Genetics Testing at OneWelbeck

1) To provide an accurate diagnosis

Certain disorders can only definitively be diagnosed using genetic testing. Having a clear diagnosis can provide answers and helpful information to families.

2) To decide on the best treatment

Genetic testing, in some instances, can provide essential information needed to guide treatment options.

3) To empower reproductive decision making
The results from genetic tests allow informed decision making when it comes to starting a family, and in some instances may enable other reproductive options (i.e. preimplantation genetic diagnosis)

4) To provide access to screening and intervention treatments

In certain genetic conditions which have a late-onset, for example hereditary cancer syndromes, access to additional screening and risk reducing treatments may be available.

Genetic testing techniques can be broadly split into different types:

• Chromosome analysis

A variety of methods are used to look for gains, losses or structural changes of the chromosomes.

• DNA analysis

A variety of methods are used to assess the DNA sequence of interest. Methods may target a specific region down to a single base pair of DNA, or may sequence the entire genome.

• Diagnostic testing

Confirmation of a diagnosis in a symptomatic individual.

• Carrier testing

Testing typically offered to individuals with a family history of a genetic disorder, and to individuals in populations with an increased risk of specific genetic conditions. Testing of both parents can provide information about a couple’s chance of having a child with a genetic condition.

• Predictive testing

Testing typically offered to individuals with a family history of a genetic disorder, which can identify if an individual is at risk of developing a disease prior to the onset of symptoms.

• Prenatal testing

Used to detect changes in a fetus’ gene(s) or chromosome(s). This testing is offered to couples who are known to have an increased risk for a specific genetic condition (i.e. family history), or where screening methods have identified a couples is at an increased risk of having a baby with a genetic or chromosomal disorder.

• Pharmacogenomic testing

Used to determine how an individual may respond to a particular treatment, if they are likely to suffer severe side effects or to determine the correct dose.

• Monitoring tests

Used to check how an individual is responding to treatment.

• More than 25 years of experience in clinical genetic testing
• Fast turnaround time and reporting
• Use of world leading genetic technologies
• Easy logistic solutions from sample sending to report delivery
• Connected to the broad diagnostic capabilities of the Unilabs Group
• Large catalogue of genetic tests for all medical specialties
• Dedicated consultant clinical geneticist, consultant clinical scientist and customer service

Click here to access our pathology test library

Due to the complexity of genetics results, it is always recommended that results be communicated by a consultant.

Genetic diagnoses not only have implications for the individual tested, but also for their family, and in some instances additional follow up testing may be required. Therefore, when reporting patients with a genetic diagnosis, we will usually recommend that patients are referred to a genetics service to discuss any relevant implications for the wider family or reproductive decision making, facilitate additional testing as required and coordinate cascade testing in the family as appropriate.