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NEUROMETABOLIC DISORDER

About 50% of the genetic disorders are undiagnosed. Genetic disorders involve several neurometabolic disorders such as epilepsy or seizure disorders, ataxia, metabolic disorders, myopathies, muscular dystrophies, storage disorders and chromosomal disorders. Diagnosis of these conditions is possible through genetic tests such as new born screening, cytogenetic tests such as karyotyping and FISH, Microarray, MLPA and Next generation sequencing. Diagnosis of genetic disorders along with Genetic counseling will aid in making better reproductive decisions and in better management of the disorder. Pre-natal screening tests such as NT scan, double marker, triple marker and quadruple marker and diagnostic tests such as NIPT (Non-Invasive Pre-natal Testing), amniocentesis and Chorionic Villus Sampling (CVS) will help diagnose a genetic condition early in the pregnancy.



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