TDL Genetics

TDL Genetics is a consultant-led service with extensive expertise in the testing, diagnosis and genetic counselling of inherited disorders.

Genetic tests are performed on DNA for molecular genetic analysis and on whole chromosomes for cytogenetic analysis. Some tests are part of profiles that can be linked with assays from other TDL disciplines, such as biochemistry and haematology, to give more comprehensive results for the patient.

Genetic tests are available for:

• Prenatal diagnosis and rapid trisomy screening by QF-PCR (Amnio-PCR and CVS-PCR)
• Carrier screening
• Newborn chromosome analysis
• Confirmation of symptomatic individuals and pre-symptomatic testing
• Genetic variation that influences risk of disease
• Identity studies (paternity, zygosity, tissue typing)
• Fertility studies
• Products of conception (click to view PDF)
• Cancer

Genetic testing is sometimes complex and tests will vary in their ability to detect variants or to detect all patients who have, or will develop, the disease.  Some tests are diagnostic for a condition, others are indicative or are associated with an altered risk for a condition. Results can affect the lives of individuals and have implications for their family, for insurance and employment. Where testing will predict the inheritance of a disease in a healthy person, counselling and consent are mandatory. For these tests, please complete the Genetic Request form (including informed consent). Our service provides result interpretation and risk assessment. Genetic counselling can be arranged by TDL’s Consultant Clinical Geneticist. 

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