CAH is a group of autosomal recessive metabolic disorders that lead to inadequate synthesis of adrenal steroid hormones (cortisol, aldosterone). Its worldwide incidence is 1:15,000 births. Approximately 95% of CAH caused by mutations of the CYP21A2 gene that lead to 21-Hydroxilase deficiency. CAH symptoms are highly variable and may include virilization of female newborns and life-threatening salt-wasting conditions. Since early treatment with cortisol derivatives is desirable, neonatal genetic testing becomes an important confirmatory tool for early and reliable CAH diagnosis.
Individuals Suitable for Testing
- Newborns with a positive CAH screening test
- Newborns with ambiguous genitalia
- Newborns and infants with adrenal insufficiency and/or unexplained sodium and potassium abnormalities
- Children with evidence of precocious or delayed puberty or unexplained hypertension
- Women with polycystic ovary syndrome, hirsutism, and/or evidence of estrogen deficit
- Individuals with a family history of 21-hydroxylase deficiency, and their partners, who desire carrier screening
- Pregnant women at risk for a fetus affected with CYP21A2 mutations who desire prenatal diagnosis
Specimen Requirements - 2 ml of peripheral blood collected in an EDTA (lavender top) vacutainer tube.
Transport - the specimen should be refrigerated (for 1or 2 days) and shipped at room temperature.
Reporting time 10-15 days
(DNA test for the 11 Mutations of CYP21A2 gene: P30L, I2 splice (I2 G), Del 8 bp E3 (G110del8int), I172N, Cluster E6 (I236N, V237E, M239K), V281L, L307 frameshift (F306+T), Q318X, P453S, R483P).
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Tel.: (+374 10) 544367
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