Services Deletion/duplication diagnostics (MLPA)

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

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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:

• ATL1 - autosomal dominant spastic paraplegia type 3A

This product is also part of the following panels:

• Intellectual disability / developmental delay 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

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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

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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:

• CLCNKB - Bartter syndrome type 3 (classic)

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

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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

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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 / developmental delay 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

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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

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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

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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:

• SLC2A1 - GLUT1 deficiency syndrome

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability / developmental delay 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

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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:

• SLC3A1 - cystinuria type A

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

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