By Disease

Neurology

CODE TEST METHOD TAT
MGM229 TSC1 & TSC2 gene analysis NGS 4 WEEKS
MGM230 TSC1 & TSC2 gene analysis Sanger 6 WEEKS
MGM231 TSC1 deletion/duplication analysis MLPA 3 WEEKS
MGM232 TSC1 gene analysis Sanger 4 WEEKS
MGM233 TSC2 deletion/duplication analysis MLPA 3 WEEKS
MGM234 TSC2 gene analysis Sanger 4 WEEKS
EPILEPSY
MGM109 Benign infantile epilepsy gene panel NGS 6 WEEKS
MGM110 Dravet syndrome gene panel NGS 4 WEEKS
MGM111 Dravet syndrome (SCN1A) deletion/duplication analysis MLPA 3 WEEKS
MGM112 Epileptic encephalopathy gene panel NGS 6 WEEKS
MGM113 Familial female mental retardation/epilepsy gene panel NGS 4 WEEKS
MGM114 Progressive myoclonic epilepsy gene panel NGS 3 WEEKS
LEUKODYSTROPHIES
MGM115 Adrenoleukodystrophy gene panel NGS 4 WEEKS
MGM116 Canavan disease (ASPA) gene analysis NGS 4 WEEKS
MGM117 Canavan disease (ASPA) deletion/duplication analysis MLPA 3 WEEKS
MGM118 Hypomyelination syndrome gene panel NGS 6 WEEKS
MGM119 Krabbe disease (GALC) gene analysis NGS 4 WEEKS
MGM120 Krabbe disease (GALC) deletion/duplication analysis MLPA 6 WEEKS
MGM121 Leukodystrophy gene panel NGS 6 WEEKS
MGM122 Metachromatic leukodystrophy gene panel NGS 6 WEEKS
MOVEMENT DISORDERS
MGM123 Ataxia-telangiectasia (ATM) deletion/duplication analysis MLPA 3 WEEKS
MGM124 Ataxia-telangiectasia (ATM) gene analysis NGS 4 WEEKS
MGM125 Dystonia gene panel NGS 6 WEEKS
MGM126 Early-onset juvenile parkinsonism gene panel NGS 6 WEEKS
MGM127 Episodic ataxia gene panel NGS 6 WEEKS
MGM128 Hyperekplexia gene panel NGS 6 WEEKS
MGM129 Pantothenate kinase-associated neurodegeneration (PANK2) deletion/duplication analysis MLPA 3 WEEKS
MGM130 Pantothenate kinase-associated neurodegeneration gene panel NGS 6 WEEKS
NEUROMUSCULAR
MGM131 Arthrogryposis & congenital myasthenic syndrome gene panel NGS 6 WEEKS
MGM132 Charcot-Marie-Tooth and sensory neuropathies gene panel NGS 6 WEEKS
MGM133 Charcot-Marie-Tooth and 1A/HNPP (PMP22, COXI0, TEKT3) deletion/duplication analysis MLPA 3 WEEKS
MGM134 Charcot-Marie-Tooth PMP22 deletion/duplication analysis MLPA 3 WEEKS
MGM135 Congenital Muscular Dystrophy (LAMA2) deletion/duplication analysis MLPA 3 WEEKS
MGM136 Duchenne Muscular Dystrophy (DMD) deletion/duplication analysis MLPA 3 WEEKS
MGM137 Duchenne Muscular Dystrophy (DMD) gene sequencing NGS 4 WEEKS
MGM138 Dysferlinopathy/LGMD2A (CAPN3) deletion/duplication analysis MLPA 3 WEEKS
MGM139 Dysferlinopathy/LGMD2B (DYSF) deletion/duplication analysis MLPA 3 WEEKS
MGM140 Limb-girdle muscular dystrophy deletion/duplication analysis (SGCA, SGCB, SGCD, SGCG & FKRP) MLPA 3 WEEKS
MGM141 Muscular dystrophy & congenital myopathy gene panel NGS 4 WEEKS
MGM142 Myotonia congenita gene panel NGS 4 WEEKS
MGM143 Spinal Muscular Atrophy (SMN1/SMN2) deletion/duplication analysis MLPA 3 WEEKS
MGM144 Spinal Muscular Atrophy (SMN1) gene analysis Sanger 4 WEEKS
OTHERS
MGM145 4H syndrome gene panel NGS 6 WEEKS
MGM146 Aicardi-Goutieres syndrome gene panel NGS 6 WEEKS
MGM147 Cockayne syndrome gene panel NGS 6 WEEKS
MGM148 Comprehensive neurology panel NGS 6 WEEKS
MGM149 Congenital hydrocephalus gene panel NGS 6 WEEKS
MGM150 Cystic megalencephaly (MLC1) gene analysis NGS 4 WEEKS
MGM151 Familial hemiplegic migraine gene panel NGS 6 WEEKS
MGM152 Hereditary spastic paraplegia gene panel NGS 6 WEEKS
MGM153 Joubert syndrome gene panel NGS 6 WEEKS
MGM154 Lissencephaly gene panel NGS 6 WEEKS
MGM155 Microcephaly gene panel NGS 6 WEEKS
MGM156 Neuronal ceroid lipofuscinosis gene panel NGS 6 WEEKS
MGM157 Neuronal migration disorder gene panel NGS 6 WEEKS
MGM158 NOTCH3 (CADASIL) gene analysis NGS 4 WEEKS
MGM159 NOTCH3 (CADASIL) gene analysis – 2 exons (2 & 3) Sanger 10 DAYS
MGM160 Pontocerebellar hypoplasia gene panel NGS 6 WEEKS
MGM161 Rett Syndrome (MECP2) deletion/duplication analysis MLPA 3 WEEKS
MGM162 Rett Syndrome (MECP2) gene panel NGS 4 WEEKS
MGM163 Tay–Sachs disease (HEXA) deletion/duplication analysis MLPA 3 WEEKS
MGM164 Tay–Sachs disease (HEXA) gene analysis NGS 4 WEEKS
MGM165 X-linked spastic paraplegia-2 (PLP1)
deletion/duplication analysis
MLPA 3 WEEKS
MGM166 X-linked mental retardation gene panel NGS 6 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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