SNP-array (High Density)

The SNP-array scan simultaneously investigates thousands of regions in the human genome to identify copy number variations (CNVs; Copy Number Variations). CNVs encompass deletions (loss) or duplications (gains) that can affect one or more genes and even large chromosomal segments.

The microarray is used to diagnose patients with suspected microdeletion and microduplication syndromes and is recommended to clarify various clinical conditions of unknown cause, including intellectual disability and congenital malformations. The exam offers strategically distributed high-density arrays to ensure broad coverage of clinically relevant regions of the human genome.

The high-density SNP-array offers the following advantages:

 

– High resolution in the identification of CNVs.

– Increased coverage in dose-sensitive genes.

– Detection of mosaic changes and regions of absence of heterozygosity (AOH).

 

Turnaround time: up to 30 days

Specimen: Saliva and Blood.