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.
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: May 2026.
If you have any questions about the conditions tested in the study or wish to view previous versions of the list, please contact us at [email protected].
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 -
Lymphoproliferative syndrome (4 genes)
Gene Condition SH2D1A X-Linked Lymphoproliferative Syndrome 1 XIAP X-Linked inhibitor of apoptosis protein ITK Lymphoproliferative syndrome 1 CD70 Lymphoproliferative syndrome 3 -
Lysinuric protein intolerance (1 gene)
Gene Condition SLC7A7 Lysinuric protein intolerance -
Lysosomal acid lipase deficiency (1 gene)
Gene Condition LIPA Lysosomal acid lipase deficiency