Genetic Testing Report
Test(s) Requested: DHCR7 Smith-Lemli-Opitz Syndrome (SLOS)
Relevant Information: This individual’s child with history of congenital heart defects, right-sided diaphragmatic hernia, cryptorchidism (failure of testes to drop), kidney failure, and wide nasal bridge was found via whole exome sequencing to be heterozygous for a pathogenic variant in DHCR7 gene that was inherited from the other parent.
Result: NEGATIVE
No pathogenic variant was identified in the coding exons 3-9 of the DHCR7 gene in the submitted specimen of this individual.
Interpretation: No pathogenic variant known to be associated with Smith-Lemli-Opitz syndrome was identified by this analysis of the DHCR7 gene. In one large study of individuals with clinically and biochemically characterized SLOS, pathogenic variants in the DHCR7 gene were identified on 96% of disease alleles (Witsch-Baumgartner,2000.)
Sequence analysis would not detect large deletions or duplications, if present. In one study of 12 patients with a confirmed diagnosis of SLOS in whom only a single variant was identified after sequence analysis, exon level deletion/duplication testing of DHCR7 identified a large deletion in 2 individuals (2/24 or 8.3% of alleles) (Lanthaler et al. 2015.) If desired, testing to evaluate for a deletion/duplication of one or more exons of the DHCR7 gene (ExonArrayDx) is available using the sample at GeneDx.
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