- Patients referred for Fanconi anaemia chromosome breakage testing, but who are negative for elevated chromosome breakage with mitomycin C/diepoxybutane
- Patients with two or more of the following clinical features which overlap with Fanconi:
- Skin: hyperpigmentation; Cafe au lait spots; Hypopigmentation
- Microsomia: short stature
- Upper limbs: Absent/hypoplastic thumbs or radii
- Head and face: Microcephaly; micrognathia
- Hypogenitalia in males or females
- Renal: Ectopic or pelvic; abnormal, horseshoe
- Haematology: Unexplained cytopenia
- Patients referred for Fanconi anaemia chromosome breakage testing, who are positive for elevated chromosome breakage with mitomycin C/diepoxybutane.
Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes
- chromosome breakage analysis with mitomycin C/diepoxybutane
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List