Registered By: Al Abir

Patient Name: Rana Balhas D.O.B: 1984

Doctor: Dr. SEX: Female

MRN: 509321521 Collection Date:

EXAM NO. 11374 Registration Date: 03/10/2020

Sample Type: Peripheral Blood

MEFV GENE MUTATIONS (x21) PANEL TEST FOR THE FAMILIAL MEDITERRANEAN FEVER

MUTATION RESULT
E84K Homozygous wild type
L110P Homozygous wild type
E148Q Homozygous wild type
E148V Homozygous wild type This panel covers up to about 95% of
E167D Homozygous wild type the MEFV gene mutations in Lebanese,
E230K/Q Homozygous wild type Armenians, Arabs, Turks and North Africans.
T267I Homozygous wild type
P283L Homozygous wild type The test was performed by a combination
G304R Homozygous wild type of the restriction fragment length polymorphisms
P369S Homozygous wild type and the allele-specific probe hybridization
F479L Homozygous wild type methods.
M680I(G/C-A) Homozygous wild type
M694I Homozygous wild type
M694V Homozygous mutant
K695R Homozygous wild type
V726A Homozygous wild type
A744S Homozygous wild type
R761H Homozygous wild type
R408Q Homozygous wild type
Conclusion: The patient is HOMOZYGOUS MUTANT for the M694V mutation in exon 10 ofThe MEFV
gene; this is a risk mutation for FMF
However we can't exclude the existance of an other mutant allele which is not identified yet.
Methodology: Familial Mediterranean Fever (FMF) is an autosomal recessive disorder
charachterized by reccurent attacks of fever and polyserositis.
If affects primarly people of Mediterranean, mostly non-Ashkenazi Jews,
Araps and Turks. The Marenostrin-encoding fever gene (MEFV) was cloned.
Kit analysis Twenty one mtations found in twenty one regions, which has been
in exon 1; E84K, in exon 2; L110P, E148Q, E148V,E167D, E230K/Q, T267I, P283L,
G304R, in exon 3; P369s, in exon 5; F479L and in exon 10; M680I (G/C-A), M694I,
M694V, K695R, V726A, A744S, R761H.