Rapid screening test for smith-lemli-opitz syndrome

Details Rapid screening test for smith-lemli-opitz syndrome Rapid screening test for smith-lemli-opitz syndrome

1995-06-02

1997-05-13

Alexander, Lyle A.

Chemistry: analytical and immunological testing

Lipids, triglycerides, cholesterol, or lipoproteins

436173, 436177, 436811, B01D 5944

Patent

active

056292104

ABSTRACT:
A rapid screening test was used to distinguish between blood of normal infants and that of individuals having the Smith-Lemli-Opitz Syndrome (SLO). Blood was spotted on filter paper and analyzed with no extractions or separations. The method comprises the steps of vaporizing a cholesterol containing organic sample, ionizing the vaporized sample, detecting fragment ions of said vaporized ionized sample, and determining the intensity ratio of said fragment ions for cholesterol/7-dehydrocholesterol in the sample. The method includes performing the analysis by time-of-flight secondary ion mass spectrometry without derivation or chemical steps.

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Axelson, "Occurrence of isomeric dehydrocholesterols in human plasma", J. Lipid Res., vol. 32, pp. 1441-1448, 1991.
Chace et al., "Rapid Diagnosis of Phenylketonuria by Quantitative Analysis for Phenylalanine and Tyrosine in Neonatal Blood Spots by Tandem Mass Spectrometry", Clin. Chem., vol. 39, pp. 66-71. 1993.
Tint et al., "Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome", N. Eng. J. Med., vol. 330, pp. 107-113, 1994.
Opitz et al., "Cholesterol Metabolism in the RSH/Smith-Lemli-Opitz Syndrome: Summary of an NICHD Conference", Amer. J. Med. Genet., vol. 50, pp. 326-338, 1994.
Opitz et al., "Smith-Lemli-Opitz (RSH) Syndrome Bibliography: 1964-1993", Amer. J. Med. Genet., vol. 50, pp. 339-343, 1994.

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