Healthy individual

carrier testing (CNV)

This test is available for the following conditions:

• Conditions > Genome-wide analysis > Healthy individual

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

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carrier testing of (submicroscopic) chromosomal aberration (chromosome analysis or FISH)

This test is available for the following conditions:

• Conditions > Fertility and pregnancy > Healthy individual
• Conditions > Genome-wide analysis > Healthy individual

Turnaround time
8 weeks

Method

• Karyotyping
• FISH

Performing laboratory: Radboudumc
Authorized material(s): Heparin blood

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