine analysis the report showed trace protein is it worrying? I'm 29 female
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 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 22-year old female asked:
im suffering with cough n from my pleural fluid analysis Total proteins : 5.60gms% ADA levels: 92 units/L Cell type :L70%,H 30% what dose it mean
2 doctor answers • 3 doctors weighed in
A 24-year old female asked about a 34-year old female:
OB said based on my blood protein checking for risk of birth defects like Down syndrome or spinabifida my risk is 1 out of 189. Is this a high risk?
1 doctor answer • 1 doctor weighed in
A 32-year old asked:
Which type of mutation causes down syndrome?
1 doctor answer • 1 doctor weighed in
A 35-year old male asked about a 45-year old male:
Bp:100-160 sugar:100-110 urine chem 24 hrs urine for protein:4260mg/24hrs 24 hrs urine for creatinine clearance:65ml/min s.creatinine:1.8mg/dl treat.?
1 doctor answer • 1 doctor weighed in
A 33-year old female asked:
If I have a Protein S deficiency do I need to take blood thinners?
1 doctor answer • 2 doctors weighed in
A 29-year old female asked:
My platelet count is 154, it was 320 4 months ago plus I have protein S def. I've been bruising a lot lately should I worry?
1 doctor answer • 1 doctor weighed in
A 42-year old male asked:
Follow up on my blood work came out good, protein, bun, apo b, hscrp, lp (a), sdldl & ldlp r high- hdl2, large hdl -p & hdl size are low.?
1 doctor answer • 2 doctors weighed in
A 46-year old female asked:
Urine chemistry the specific gravity is 1.010 there was infection protein glucose ketones all NIL does the S.G. Means definetly kidney failier?
1 doctor answer • 1 doctor weighed in
A 46-year old female asked:
I had gastric sleeve surgery and am experiencing low blood sugars in the 50's & 60's. I feel I am eating properly high protein/complex carbs??
1 doctor answer • 1 doctor weighed in
A 26-year old male asked:
Is there any time gap before coagulation tests like protein c and s to be done after a young stroke?
1 doctor answer • 1 doctor weighed in
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