Test Directory

Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)

BWS: Maternal hypomethylation at ICR2 (KCNQ1OT1), hypermethylation at maternal ICR1 (H19), copy number variants, segmental mosaic UPD11pat, and maternally-inherited variants of CDKN1C. SRS: Paternal methylation at ICR1, CNVs simulating maternalisation of ICR1, UPD7mat, other rare imprinting anomalies, and diverse CNVs.

Chromosomal Microarray (CMA) - 750K SNP array - Peripheral Blood

The Affymetrix CytoScan 750K Array assay, performed with genomic DNA extraction, is used to detect small copy number gains and losses across the entire genome. Genomic imbalances are reported when deletions exceed 200 kb or duplications exceed 500 kb, unless the affected region is clearly recognized as a benign copy number polymorphism in multiple independent studies. Regions of homozygosity (ROH) are reported when they are larger than 10 Mb. Deletions smaller than 200 kb and duplications smaller than 500 kb may not be reported unless they involve genomic regions with established clinical significance.

Chromosomal Microarray (CMA) - 750K SNP array - Prenatal

The Affymetrix CytoScan 750K Array assay, performed with genomic DNA extraction, is used to detect small copy number gains and losses across the entire genome. Genomic imbalances are reported when deletions exceed 200 kb or duplications exceed 500 kb, unless the affected region is clearly recognized as a benign copy number polymorphism in multiple independent studies. Regions of homozygosity (ROH) are reported when they are larger than 10 Mb. Deletions smaller than 200 kb and duplications smaller than 500 kb may not be reported unless they involve genomic regions with established clinical significance.

MD-Williams(7q1)1.23

Multi-Locus Imprinting Disorders

This multi-locus imprinting assay detects copy number variations and methylation abnormalities across 14 DMRs on 8 chromosomes, and determines the parental origin of triploid pregnancies. It is indicated for suspected imprinting disorders including Beckwith-Wiedemann, Silver-Russell, Prader-Willi, Angelman, Temple, Kagami-Ogata, transient neonatal diabetes mellitus, and cases of suspected multi-locus imprinting disturbance (MLID) or triploidy.