UPD Array

THIS TEST HAS BEEN DISCONTINUED AND REPLACED WITH THE POSTNATAL HIGH DENSITY SNP ARRAY.

Test name:  UPD Array
Also known as: Uniparental Disomy Microarray

Indications:

• Angelman syndrome (AS)
• Prader-Willi syndrome (PWS)
• Russell-Silver syndrome (RSS)
• Neonatal diabetes mellitus
• Certain cytogenetic cases with abnormal ‘balanced’ karyotypes including Robertsonian translocations, inversions, and isochromosomes
• Abnormal unbalanced karyotypes, particularly those with supernumerary marker chromosomes or mosaic karyotypes, may also benefit from a UPD array
• A child with an autosomal recessive disease, when one parent is not a carrier

Test Information:

• This microarray platform evaluates 140,000 copy number variants approved by ISCA and 75,000 SNP probes with 25kb backbone coverage and 10kb targeted coverage
• For all chromosomes, this microarray detects Uniparental Isodisomy (iUPD), Uniparental Heterodisomy (hUPD) with parental comparison, and copy number changes (deletions/duplications)
• Approximately 500 genes and chromosome regions are analyzed for deletions/duplications and loss of heterozygosity (LOH)
• American College of Medical Genetics (ACMG) recommends microarray as a first tier test for those individuals with intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies
• UPD Array will not detect single gene mutations, balanced chromosome arrangements such as translocations, or low level mosaicism

revised: 3-20-13