Background: Gaucher's disease is the most prevalent of the genetic lysosomal storage disorder. It isan autosomal recessive disease which was described by the French Physician Philippe Gaucher in 1882. Itis caused by a severe deficiency of glucocerebrosidase enzymatic activity with resultant accumulation oflarge quantities of glycolipid, glucocerebrosidase within the lysosomes of the phagocytic cells of themonocyte-macrophage system. Gaucher's disease is classified to three conventional types; Type I: chronicnon-neuropathic form which usually found in adults especially in Jewish population, Type II: infantileneuropathic form which always appears by 6 months of age by rapidly progressive neurological affection,and Type III: juvenile sub-acute neuropathic with slowly progressive neurological disease that begins atchildhood or adolescence.Patients and methods: The presented study includes 20 Gaucher's disease documented patients,they were 10 are males and 10 are females. Their ages ranges from 3 to 43 years. All patients weresubjected to clinical evaluation, revision of their filed clinical progress, radiological and laboratory datahncluding full blood count, B-Glucocerebrosidase enzyme assay, liver enzymes bone marrow and splenicaspirate.. In addition, we studied the most common GBA mutations using strip assay which is based on thereversed-hybridization principle, and includes 3 successive steps: DNA isolation, Then GBA genesequences are in vitro amplified and biotin-labelled in 2 multiplex amplification reactions. Finally theamplification products are selectively hybridized to a test strip, which contains oligonucleotide probes(wild type & mutant specific) immobilized as parallel lines. Bound biotinylated sequences are detectedusing steptavidin-alkaline phosphatase and color substrates. The assay covers 8 of the most frequent GBAmutations: 84GG (452+G), IVS2+1 (484 G>A), N370S (1226 A>G), V394L (1297 G>T), L444P (1448T>C), R496G (1604 G>A), and 2 recombinant alleles (RecNcil, RecTL).Results: The mean ages of the patients was 10.15 years with median age 6 years, the oldest patients was45 years old.The mean age of onset of the disease was 9 months. Equal sex distribution was found amongpatients. Both age of the patients, age of onset of the disease and the sex have no significant relation witheither homozygosity Vs double heterozygosity or the different genotype groups The most commonmutations found in this study were L444P/L444P (homozygous) and L444P/IVS2+1 (doubleheterozygous); 8 patients each (40%) followed by L444P/D409H (double heterozygous) in 3 patients(15%) whereas N370S/N370S (homozygous) was the least mutation found in only 1 patient (5%). Allelefrequency showed that L444Pwas found in 67.5% of studied chromosomes, IVS2+1 in 20% chromosomes,D409H in 7.5% chromosomes, whereas N370s was elicited in only 5% chromosomes. As for family historywe found that 80 % of cases had positive consanguinity while 20% negative, in 45% of patients parentswere first cousins. All homozygous cases showed positive consanguinity 9 cases of 9, whereas only 7 casesof 11 of the double heterozygous showed positive consanguinity. Also all patients with the genotypesL444P/L444P and N370S/N370S were from consanguineous parents; 8 cases of 8 and 1 case of 1respectively. On the other hand all patients with the genotype L444P/D409H had negative consanguinity; 3cases of 3, while the genotype L444P/IVS2+1 showed 7 cases of 8 with positive consanguinity and only 1case with negative consanguinity. Conclusion: Gaucher's disease is the most common glycolipid storage disorder. The mostcommon mutations found in our study are L444P/L444P homozygous and L444P/IVS2+1double heterozygous. L444P is the most common allele. Glucocerbrosidase enzyme assayresults are helpful in interpreting mutation analysis results. Mutation analysis is the method ofchoice for identification of Gaucher’s disease carriers; common mutation screening is themethod of choice for carrier detection. Both age of the patients and onset of the disease have nosignificant relation with either homozygosity Vs.double heterozygosity or the different genotypegroups. Gaucher's disease occurs with equal frequency in males and females. Patients withhomozygous gene mutations tend to have consanguineous parents, also mutations L444P/L444Pand N370S/N370S tend to have consanguineous parents. Neurological manifestations, growthretardation and chest symptoms are the most common clinical conditions reported in studiedcases, less frequently bone & cardiac affection are reported. None of the previous conditions aresignificantly associated with certain genotype.