Amino acid (Qualitative)

 Ammonia

Biotinidase

Canavan Disease

5 Chitotriosidase enzyme activity

Cystic Fibrosis

Immuno reactive trypsinogen

Duchenne Muscular dystrophy (DMD)

Extend Metabolic Screening

Fabry Disease

 α – galactosidase enzyme assay

GLA Gene mutations

 Fragile X mutations

 Free Sialic Acid in Urine

 Galactosemia (Total Galactose)

Galactosemia enzyme profile

Galactokinase

UDP-galactose-4-epimerase

Galactose-1-phosphate uridyl transferase

Gaucher’s Disease

β-glucosidase enzyme assay

Chitotriosidase enzyme assay

Gb1 Biomarker

GBA Gene mutations

Glycogen Storage Disease (GSD)

Hereditary Tyrosinemia (Type I)

Delta amino leuveolinic acid

Homocysteine

Hunter Disease

Iduronate-2-sulfatase

Hurler, Sheie

α-l-iduronidase enzyme assay

IDUA Gene mutations

Neuronal ceroid lipofuscinosis

Chitotriosidase

Palmitoyl-protein thioestrase 1(CLN 1) Tripeptidyl-peptidase (CLN 2)

Karyotype

Krabbe Disease

β-galactocerebrosidase

Chitotriosidase

23 Lactate

Lysosmal Storge Screeninig

β-glucosidase Activity

Chitotriosidase Activity

Sphingomylinase activity

β-Galactocerebrosidase Activity

β-Galactosidase Activity

α-galactosidase

Arylsuphatase A activity

Acid maltase OR α-glucosidase

Lyso-metabolic

Maroteaux-Lamy Disease

Arylsuphatase B (ASB) enzyme assay

ARSB gene mutations

Med Fever gene analysis

Metachromatic Leucodystrophy

Arylsulphatase A (ASA)

Morquio

Galactose-6-sulfatase enzyme assay

GALNS gene mutations

Mucolipidosis

GNPTAB gene mutations

Mucopolysaccharidosis (MPS)

Quantitative determination of GAGs

Electrophoresis separation of GAGS

Niemann Pick Disease (NPD)

β-glucosidase enzyme assay

Chitotriosidase enzyme assay

Sphingomylinase enzyme assay

NPC1 gene mutations (NPD type C)

Oligosaccharides

Organic acids profile

Phenylketonuria (PKU)

PKU gene mutations

Plasma Aminogram (Qualitative)

Pompe Disease

Acid maltase OR α-glucosidase

GAA gene mutations

Pyruvate

Sanfilippo type A

N-Sulphoglucosamine Sulphohydrolase

 SGSH gene mutations

Sanfilippo type B

N-Acetyl-α-glucoseamindase

NAGLU gene mutations

Separation of sugar

Succinylacetone

Spinal Muscular Atropy (SMA)

Tay-Sachs & Sandhoff Disease (GM2)

Hexosaminidase A

Hexosaminidase B

Urine Aminogram (Qualitative)

Whole exome sequencing (WES)

Wolman disease

Chitotriosidase

Acid Lipase

α -Fucosidase

α-Mannosidase

β-galactosidase (GMI)

β-Mannosidase