This thorough analysis of regions throughout the genome may identify the causes of numerous genetic conditions and cases of unexplained intellectual disabilities or other anomalies. This SNP array also allows for the analysis of loss of heterozygosity which can be useful in identifying uniparental disomy (UPD) as well as autozygosity (identity by descent).
This array features over 1.8 million markers of genetic variation. There are over 946,000 nonpolymorphic probes for copy number detection including 202K probes for targeting 5677 known CNV regions as well as 744K probes tiled evenly along the genome. In addition, there are more than 906,600 SNPs comprise of an unbiased selection of 482,000 SNPs and specific selection of 424,000 SNPs.
Areas of homozygosity (AOH) or loss of heterozygosity (LOH) will be reported
When the total autosomal homozyogosity is >10%
When an isolated LOH/AOH of at least 10 Mb is found on imprinted chromosome or when an isolated LOH/AOH of at least 15 Mb is found on a non-imprinted chromosome.
The following findings WILL NOT be reported for prenatal specimens:
CNVs associated with adult onset disorders
This group of specific CNVs:
Deletions associated with infertility involving the AZF loci in males
Deletions and duplications of the BP1-BP2 region at 15q11.2
Duplications of the NPHP1 locus at 2q13
Focal duplications involving the STS gene in males and females
Duplications involving the PAR1/SHOX region on Xp/Yp
Duplications of the recurrent 16p13.11 region
Deletions/duplications of 17p12/PMP22 associated with HNLPP and Charcot-Marie-Tooth, respectively