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CGH Whole Genome SNP Microarray

Test Code

M CGH*

Associations

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)
 

Methodology

SNP genotyping

* Performed by affiliate laboratory

Turnaround Time

20-23 days

Specimen Requirements

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.

Specimen Stability
Storage & Handling

The specimen should be kept at room temperature and delivered via overnight shipping.
Do not freeze.

Causes for Rejection

Frozen sample

Description

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.