NPHP1 - Senior-Loken syndrome type 1

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Senior-Loken syndrome
  • Conditions > Vision impairment / blindness > Senior-Loken syndrome

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

CEP290 - senior Løker Syndrome type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 781

CEP290 - senior Løker Syndrome type 6



€ 781

CEP290 - senior Løker Syndrome type 6

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Senior-Loken syndrome
  • Conditions > Vision impairment / blindness > Senior-Loken syndrome

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
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • 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: 610142
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 781
Gene

IQCB1 - Senior-Loken syndrome type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 434

IQCB1 - Senior-Loken syndrome type 5



€ 434

IQCB1 - Senior-Loken syndrome type 5

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Senior-Loken syndrome
  • Conditions > Vision impairment / blindness > Senior-Loken syndrome

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: 609237
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 434
Gene

NPHP1 - Senior-Loken syndrome type 1

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

NPHP1 - Senior-Loken syndrome type 1



€ 476