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Mass Spectrometry/Biochemical Genetics

Prenatal Diagnosis

Prenatal testing for conditions causing low pregnancy estriol such as Smith-Lemli-Opitz syndrome and steroid sulfatase deficiency. Low estriol is occasionally found during routine triple-marker-screening which is carried out at the fifteenth gestational week on half of pregnancies in the United States. Our diagnosis is based on non-invasive GC/MS analysis of urine or serum steroids.

Disorders of steroid synthesis and metabolism
We employ a procedure based on urine analysis which allows the diagnosis of virtually all single gene disorders affecting steroid synthesis and metabolism. In particular we are noted for the diagnosis of disorders causing hypertension. The following disorders can be differentiated:
  • Congenital Adrenal Hyperplasia(CAH) due to 21-hydroxylase, 11ß-hydroxylase, 3ß-hydroxysteroid dehydrogenase and 17-hydroxylase deficiencies.
  • 5a-Reductase deficiency
  • 17ß-hydroxysteroid dehydrogenase(17ßHSD) deficiency
  • Apparent mineralocorticoid excess syndrome(AME, 11ßHSD 2 deficiency)
  • Glucocorticoid remediable hyperaldosteronism (GRA)
  • Apparent cortisone reductase deficiency(ACRD,11ßHSD 1 deficiency)
  • 7-Deydrosterolreductase deficiency (Smith-Lemli-Opitz syndrome)
  • Recessive X-linked Ichthyosis (RXLI, steroid sulfatase deficiency)

For information on mass spectrometry/biochemical genetics testing, call Dr. Cedric Shackleton at 510-450-7660 or Josep Marcos del Aguila at 510-450-7661. We are not a licenced laboratory and all testing must be considered to be on a research basis.

Revised: Monday, November 3, 2014 8:49 PM

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