Cytogenetics is the study of human chromosomes. Chromosome studies may be carried out for prenatal diagnosis, helping those with infertility, finding the cause of pregnancy loss and to look for acquired chromosomal changes associated with leukaemia and other cancers. Cytogenetic testing is supplemented by and integrated with a range of molecular genetic, molecular cytogenetic and next generation sequencing technologies appropriate to the patient’s referral pathway.
A basic overview of the cytogenetic services Bristol Genetics Laboratory (BGL) offers is given in the table below.
| Constitutional Genomics: Cytogenetics Services | ||
|---|---|---|
| Referral Category | Testing | Sample Types |
| Reproductive medicine: | ||
|
Disorders of Sexual Development |
Postnatal diagnosis | Blood (5ml lith.hep.) |
| Infertility | Postnatal diagnosis | Blood (5ml lith.hep.) |
| Prenatal diagnosis |
Rapid aneuploidy detection – 48 hours – QF-PCR |
Amniotic Fluid Chorionic Villus Foetal Blood |
| Foetal Abnormality Pregnancy loss |
Solid tissue samples | Skin, Placenta, Products of Conception, Paraffin Embedded Sections Buccal cells |
| Developmental genomics: | ||
| Chromosome breakage disorders (Fanconi anaemia, Ataxia telangiectasia etc.) | Breakage analysis by cytogenetic or next generation sequencing | Blood (5ml lith.hep. and EDTA) |
| Learning Disability and/or Congenital abnormalities |
Rapid aneuploidy detection – 48 hours – QF-PCR |
Blood (5ml EDTA) Blood (5ml lith.hep.) |
| Mosaicism Studies | Solid tissue samples | Tissue in transport media |
| Haemato-Oncology |
Oncology FISH Molecular Pathology Monitoring/MRD |
Bone marro (Transport medium) Blood (EDTA) FFPE slides/curls |
| Solid Tumour |
Oncology FISH Molecular Pathology |
Bone marro (Transport medium) Blood (EDTA) FFPE slides/curls |
Last Updated: 30th December 2019