Del/Dup: Xon Microarray - 2-10 genes

Test Information

The CytoScanTM Xon microarray is a powerful application with substantially increased coverage of disease-associated genes. The Applied Biosystems platform includes the following features:

6.85 million probes empirically selected for whole-genome coverage including:
• 6.5 million copy number probes
• 300,000 SNP probes for LOH/AOH analysis as well as duo/trio assessment and sample tracking
• 95% sensitivity for the detection of exon-level CNVs in Level 1 genes
• Total number of genes with coverage: 25,980
• Full coverage: 21,844
• Partial coverage: 4,136
• Exome genes for medical research (including cancer genes): 7,003
• Exon-level CNV detection with an average of 15 probes per call

Turnaround Time

26 days

CPT Code(s)

Varies by genes; contact the lab

Cost

$1,200

Clinical Information

Level 1 - 7003 genes •Genes with the highest level of evidence for clinical relevance - developmental delay, epilepsy, ASD, XLID, metabolic disorders, hereditary cancers, OMIM morbid genes Level 2 - 3813 genes •ClinVar genes not covered in level 1 Level 3 - 5817 genes •Other OMIM genes Level 4 - 9347 genes •Other RefSeq, UCSC, and Ensembl genes

Indications

•This platform may detect small single or multiple exon deletions/duplications that are missed by a whole genome array. •Specific suspected disorder for the levels shown above where sequencing did not identify a mutation, or only identified one mutation for an autosomal recessive disorder. •This array also complements all of the GGC Next Generation Sequencing Panels •Whole genome analysis on the Xon array platform is not currently available.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA is also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

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