SNP Array
Use
Chromosomal microarray analysis using SNP array is recommended for postnatal evaluation of individuals with multiple congenital anomalies, developmental delay, intellectual disability, and autism spectrum disorders. It aids in identifying genomic copy number gains and losses at a higher resolution than traditional karyotype analysis. Additionally, it helps identify copy number neutral regions of homozygosity, which may indicate an increased risk for autosomal recessive disorders, uniparental disomy, or consanguinity.
Special Instructions
SNP Array testing is not performed on prenatal specimens. Family variant testing is offered at no additional cost for blood relatives of patients who undergo genetic testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. This testing must be completed within 90 days of the original report date.
Limitations
SNP array cannot detect all genetic variations and is limited by its inability to detect certain copy number variants classified as benign or not involving coding sequences. There are specific size thresholds for reporting CNVs and ROHs, with an emphasis on clinical relevance based on the indication for testing. Variants less than the specified size may be reported if they are clinically relevant.
Methodology
Microarray (SNP Array)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
EDTA tube