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 with genome wide CNV analysis
- 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 with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neurological pain disorders panel¹
- Polyneuropathies 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 - 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
CLCNKB - Bartter syndrome type 3 (MLPA)
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Bartter syndrome
This product is often ordered in combination with:
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Renal disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
602023
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)
This test is available for the following conditions:
- Conditions > Hearing impairment > Waardenburg syndrome
This product is often ordered in combination with:
- MITF - Waardenburg syndrome type 2A
- PAX3 - Waardenburg syndrome type 1/3
- SOX10 - Waardenburg syndrome, type 2E
Turnaround time
8 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PQBP1 - X-linked intellectual disability type Renpenning (MLPA)
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
300463
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC12A3 - Gitelman syndrome (MLPA)
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Gitelman syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Renal disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
600968
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC26A4 - Pendred syndrome (MLPA)
This test is available for the following conditions:
- Conditions > Hearing impairment > Pendred syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
605646
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC2A1 - GLUT1 deficiency syndrome type 2 / dystonia type 18 (MLPA)
This test is available for the following conditions:
- Conditions > Neurological > GLUT1 deficiency syndrome
This product is often ordered in combination with:
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Movement disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
138140
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC3A1 - cystinuria type A (MLPA)
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Cysteinuria/Cystinuria
This product is often ordered in combination with:
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Renal disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
104614
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane