NPHP1 - nephronophthisis type 1

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Nephronophthisis

This product is also part of the following panels:

  • Ciliopathies panel
  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Renal disorders panel
  • Vision disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)

OMIM: 607100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 476

Gene

CEP164 - nephronophthisis type 15

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 558

CEP164 - nephronophthisis type 15



€ 558

CEP164 - nephronophthisis type 15

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Nephronophthisis

This product is also part of the following panels:

  • Ciliopathies panel
  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Renal disorders panel
  • Vision disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 614848
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 558
Gene

NPHP1 - nephronophthisis type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 476

NPHP1 - nephronophthisis type 1



€ 476
Gene

NPHP3 - nephronophthisis type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 534

NPHP3 - nephronophthisis type 3



€ 534

NPHP3 - nephronophthisis type 3

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Nephronophthisis

This product is also part of the following panels:

  • Ciliopathies panel
  • Comprehensive preconception carrier test panel¹
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Renal disorders panel
  • Vision disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 608002
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 534
Gene

NPHP4 - nephronophthisis type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

NPHP4 - nephronophthisis type 4



€ 550

NPHP4 - nephronophthisis type 4

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Nephronophthisis

This product is also part of the following panels:

  • Ciliopathies panel
  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Renal disorders panel
  • Vision disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607215
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550