Unexplained intellectual disability, developmental delay, autism, dysmorphic features or other phenotypic anomalies; suspicion of chromosomal abnormality or microduplication / deletion syndrome with a normal karyotype
Determining the size of duplication/deletion involved in an unbalanced translocation
Assessing possible cryptic duplications/deletions in an individual with an apparently balanced karyotype, but with phenotypic abnormalities
Individuals with suspected UPD
Individuals with possible long contiguous stretches of homozygosity to determine the degree of relatedness by identity- by- descent (autozygosity)
* Performed by affiliate laboratory
5mL (min.3.0mL) whole blood in EDTA (lavender top) tube for DNA isolation
AND 5mL (min. 3mL) whole blood collected in sodium heparin (green top) tube for metaphase chromosome isolation.
The specimen should be kept at room temperature and delivered via overnight shipping.
Do not freeze.
Analysis of regions throughout the genome may identify causes of numerous genetic conditions and cases of unexplained intellectual disabilities or other anomalies.
This array features 2.67 million markers made up of 750,000 SNPs and 1.9 million non-polymorphic probes. Backbone coverage of 1 marker per 1,737 bases and Gene coverage is 1 marker per 880 bases for more than 36,000 RefSeq genes.
Enriched Gene Coverage includes 12,000 OMIM genes, 1 marker/659 bases; X chromosome genes, 1 marker/486 bases; Complete ISCA constitutional coverage,1 marker/384 bases; Cancer genes, 1 marker/553 bases.
Enhanced ability to measure mosaicism
Characterization of LOH and UPD
SNP genotyping allows allele specific copy number and parent of origin analysis.