Genome-wide CNV analysis through array or WES upon request (please specify in clinical information )
This test is available for the following conditions:
- Conditions > Intellectual Disability > CNV in WES / SNP-based array
- Conditions > Multiple congenital anomalies (MCA) > CNV in WES / SNP-based array
- Conditions > Genome-wide analysis > CNV in WES / SNP-based array
Turnaround time
5 weeks
Method
- Exome-wide CNV analysis in the exome data is a validated, good and efficient alternative that has a comparable diagnostic yield as genome-wide array analysis, but also offers the possibility to successively or simultaneously assess copy number variants (CNVs) and nucleotide variants (SNVs) in one test . The genome-wide practical resolution is on average 100-200 kb.
- Array; Deletion/duplication analysis with the ThermoFisher CytoScan HD array platform containing 2,696,550 copy number markers (of which 743,304 are SNP markers) distributed over the human genome. The genome wide practical resolution averages ~20 kb.
- Deletion/duplication analysis with the ThermoFisher CytoScan XON array platform containing 6,85 million copy number markers (of which 300.000 are SNP markers) with an excellent exon coverage (both coding as non-coding exons). The genome wide practical resolution averages ~100 kb.
Remarks
If Turner syndrome is strongly suspected, you can consider ordering the following test:
Turner syndrome (chromosome analysis)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
NL
