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 (D-F)
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DOCK8 Deficiency (1 gene)
Gene Condition DOCK8 DOCK8 Deficiency -
Diabetes Insipidus (4 genes)
Gene Condition AVPR2 Diabetes insipidus, nephrogenic, 1 AQP2 Recessive diabetes insipidus, nephrogenic, 2 AQP2 Dominant diabetes insipidus, nephrogenic, 2 AVP Diabetes insipidus, neurohypophyseal -
Diamond Blackfan Anaemia (12 genes)
Gene Condition RPS19 Diamond blackfan anaemia 1 RPL5 Diamond blackfan anaemia 6 RPL11 Diamond-Blackfan anaemia 7 RPS26 Diamond-Blackfan anaemia 10 RPL35A Diamond-Blackfan anaemia 5 RPS10 Diamond-Blackfan anaemia 9 RPS17 Diamond-Blackfan anaemia 4 RPS24 Diamond-blackfan anaemia 3 RPL15 Diamond-Blackfan anaemia 12 RPS7 Diamond-Blackfan anaemia 8 RPL26 Diamond-Blackfan anaemia 11 RPS29 Diamond-Blackfan anaemia 13 -
Distal renal tubular acidosis (4 genes)
Gene Condition ATP6V0A4 Distal renal tubular acidosis type 3 with or without sensorineural hearing loss ATP6V1B1 Distal renal tubular acidosis type 2 with progressive sensorineural hearing loss SLC4A1 Distal renal tubular acidosis type 1, autosomal dominant SLC4A1 Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive -
Dopa responsive dystonia (1 gene)
Gene Condition TH Dopa-responsive dystonia due to tyrosine hydroxylase deficiency -
Early onset osteoporosis (1 gene)
Gene Condition PLS3 Bone mineral density QTL18, osteoporosis -
Ectodermal dysplasia and immunodeficiency 2 (1 gene)
Gene Condition NFKBIA Ectodermal dysplasia and immunodeficiency 2 -
Erythropoietic protoporphyria (2 genes)
Gene Condition FECH Protoporphyria, erythropoietic, 1 ALAS2 Protoporphyria, erythropoietic, X-linked -
Factor V deficiency (1 gene)
Gene Condition F5 Factor V deficiency -
Factor VII deficiency (1 gene)
Gene Condition F7 Factor VII deficiency -
Factor X deficiency (1 gene)
Gene Condition F10 Factor X deficiency -
Factor XIII Deficiency (2 genes)
Gene Condition F13A1 Factor XIIIA deficiency F13B Factor XIIIB deficiency -
Familial Chylomicronaemia Syndrome (5 genes)
Gene Condition GPIHBP1 Hyperlipoproteinemia, type 1D APOC2 Hyperlipoproteinemia, type Ib LMF1 Lipase deficiency, combined LPL Lipoprotein lipase deficiency APOA5 apolipoprotein A-V deficiency -
Familial Haemophagocytic lymphohistiocytosis (4 genes)
Gene Condition PRF1 Haemophagocytic lymphohistiocytosis, familial, 2 UNC13D Haemophagocytic lymphohistiocytosis, familial, 3 STX11 Haemophagocytic lymphohistiocytosis, familial, 4 STXBP2 Familial haemophagocytic lymphohistiocytosis-5 -
Familial hyperphosphataemic tumoral calcinosis (2 genes)
Gene Condition GALNT3 Tumoral calcinosis, hyperphosphatemic, familial, 1 FGF23 Tumoral calcinosis, hyperphosphatemic, familial, 2 -
Familial isolated hypoparathyroidism (2 genes)
Gene Condition GCM2 familial isolated hypoparathyroidism 2, Autosomal Recessive PTH familial isolated hypoparathyroidism 1, autosomal recessive -
Familial thrombotic thrombocytopenic purpura (1 gene)
Gene Condition ADAMTS13 Familial thrombotic thrombocytopenic purpura -
Fructose-1,6-bisphosphatase deficiency (1 gene)
Gene Condition FBP1 Fructose-1,6-bisphosphatase deficiency