Diagnosis of Smith-Lemli-Optiz syndrome

Details Diagnosis of Smith-Lemli-Optiz syndrome Diagnosis of Smith-Lemli-Optiz syndrome

2007-03-20

2007-03-20

Cole, Monique T. (Department: 1743)

Chemistry: analytical and immunological testing

Peptide, protein or amino acid

Glycoproteins

C436S173000, C436S177000, C436S811000, C436S071000, C436S139000, C436S817000

Reexamination Certificate

active

10949490

ABSTRACT:
The invention provides a non-invasive assay for the detection of a SLOS affected individual by determining the ratio of at least one of the specific SLOS steroid analytes, dehydro-estriol (8-DHE3) and a dehydro-pregnanetriol (7-DHPT) to their normal steroid counterparts estriol (E3) and pregnanetriol (PT), respectively. 8-DHE3 and 7-DHPT represent metabolites which accumulate in the blood and urine of an individual with SLOS or an individual carrying a SLOS affected fetus. The invention provides for a reliable and reproducible method of screening women for SLOS affected fetuses early on in pregnancy.

REFERENCES:
patent: 6808932 (2004-10-01), Shackleton
patent: WO 01/92893 (2001-12-01), None
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