Cytogenetics at Bristol Genetics Laboratory

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

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

Microarray CGH

FISH

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 Cytogenetics

Oncology FISH

Molecular Pathology

Monitoring/MRD

Bone marro (Transport medium)

Blood (EDTA)

FFPE slides/curls
Solid Tumour

Oncology Cytogenetics

Oncology FISH

Molecular Pathology

Bone marro (Transport medium)

Blood (EDTA)

FFPE slides/curls

 

Last Updated: 12th December 2016