Cornelia de Lange syndrome

Cornelia de Lange syndrome affects multiple parts of the body, resulting in characteristic facial features, limb defects, growth retardation, and intellectual disability.  Genetic testing can help to confirm a diagnosis and aid in genetic counseling for a family.
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Test Code 7040
Turnaround Time (TAT) 14-21 days
Number of Genes 5

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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

Mutation Detection Rate

CdLSNext can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

Our CdLSNext panel includes next generation sequencing (NGS) and deletion/duplication analysis of the NIPBLSMC1AHDAC8RAD21, and SMC3 genes.  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS.

Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed using read-depth from NGS data. Any copy number changes detected by NGS are confirmed by targeted chromosomal microarray or MLPA.

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