Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessively inherited multiple malformation syndrome due to an inborn error cholesterol synthesis – insufficiency of enzyme 7-dehydroxycholesterol reductase. The syndrome is characterised by intrauterine and also postnatal growth retardation, moderate to severe mental retardation, malformations in many organ systems (cardiovascular, urogenital, gastrointestinal and central nervous systems). The patients have a characteristic appearance: ptosis, polydactyly, syndactyly of the II and III toes on both feet.
The incidence of SLOS is 1:20,000-70,000. SLOS is associated with mutations in DHCR7 gene.
The SLOS test covers 121 disease associated mutations in DHCR7 gene. The detection level of the test regarding SLOS is 97%. The test is available with diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
Genetic testing should be performed for clinical diagnosis confirmation, carrier testing of at risk family members, genetic counseling and prenatal molecular diagnosis.
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