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...Ntghl clinical genetic testing methods information for healthcare professionals methodologies national health service england nhse test directory td are grouped broadly into two categories depending on the type of abnormality being measured cytogenetic detect abnormalities in chromosome structure molecular dna sequence ntglh method example cytogenetics repair defect breakage nijmegen fluorescent situ hybridization fish ewsr rearrangement disorders sexual karyotype development infertility developmental delay learning chromosomal microarray analysis cma difficulties quantitative fluorescence pcr qf haematological tumour runx runxt bcr abl complex targeted variant tkd seq identity methylation x inactivation microsatellite instability solid msi multiplex ligation dependent probe amplification mlpa prader willi syndrome non invasive prenatal diagnosis nipd cystic fibrosis neutropenia consistent with elane single gene simple sequencing mutations sarcoma multi target hfa small panel hfb idh t...