Genetic Testing


The level of genetic detail required to make a diagnosis will determine the genetic test we recommend. Most genetic tests require a blood sample. Unlike standard blood tests, results may take months to return.

During our consultation, we will discuss which genetic tests are available and the possible outcomes of testing. We will need your written consent to collect and test your DNA , as you have entrusted us withyour genetic information.  Below is a list of genetic tests available to you. We are happy to work through these options with you to understand which test is most likely to give you the answers you need.



Types of Genetic Testing

+ Karyotype Test

Cytogenetic chromosome analysis with direct visualisation of the chromosomes to determine chromosome number and structure/content.

+ Array Comparative genomic hybridisation (CGH)

Molecular chromosome analysis that provides a detailed assessment of chromosome content.

+ Single Gene Test

Targeted testing for a specific condition. A single gene test is recommended when specific features point to one condition cause by one single gene, such as cystic fibrosis or sickle-cell anaemia.

+ Gene Panel

A panel is a single test that simultaneously analyses a number of genes associated with a similar phenotype ( eg, epilepsy, migraine, connective tissue disorders).

+ Whole Exome Sequencing (WES)

The exome is part of the genome that contains the protein coding portions, known as exons. Exome sequencing allows analysis of all coding genes, and variances can be identified against approximately 4,600 medically defined conditions.

+ Whole Genome Sequencing (WGS)

Gives a comprehensive view of the entire genome (sequences both coding and non coding parts of the genome). This analysis is often more expensive when compared to the WES, however, provides more comprehensive information.