Fanconi’s Anaemia – bone marrow cell/peripheral blood lymphocyte karyotype analysis

Applied in cases where patients present with a Fanconi’s anaemia phenotype. Testing includes analysis of at least 300 metaphases of peripheral blood lymphocytes or bone marrow cells, following the application of a special protocol using mitostatic substances.

The test evaluates the percentage of chromosomes exhibiting fragility.

See also Genomic testing for Fanconi anemia – 15 genes NGS panel