SNP Array

SNP Array (chromosomal microarray) is useful for identifying certain genetic and genomic variations, and is recommended as a first-tier genetic test. It is often used in the postnatal evaluation of individuals with multiple congenital anomalies, developmental delay/intellectual disability and autism spectrum disorders. As a cost-effective approach for other diagnoses including chronic kidney disease, congenital heart defects, and infantile spasms, our SNP Array is your first line of defense when it comes to identifying these disorders.

Quick Reference
Test Code 5490
Turnaround Time (TAT) 14-21 days
Number of Genes Whole Genome

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Why Is This Important?

The American Academy of Neurology, American Academy of Pediatrics, and American College of Medical Genetics and Genomics recommend chromosomal microarray (CMA) and fragile X DNA analysis as first-tier genetic tests in the evaluation of individuals with developmental delay/intellectual disability and/or an autism spectrum disorder. 

When To Consider Testing

SNP Array should be considered for all individuals with syndromic or non-syndromic conditions that may be caused by genomic imbalance.

Test Description

SNP Array contains >2.6 million copy number probes and 750,000 SNP probes used for genotyping and copy number analysis. These probes cover the entire genome at a median probe spacing of 1.1kb. Our SNP Array also includes probes for all genes, including genes located in the pericentromeric and subtelomeric regions, with dense probe coverage. Deletions of any size covering a known disease locus are reported as COPY NUMBER LOSS and duplications of any size covering a known disease locus are reported as a COPY NUMBER GAIN. Deletions less than ~100kb and duplications less than ~300kb outside known disease loci are not reported. Typically, “Database of Genomic Variants”- documented deletion or duplication CNVs are not reported unless there is cause to believe the CNV may be correlated with the presenting phenotype. Copy number neutral ROH/UPD regions greater than 10.0Mb in size are reported, though this threshold may vary depending on the location of the ROH/UPD region.

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