Whole Genome SNP Microarray
||The lab uses the Affymetrix Cytoscan HD platform. 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...
3-5ml peripheral blood collected in an EDTA (lavender top) tube for DNA isolation and 3-5mls peripheral blood collected in a sodium heparin (green top) tube for metaphase chromosome isolation. The lavendar top, EDTA tube is required. The green top, sodium heparin tube, is requested but not required. You may send the EDTA without the sodium heparin if necessary; however, additional sample in a green top may be requested at a later date.
If parental studies are recommended, an EDTA (lavender top) and sodium heparin (green top) tube are needed from the parents.
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. Do not freeze.|
|Turnaround time||26 days
In some cases, parental samples may be requested to clarify results
|Cost||Whole Genome SNP Microarray: $1950
There may be additional charges for cell culture, FISH studies, and parental studies.
For a prenatal sample or tissue sample, there will be an additional charge for culture:
Skin or other tissue: $342
Amniotic fluid or CVS: $312
Cell pellet from green top (if sent): $240
If chromosomes not previously done, recommend high resolution 'short study': $620
FISH to determine if duplication is in tandem (must be requested by the physician): $536
Parental qPCR studies for pathogenic CNVs and CNVs greater than 200 kb will be charged:
1 parent submitted: $200
2 parents submitted simultaneously: $300
Other family members after parent studies: $150
The Cytogenetics Lab provides high quality analysis for the detection of both constitutional chromosomal aberrations as well as abnormalities related to hematological malignancies