Conditions
The Generation Study will be testing babies for changes in genes linked to more than 200 rare genetic conditions.
These all meet a set of four principles that have guided our approach to choosing conditions. Find out more about our process.
As we learn more from the study and respond to emerging evidence and research, the list of conditions and gene changes we test for may change. Babies in the Generation Study will be tested for the conditions listed at the time they joined the study and will not be re-analysed if this list changes.
This list includes more than 200 individual conditions caused by genetic changes in around 500 different genes. The latest full list of conditions is provided in alphabetical order below.
Current list publication date: February 2025
Since early 2024, we have been reaching out to specialty clinical groups and patient organisations to consider any conditions that may require review or that have not been previously considered for inclusion in the study. These would need to meet our study’s four principles and follow the same approval process.
If you have any questions about the conditions tested in the study or wish to view previous versions of the list, please contact us via our Service Desk.
Conditions (J-L)
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Kenny-Caffey syndrome, type 2 (1 gene)
Gene Condition FAM111A Kenny-Caffey syndrome, type 2 -
LIG4 Syndrome (1 gene)
Gene Condition LIG4 LIG4 Syndrome -
Leptin deficiency (1 gene)
Gene Condition LEP Leptin deficiency -
Leptin receptor deficiency (1 gene)
Gene Condition LEPR Leptin receptor deficiency -
Leukocyte adhesion deficiency (2 genes)
Gene Condition FERMT3 Leukocyte adhesion deficiency, type III ITGB2 Leukocyte adhesion deficiency, type I -
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (1 gene)
Gene Condition FLAD1 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency -
Lipoid adrenal hyperplasia (1 gene)
Gene Condition STAR STAR deficiency (congenital lipoid hyperplasia) -
Long Chain Hydroxyacyl CoA Dehydrogenase Deficiency, LCHAD (1 gene)
Gene Condition HADHA LCHAD deficiency -
Lysinuric protein intolerance (1 gene)
Gene Condition SLC7A7 Lysinuric protein intolerance -
Lysosomal acid lipase deficiency (1 gene)
Gene Condition LIPA Lysosomal acid lipase deficiency