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Yazan Alhourani

Yazan Alhourani

Licensed Physician

الأسئلة المجابة 75463 | نسبة الرضا 98.7%

Doctor

Hi doctor my sister made a FMF Gene study and The...

تم تقييم هذه الإجابة:
Hi doctor my sister made a FMF Gene study and The result: HOMOZYGOUS MUTATION (2040 G>C)(M680I G/C)The assay covers 12 mutations in FMF Gene at:Condon E148 QCondon P369 SCondon E479 LCondon M680 I (G/C),M680 I (G/A)Condon I 692 delCondon M694 V, M 694 ICondon K695 RCondon V 726 ACondon A 744 SCondon R 761 HCould you please tell me what that me?
Doctor's Assistant: Have you seen a doctor about this yet? What medications are you taking?
I will go to the doctor tomorrowBut now l want to know about the result Is it good or not
Doctor's Assistant: Anything else in your medical history you think the doctor should know?
My sister has 9 years

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إجابة الخبير: Yazan Alhourani

Yazan Alhourani

Yazan Alhourani

Licensed Physician

الأسئلة المجابة 75463 | نسبة الرضا 98.7%

Dear Customer
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what is the meaning of the gene study results :

"HOMOZYGOUS MUTATION (2040 G>C)(M680I G/C) The assay covers 12 mutations in FMF Gene at: Condon E148 Q Condon P369 S Condon E479 L Condon M680 I (G/C),M680 I (G/A) Condon I 692 del Condon M694 V, M 694 I Condon K695 R Condon V 726 A Condon A 744 S Condon R 761 H"
the meaning : its found there is some changes in genes ( mutations ) that may be a confirmation for the diagnosis 

is the results good or not :

doctors cant only rely on gene study , although its a one way to confirm the diagnosis , and there is no good or bad result depends on the result , its only may help to understand the medical condition or what possible causes or other related health issues may occer 

is this report enough for the diagnosis or treatment ?

as you know , FMF cant be cured , and medication can be only taken lower the incidence of symptoms or lower its severty , and usually doctor use other test to confirm the diagnosis beside rolling out other diseases , which including :
1. blood work
2. family history 
3. physical examnation
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Kind Regards

إسأل Licensed Physician

Yazan Alhourani

Yazan Alhourani

Licensed Physician

الأسئلة المجابة 75463 | نسبة الرضا 98.7%

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  • انضم الى 8 مليون من العملاء الراضين
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