NTGHL005 
   Clinical genetic testing methods
    Information for healthcare 
       professionals
                           Methodologies
       National Health Service England (NHSE) National Test 
       Directory  (TD)  ‘genetic’  testing  methodologies  are 
       grouped broadly into two categories depending on the 
       type of abnormality being measured:
       (1) Cytogenetic - detect abnormalities in chromosome 
           structure
       (2) Molecular - detect abnormalities in DNA sequence.
    NTGLH005 - Clinical genetic testing methods
                  cytogenetic
                  molecular
    NTGLH005 - Clinical genetic testing methods
                                        TD test methods
      Genetic test type   Genetic test method                                        Example
      Cytogenetics        DNA repair defect (breakage)                               Nijmegen breakage
      Cytogenetics        Fluorescent in situ hybridization (FISH)                   EWSR1 rearrangement
                                                                                     Disorders of sexual 
      Cytogenetics        Karyotype                                                  development/infertility
                                                                                     Developmental delay/learning 
      Cytogenetics        Chromosomal microarray analysis (CMA)                      difficulties
                          Quantitative fluorescence PCR (QF-PCR)                     Haematological tumour, RUNX1-
      Cytogenetics                                                                   RUNX1t1 
                                                                                     Haematological tumour, BCR-ABL1 
      Molecular           Complex targeted variant1                                  TKD seq
      Molecular           Identity                                                   Identity
      Molecular           Methylation2,3                                             X-inactivation
      Molecular           Microsatellite instability2                                Solid tumour MSI testing
      Molecular           Multiplex ligation-dependent probe amplification (MLPA)2   Prader-Willi syndrome
      Molecular           Non-invasive prenatal genetic diagnosis (NIPD)3            NIPD for cystic fibrosis
                                                                                     Neutropenia consistent with ELANE 
      Molecular           Single gene/(simple) targeted variant sequencing1          mutations
                                                                                     Sarcoma multi-target, H3F3A, 
      Molecular           Small panel3                                               H3F3B, IDH1, IDH2
      Molecular           Small Tandem Repeat (STR)1                                 Fragile X
      Molecular           uniparental disomy (UPD)2                                  Prader-Willi syndrome
      Molecular           Whole exon sequencing (WES) or large panel3                Hypertrophic cardiomyopathy
      Molecular           Whole genome sequencing (WGS)3                             Eligible rare disease or cancer
     NTGLH005 - Clinical genetic testing methods
                Cytogenetic methods detect 
               abnormalities in chromosome 
                                  structure
    NTGLH005 - Clinical genetic testing methods