Genetic tests

During your appointment we may take blood for testing or ask you to decide whether or not you would like a genetic test.

Basic chromosome test 

Chromosomes are structures made up of hundreds of thousands of genes. Each human cell has 23 pairs of chromosomes, with each pair consisting of one chromosome inherited from our mother and one from our father.

A basic test can identify certain abnormalities, such as missing, extra or rearranged chromosomes.

The results from this test are usually available in four to six weeks. 

Array comparative genomic hybridisation

This is a more detailed chromosome test that can identify very small imbalances, such as missing or extra genetic information. This test is often used when investigating patients who have a complex collection of problems, including developmental delay and learning difficulties. 

The results can sometimes be difficult to interpret and if appropriate we may ask for samples from the parents. The results of this test are usually available in two to three months.

DNA test 

Our genes are made up of DNA (deoxyribonucleic acid) and each gene has a different function. 

A DNA test looks for anomalies in a particular gene or set of genes. Some genetic disorders, mostly rare, are caused by anomalies in individual genes. Testing for these conditions can be complex and we sometimes need to send samples to genetic laboratories elsewhere in the UK or overseas. 

The results from these tests are usually available in two to three months, or sometimes much longer.