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adrenogenital syndrome (AGS), 21-hydroxylase deficiency

Name adrenogenital syndrome (AGS), 21-hydroxylase deficiency
Specimen requirements 10 ml of EDTA blood
Prenatal: amniotic fluid cells
CSV material and blood from the mother
Clinical utility suspicions of cortisol deficiency, or androgen hyperproduction
Methodology PCR (polymerase chain reaction)
Reference ranges mutation screening in the entire CYP21 gene, including deletions/duplications
Remarks Testing currently takes place in a contract laboratory