Genetics


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NEW (March 2015): Non-invasive prenatal testing (NIPT) is available for aneuploidy.

 

The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services and have full clinical pathology accreditation (CPA). Together with the  Clinical Genetics Departmentthe laboratories comprise the North East Thames Regional Genetics Service.

 

Comprehensive constitutional chromosome analysis is offered for a range of referrals (postnatal and prenatal) using high density oligonucleotide microarrays, G-banding karyotyping and fluorescence in situ hybridization (FISH).  Other DNA based cytogenetics tests employed by the laboratories include quantitative fluorescence polymerase chain reaction (QF-PCR) and multiplex ligation probe amplification (MLPA).

 

Diagnostic, carrier and predictive testing is offered for a comprehensive range of single gene disorders as well as a DNA banking service whereby samples can be forwarded to external laboratories for approved requests providing funding is available.

 

Non-invasive prenatal diagnosis by fetal sexing is offered for X-linked disorders and NIPD testing is also available for a number of single gene disorders. Non-invasive prenatal testing (NIPT) is available for aneuploidy. In addition, the laboratories are nationally commissioned to provide specialised diagnostic services for Bardet-Biedl syndrome, craniosynostoses, lysosomal storage disorders and severe combined immunodeficiencies.

 

The laboratories have a strong commitment to translational research and new service development and collaborate closely with clinical and academic colleagues within Great Ormond Street Hospital for Children (GOSH), the UCL Institute of Child Health and the UCL Partners academic health science centre.

 

The laboratories are members of the South East of England Genetics Network (SEEGEN) and the United Kingdom Genetic Testing Network (UKGTN).

  

Key Staff

Interim Director of Regional Genetics Laboratories and Head of Service (Molecular Genetics) - Lucy Jenkins FRCPath

Head of Service (Cytogenetics) - Jonathan Waters PhD FRCPath

 

Opening hours

Monday-Friday 9am to 5.30 pm


Contact details

Laboratory Tel: 020 7829 8870

© 2011 Great Ormond Street Hospital for Children NHS Trust