Requests for laboratory diagnostics

Before completing a request form, please refer to the request criteria.

Request forms for:

Molecular Genome Diagnostics

Molecular genetic testing
Diagnostic testing of single genes and gene panels consisting of (partly) core genes with high coverage and array diagnostics

RNA analysis
RNA diagnostics to investigate pathogenicity of variants of uncertain significance


Cytogenetic Genome Diagnostics

Postnatal cytogenetic genome diagnostics (Dutch)
Diagnostic testing by aneuploidy screening, array diagnostics, chromosome and/or FISH analysis

Prenatal cytogenetic genome diagnostics (Dutch)
Diagnostic testing by aneuploidy screening, array diagnostics,  chromosome and/or FISH analysis

FISH analysis on buccal cells or urine (Dutch)

Tumour cytogenetic analysis (Dutch)
Diagnostic testing by chromosome and/or FISH analysis and array diagnostics


Hemoglobinopathy

Hemoglobinopathy analysis
Postnatal diagnostics of Hb variants (including HbS etc.), alpha and beta thalassemia, by means of hematological analysis, biochemical Hb separation and DNA analysis

Red blood cell enzyme diagnostics (Dutch)
Red blood cell enzyme activity measurement of up to 9 different enzymes, including G6PD and PK, ALD, HK, GPI etc.