CHARGE syndrome

CHARGE syndrome is a condition that affects many areas of the body, and shows great variation in symptoms and severity.  This variation, along with the clinical overlap with other conditions, makes accurate diagnosis a challenge.  Early diagnosis can distinguish CHARGE syndrome from other conditions in order to guide management and treatment for people who are affected.
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Test Code 2380
Turnaround Time (TAT) 2-4 weeks
Number of Genes 1

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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

This test can detect >99.9% of described mutations in CHD7, when present (analytic sensitivity).

Test Description

Our CHARGE syndrome genetic testing includes next generation sequencing (NGS) and deletion/duplication analysis of the CHD7 gene. 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. Additional 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 test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed using a custom pipeline based on read-depth from NGS data and/or utilizing a targeted chromosomal microarray with confirmatory MLPA when applicable.

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