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Smith-Lemli-Opitz Syndrome
DHCR7 (sterol delta-7-reductase)
We offer mutation analysis of the DHCR7 gene in Smith-Lemli-Opitz Syndrome (SLOS), a severe developmental disorder with wide clinical spectrum, including both pre- and post-natal growth retardation, mild to severe mental retardation, multiple congenital malformations, both major and minor, and characteristic facies. Using genomic DNA, the entire coding sequence of the DHCR7 gene is analyzed. If sequencing identifies a mutation on only one allele of the DHCR7 gene, and if clinically indicated, reflex deletion/duplication testing (ExonArrayDx) will be performed at no additional charge to evaluate for a deletion/duplication of one or more exons of this gene. More than 100 mutations in the DHCR7 gene have been described. A single mutation accounts for approximately 1/3 of mutant alleles in identified patients (IVS8-1,G to C). Prenatal diagnosis is available in families where the mutations have been identified.
Information Sheet, including prices and CPT codes
Smith-Lemli-Opitz Syndrome. Prenatal Testing Services.
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Smith-Lemli-Opitz, Opitz, Smith, Lemli, cholesterol, DHCR7, sterol, Rutledge, polydactyly, growth retardation, hypotonia, hypotonic, self injury, SLO, SLOS
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