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
panel gastro-intestinal stroma tumor (KIT, PDGFRA)
This test is available for the following conditions:
- Conditions > Oncogenetics > Predictive testing (cancer hotspot panel)
Turnaround time
3 weeks
Method
- Targeted analysis of one or more variants
Targeted analysis of one or more mutations in KIT (NM_000222.2: codons 412-513, 550-591, 628-713, 799-828) and PDGFRA (NM_006206.4: codons 552-596, 632-667, 814-848).Remark:The above mentioned genes are part of the ‘Radboud Cancer Hotspot panel’. Additional clinically relevant mutations in hotspot regions in AKT1, BRAF, CTNNB1, CXCR4, EGFR, ERBB2, EZH2, GNA11, GNAQ, GNAS, H3F3A, H3F3B, HRAS, IDH1, IDH2, JAK2, KRAS, MPL, MYD88, NRAS, PIK3CA, SF3B1 and instability of the MSI markers BAT25, BAT26, NR21, NR24 and NR27 are also reported.
Performing laboratory: Radboudumc
Authorized material(s): FFPE