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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 obtained from buccal (cheek) swabs or blood (5cc in EDTA), the entire coding sequence of the DHCR7 gene is analyzed, with testing performed in two tiers. The first tier of testing consists of bi-directional sequencing of exons 6-9 of the DHCR7 gene with their intron/exon boundaries. If only one (or no) mutation is identified, Tier 2 analysis is performed, and consists of sequence analysis of exons 3-5 of the 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
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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