NL
ABCA4 - Stargardt disease type 1 (MLPA)
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Stargardt disease
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ATL1 - autosomal dominant spastic paraplegia type 3A (MLPA)
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is often ordered in combination with:
This product is also part of the following panels:
- Intellectual disability panel
- Mendelian inherited disorders panel
- Movement disorders panel
- Neurological pain disorders panel¹
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
606439
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFH operon - atypical hemolytic uremic syndrome (aHUS) (MLPA)
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)
This product is often ordered in combination with:
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFH operon - C3-glomerulopathy (MLPA)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > C3-Glomerulopathy
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFH operon - complement nephropathy (MLPA)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Complement Nephropathy
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFH operon - complement-mediated kidney disease (MLPA)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Complement-mediated kidney disease
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFH operon - dense deposit disease (MLPA)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Dense Deposit Disease (DDD)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFH operon - membranoproliferative glomerulonephritis
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Membranoproliferative Glomerulonephritis (MPGN)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFH operon - S. Pneumoniae HUS (MLPA)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > Membranoproliferative Glomerulonephritis (MPGN)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
