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 (V-X)
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Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (1 gene)
Gene Condition ACADVL VLCAD deficiency -
Very early onset inflammatory bowel disease (3 genes)
Gene Condition IL10 Interleukin-10 deficiency IL10RB Inflammatory bowel disease 25 IL10RA Inflammatory bowel disease 28 -
Vitamin B6-dependent epilepsy (1 gene)
Gene Condition PLPBP Vitamin B6-dependent epilepsy -
Vitamin D dependent rickets (2 genes)
Gene Condition CYP27B1 Vitamin D-dependent rickets, type I CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation deficiency -
Vitamin D resistant rickets (1 gene)
Gene Condition VDR Rickets, vitamin D-resistant, type IIA -
Wilms Tumour predisposition syndrome (3 genes)
Gene Condition WT1 Wilms Tumour type 1/ Denys-Drash syndrome REST Wilms tumour predisposition TRIM28 TRIM28 related Wilms tumour predisposition -
Wilson Disease (1 gene)
Gene Condition ATP7B Wilson Disease -
Wiskott Aldrich syndrome (1 gene)
Gene Condition WAS Wiskott Aldrich syndrome -
Wolcot-Rallison syndrome (1 gene)
Gene Condition EIF2AK3 multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcot-Rallison syndrome -
X-linked immunodysregulation, polyendocrinopathy, and enteropathy (1 gene)
Gene Condition FOXP3 X-linked immunodysregulation, polyendocrinopathy, and enteropathy -
Xeroderma pigmentosum (8 genes)
Gene Condition DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype ERCC2 Xeroderma pigmentosum, group D ERCC3 Xeroderma pigmentosum, group B ERCC4 Xeroderma pigmentosum, group F ERCC5 Xeroderma pigmentosum, group G POLH Xeroderma pigmentosum, variant type XPA Xeroderma pigmentosum, group A XPC Xeroderma pigmentosum, group C