Services Gene panel diagnostics

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

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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

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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

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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

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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

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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

Remarks
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

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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

Remarks
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

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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

Remarks
Panel contains the following genes: CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5. (Variants per gene)

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood

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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

Remarks
Panel contains the following genes: DPYD, UGT1A1, CYP2D6. (Variants per gene)

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood

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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

Remarks
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

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