MLPA

ABCA4 - Stargardt disease type 1 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 450

ABCA4 - Stargardt disease type 1 (MLPA)



€ 450

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




€ 450
MLPA

ATL1 - autosomal dominant spastic paraplegia type 3A (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

ATL1 - autosomal dominant spastic paraplegia type 3A (MLPA)



€ 400

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




€ 400
MLPA

CFH operon - complement-mediated kidney disease (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

CFH operon - complement-mediated kidney disease (MLPA)



€ 725

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




€ 725
MLPA

CLCNKB - Bartter syndrome type 3 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

CLCNKB - Bartter syndrome type 3 (MLPA)



€ 400

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




€ 400
MLPA

panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)

Turnaround time
8 weeks
Performing laboratory
Radboudumc
€ 400

panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)



€ 400

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:

Turnaround time
8 weeks

Method

  • Deletion/duplication analysis (MLPA)

Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 400
MLPA

PQBP1 - X-linked intellectual disability type Renpenning (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

PQBP1 - X-linked intellectual disability type Renpenning (MLPA)



€ 400

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




€ 400
MLPA

SLC12A3 - Gitelman syndrome (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

SLC12A3 - Gitelman syndrome (MLPA)



€ 400

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




€ 400
MLPA

SLC26A4 - Pendred syndrome (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

SLC26A4 - Pendred syndrome (MLPA)



€ 400

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




€ 400
MLPA

SLC2A1 - GLUT1 deficiency syndrome type 2 / dystonia type 18 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

SLC2A1 - GLUT1 deficiency syndrome type 2 / dystonia type 18 (MLPA)



€ 400

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




€ 400
MLPA

SLC3A1 - cystinuria type A (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

SLC3A1 - cystinuria type A (MLPA)



€ 400

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




€ 400