A branch of genetic testing that is concerned with testing of genetic disorders at the gene level. These disorders are caused by mutation or variation in DNA sequencing of a specific gene. Some mutations can lead to serious conditions affecting the survival of the child or restricts the quality of life, while other mutations may cause milder symptoms.
The molecular genetics laboratory can provide various carrier detection testing that can identify whether a person is normal, carrier or affected, therefore it is advised for couples who are planning to do molecular PGD testing or for individuals with family history of known mutation and planning to get married and have children.
Carriers of mutation are not affected themselves but they have a high risk to pass the mutation to their children. Carrier couples who plan to have a child prefer to use molecular PGD testing which will be helpful to manage and prevent passing the mutation to their children which will increase their chances of having a healthy baby .
Types of Molecular testing:
- Target Mutation Detection.
- Full gene sequencing.
- Genetic Disease Panel.
- Whole Exome Sequencing.
- Whole Genome Sequencing.
