Diagnostic Services

The Genomic Diagnostic Laboratory (GDL) has a unified structure directed by Dr Lorraine Gaunt with four major sub sections (Oncology, Constitutional Genetics, Biochemical Genetics (The Willink Metabolic Unit) and the Bioinformatics Group). The laboratories are managed by a Consultant Scientist and accredited for service by UKAS.

The laboratory offers diagnostic tests for single gene and genomic disorders. Nucleic acid-based tests are available for a wide range of hereditary disorders; following a molecular diagnosis we can provide accurate predictive, carrier and prenatal testing to meet the needs of the family. Cytogenetics based tests are available for prenatal and postnatal diagnosis to detect genetic copy number changes and structural chromosome rearrangements. These tests can often provide a diagnosis for children with unexplained developmental delay or congenital abnormalities or for patients experiencing fertility problems.

To view more information on each area of the Laboratory, select from the tiles below.