NL
panel Alport syndrome (COL4A3, COL4A4, COL4A5) ¹
This test is available for the following conditions:
- Conditions > Hearing impairment > Alport syndrome
- Conditions > Renal / Nephrological > Alport syndrome
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) ¹
This test is available for the following conditions:
- Conditions > Skin > Ichthyosis
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) ¹
This test is available for the following conditions:
- Conditions > Skeletal > Craniosynostosis
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
panel Dowling-Degos (POFUT1, POGLUT1) ¹
This test is available for the following conditions:
- Conditions > Skin > Dowling-Degos
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
panel erythrokeratodermia variabilis (GJB3, GJB4)¹
This test is available for the following conditions:
- Conditions > Skin > Erythrokeratodermia variabilis
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
panel Farmacogenetics (complete) ¹
This test is available for the following conditions:
- Conditions > Pharmacogenetics > Panels
Turnaround time
Targeted analysis: max. 10 business days
Method
- Targeted analysis of multiple genes and variants
Panel contains the following genes: CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, DPYD, NUDT15, SLCO1B1, TPMT, UGT1A1, VKORC1. (Variants per gene)
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood
panel Farmacogenetics (CYP450 general and cardiology) ¹
This test is available for the following conditions:
- Conditions > Pharmacogenetics > Cytochrome p450 genes (pharmacogenetics)
- Conditions > Pharmacogenetics > Panels
Turnaround time
Targeted analysis: max. 10 business days
Method
- Targeted analysis of multiple genes and variants
Panel contains the following genes: CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, SLCO1B1, VKORC1. (Variants per gene)
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood
panel Farmacogenetics (CYP450 psychiatry) ¹
This test is available for the following conditions:
- Conditions > Pharmacogenetics > Cytochrome p450 genes (pharmacogenetics)
- Conditions > Pharmacogenetics > Panels
Turnaround time
Targeted analysis: max. 10 business days
Method
- Targeted analysis of multiple genes and variants
Panel contains the following genes: CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5. (Variants per gene)
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood
panel Farmacogenetics (oncology) ¹
This test is available for the following conditions:
- Conditions > Pharmacogenetics > Panels
Turnaround time
Maximum 7 working days
Method
- Targeted analysis of multiple genes and variants
Panel contains the following genes: DPYD, UGT1A1, CYP2D6. (Variants per gene)
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood
