Table-II.

Laboratory characteristics of the studied patients.

Patients	Haemoglobin (g/dl)*	Platelets (x103/ul)**	Liver Function Tests***	Skeletal Survey†	Enzyme assay	Molecular study
1	10.4	345	Abnormal	Normal	135.9‡	Negative◊
2	11.5	120	Normal	Normal	183‡	Negative◊
3	10.2	627	Abnormal	Normal	185.4‡	Negative∞
4	11.2	221	Normal	Normal	64.7‡	Negative◊
5	9.6	70	Normal	Normal	197.2‡	Negative◊
6	6.6	52	Normal	Normal	192.4‡	Negative◊
7	11.1	183	Normal	Normal	152.7‡	Negative€
8	9.6	75	Abnormal	Normal	3.5¥	Negative◊
9	5.8	30	Normal	Normal	18.37‡	Negative◊
10	9.9	97	Normal	Normal	18.98‡	Negative◊
11	7.5	70	Abnormal	Normal	104.36‡	Negative∞
12	8.8	130	Normal	Normal	2.5©	Positive∞
13	11.1	174	Normal	Normal	4.8©	Positive∞

^*Hb normal values (12-18) g/dl,

^**Platelets normal values (145-450 x10³/ul),

^***Liver Function Tests include total serum bilirubin, liver enzymes, coagulation profile and total serum protein.

^†Skeletal survey regarded as normal due to the absence of signs of Gaucher disease like growth retardation in children, osteopenia, lytic lesions, pathologic fractures, bone pain, osteonecrosis, cortical and medullary infarcts and evidence of bone crises.

^‡Normal values 200 – 2000 Pmol/spot*20hour

^¥Normal Values 5 – 47nmol/ml/hour

^∞PCR amplification and sequencing of all coding exons and flanking and intronic regions in GBA gene.

^€PCR and reverse hybridization of 8 common mutations of GBA gene.

^©Normal cut off values > 1.5 umol/L/hour

^◊NGS-Illumina for all GBA gene mutations.