In suspection of a genetic mutation after physical examination, checking personal and family medical history and laboratory tests (measuring levels of certain substances or biochemical test of the blood and urine) can be used genetic testing as certain diagnosis. Genetic testing identifies changes in chromosomes, genes, or proteins. However, some conditions do not have a specific genetic test; either the genetic cause of the condition is unknown or a test has not yet been developed. In these cases, a combination of the approaches listed above may be used to make a diagnosis.
Janus kinase 3 deficiency
WNT4 deficiency
GATA2 deficiency
NGLY1 deficiency
ZC4H2 deficiency
Caspase-8 deficiency
LRBA deficiency
ZAP70 deficiency