NL
intellectual disability (array)
This test is available for the following conditions:
- Conditions > Intellectual Disability > SNP array
- Conditions > Multiple congenital anomalies (MCA) > SNP array
- Conditions > Genome-wide analysis > SNP array
Turnaround time
5 weeks
Method
- 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.
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
intellectual disability and multipele congenital anomalies (array)
This test is available for the following conditions:
- Conditions > Intellectual Disability > SNP array
- Conditions > Multiple congenital anomalies (MCA) > SNP array
- Conditions > Genome-wide analysis > SNP array
Turnaround time
5 weeks
Method
- 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.
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
multiple congenital abnormalities (array)
This test is available for the following conditions:
- Conditions > Intellectual Disability > SNP array
- Conditions > Multiple congenital anomalies (MCA) > SNP array
- Conditions > Genome-wide analysis > SNP array
Turnaround time
5 weeks
Method
- 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.
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
