Rapid screening test for smith-lemli-opitz syndrome
AssigneeUniversity of Pittsburgh—Of the Commonwealth System of Higher Education
InventorsDavid M. Hercules, Edwin W. Naylor, Paul A. Zimmerman
Life of this patent
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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.
Claims9
A method of of analyzing cholesterol containing organic samples for Smith-Lemli-Opitz Syndrome using, Time-of-Flight Secondary Ion Mass Spectrometry (TOF-SIMS) without derivation and chemical steps, comprising the steps of:
- a. vaporizing said sample to convert it into a vaporized sample;
- b. ionizing said vaporized sample;
- c. detecting fragment ions of said vaporized, ionized sample;
- d. determining a ratio of said fragment ions for cholesterol/7-dehydrocholesterol in said sample:
- and
- e. determining whether said Smith-Lemli-Opitz Syndrome is present by comparing said ratios of fragment ions for cholesterol/7-dehydrocholesterol in said sample with ratios that define Smith-Lemli-Opitz Syndrome.
Dependencies are inferred from the claim text.