NIPD for single gene disorders

NIPD for achondroplasia, thanatophoric dysplasia and Apert syndrome (ie FGFR 2 and 3 alterations) are currently available through the NHS.

These tests are proving to be highly accurate and it is not recommended that invasive tests are needed to confirm the NIPD result. For details about these available tests, see our factsheets on skeletal dysplasias and Apert syndrome.

NIPD for cystic fibrosis to exclude paternal inheritance of the altered gene is available on a research basis. Please contact the North East Thames Regional Genetics laboratory at Great Ormond Street Hospital.