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Neurodevelopmental
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
Macrocephaly Panel
Methylation-specific PCR simplifies imprinting analysis.
MS-MLPA for Angelman syndrome
MS-MLPA for Prader-Willi syndrome
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Neurodevelopmental
Non-Specific Intellectual Disability Panel
NSD1 analysis for Sotos syndrome – insights and perspectives from the clinical laboratory.
Pantothenate kinase-associated neurodegeneration has a founder mutation (c.215_216insA) in Indian Agrawal patients.
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