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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES vision disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neurological pain disorders¹ (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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 - C3-glomerulonephritis (MLPA)
This test is available for the following conditions:
- Conditions > Complement-mediated diseases > C3-Glomerulonephritis
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
