Genomic Diagnostics Laboratory

General Diagnostics Genetics

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.

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2015-08-28
Willink Biochemical Genetics User Survey 2015

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2015-01-01
Saint Mary’s Hospital set to deliver world-leading genomics project in fight against cancer and rare diseases