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:

  • WES ciliopathies (100.0% *)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES renal disorders (100.0% *)
  • WES short stature/skeletal dysplasia (100.0% *)
  • WES vision disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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:

  • WES ciliopathies (100.0% *)
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (100.0% *)
  • WES renal disorders (100.0% *)
  • WES vision disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

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:

  • WES ciliopathies (100.0% *)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES renal disorders (100.0% *)
  • WES vision disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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