NL
panel Age-related Macular Degeneration (CFH, CFI, CFB, C3)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Age-related Macular Degeneration (AMD)
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
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 Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Conditions > Cardiovascular > Brugada syndrome
- Conditions > Cardiovascular > Long QT syndrome
- Conditions > Cardiovascular > Short QT syndrome
- Conditions > Cardiovascular > Sick sinus syndrome
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
It includes sequencing of all coding regions of the following 13 genes: CACNA1C, CALM1, CASQ2, HCN4, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, RYR2, SCN5A en TRDN.
Performing laboratory: Maastricht UMC+
Authorized material(s): FFPE
panel atypical HUS (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
- Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
panel atypical HUS (CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, THBD, DGKE, CFP, C2))
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Atypical Hemolytic Uremic Syndrome (aHUS)
- Conditions > Renal / Nephrological > Atypical Hemolytic Uremic Syndrome (aHUS)
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
panel Basal Laminar Drusen (CFH, CFI, CFB, C3)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Basal Laminar Drusen
- Conditions > Vision impairment / blindness > Basal Laminar Drusen
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
panel C3-Glomerulonephritis (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon, CFHR5)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > C3-Glomerulonephritis
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
panel C3-Glomerulonephritis (CFHR1, CFHR2, CFHR3, CFHR4, THBD, DGKE, CFP, C2))
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > C3-Glomerulonephritis
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
panel C3-Glomerulopathy (CFH, CFI, CFB, C3, MCP (CD46), MLPA CFH operon, CFHR5)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > C3-Glomerulopathy
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
