By Disease

Metabolic Disorders

CODE TEST METHOD TAT
MGM073 Citrullinemia gene panel NGS 6 WEEKS
MGM074 Fanconi bickel syndrome (SLC2A2) gene analysis NGS 4 WEEKS
MGM075 Fatty acid oxidation disorders gene panel NGS 6 WEEKS
MGM076 Gilbert syndrome (UGT1A1) gene analysis
(both point mutation and repeat analysis)
NGS/Fragment
analysis
4 WEEKS
MGM077 GLUT1 deficiency (SLC2A1) deletion/duplication analysis MLPA 3 WEEKS
MGM078 GLUT1 deficiency (SLC2A1) gene analysis NGS 4 WEEKS
MGM079 Glycine encephalopathy (GLDC) deletion/duplication analysis MLPA 3 WEEKS
MGM080 Glycine encephalopathy gene panel NGS 6 WEEKS
MGM081 Glycogen storage disorder gene panel NGS 6 WEEKS
MGM082 Glycosylation (CDG) disorders gene panel NGS 6 WEEKS
MGM083 Hemochromatosis gene panel NGS 6 WEEKS
MGM084 Homocystinuria gene panel NGS 6 WEEKS
MGM085 Hypercholesterolemia gene panel NGS 6 WEEKS
MGM086 Hyperargininemia (ARG1) gene analysis NGS 4 WEEKS
MGM087 Leigh syndrome & mitochondrial encephalopathy gene panel NGS 6 WEEKS
MGM088 Maple syrup urine disease gene panel NGS 6 WEEKS
MGM089 McArdle disease (PYGM) gene analysis NGS 6 WEEKS
MGM090 Menkes disease (ATP7A) deletion/duplication analysis MLPA 3 WEEKS
MGM091 Menkes disease (ATP7A) gene analysis NGS 4 WEEKS
MGM092 Methylmalonic aciduria gene panel NGS 6 WEEKS
MGM093 Mucopolysaccharidosis gene panel NGS 6 WEEKS
MGM094 Neurometabolic disorder (MLC1, L2HGDH, D2HGDH, MLYCD) deletion/duplication analysis MLPA 3 WEEKS
MGM095 Niemann-Pick disease gene panel NGS 6 WEEKS
MGM096 Organic acidemia gene panel NGS 6 WEEKS
MGM097 Peroxisomal disorder gene panel NGS 4 WEEKS
MGM098 Pompe disease (GAA) deletion/duplication analysis NGS 3 WEEKS
MGM099 Pompe disease (GAA) gene analysis NGS 4 WEEKS
MGM100 Progressive familial intrahepatic cholestasis gene panel NGS 6 WEEKS
MGM101 Urea cycle defects gene panel NGS 6 WEEKS
MGM102 Wilson disease (ATP7B) gene analysis NGS 4 WEEKS

GENETIC TEST SELECTION LIST:

NGS : Next-Generation Sequencing, Sanger : Sanger Sequencing, MLPA : Multiplex Ligation-dependent Probe Amplification, RT-PCR : Real-Time PCR, IHC : Immunohistochemistry

Click on the link below to know about Sample Requirement

SAMPLE REQUIREMENT

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