TOP (Termination of pregnancy) (TOP)

This test is available for the following conditions:

• Conditions > Fertility and pregnancy > Live/still birth, with malformation of the fetus

Turnaround time
6 weeks

Method

• QF-PCR
• 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.

Performing laboratory: Radboudumc
Authorized material(s): Skin biopsy, umbilical cord biopsy

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