Gene

ABCA4 - retinitis pigmentosa type 19

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 706

ABCA4 - retinitis pigmentosa type 19



€ 706

ABCA4 - retinitis pigmentosa type 19

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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
  • Analysis of one or more specific deletions
Remarks
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as separate test ."

OMIM: 601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 706
Gene

C2ORF71 - autosomal recessive retinitis pigmentosa type 54

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

C2ORF71 - autosomal recessive retinitis pigmentosa type 54



€ 385

C2ORF71 - autosomal recessive retinitis pigmentosa type 54

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

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

Method

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

OMIM: 613425
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

CDHR1 - autosomal recessive retinitis pigmentosa type 65

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 451

CDHR1 - autosomal recessive retinitis pigmentosa type 65



€ 451

CDHR1 - autosomal recessive retinitis pigmentosa type 65

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 609502
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 451
Gene

CERKL - autosomal recessive retinitis pigmentosa type 26

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

CERKL - autosomal recessive retinitis pigmentosa type 26



€ 410

CERKL - autosomal recessive retinitis pigmentosa type 26

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 608381
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410
Gene

CLN3 - autosomal recessive retinitis pigmentosa

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 426

CLN3 - autosomal recessive retinitis pigmentosa



€ 426

CLN3 - autosomal recessive retinitis pigmentosa

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 204200
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 426
Gene

CNGA1 - autosomal recessive retinitis pigmentosa type 41

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

CNGA1 - autosomal recessive retinitis pigmentosa type 41



€ 435

CNGA1 - autosomal recessive retinitis pigmentosa type 41

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 123825
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

CNGB1 - autosomal recessive retinitis pigmentosa type 45

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

CNGB1 - autosomal recessive retinitis pigmentosa type 45



€ 558

CNGB1 - autosomal recessive retinitis pigmentosa type 45

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 609502
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 558
Gene

CRB1 - autosomal recessive retinitis pigmentosa type 12

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

CRB1 - autosomal recessive retinitis pigmentosa type 12



€ 443

CRB1 - autosomal recessive retinitis pigmentosa type 12

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 604210
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443
Gene

EYS - autosomal recessive retinitis pigmentosa type 25

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 715

EYS - autosomal recessive retinitis pigmentosa type 25



€ 715

EYS - autosomal recessive retinitis pigmentosa type 25

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 612424
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 715
Gene

FAM161A - autosomal recessive retinitis pigmentosa type 28

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

FAM161A - autosomal recessive retinitis pigmentosa type 28



€ 369

FAM161A - autosomal recessive retinitis pigmentosa type 28

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 613596
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

HGSNAT - autosomal recessive retinitis pigmentosa type 73

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 459

HGSNAT - autosomal recessive retinitis pigmentosa type 73



€ 459

HGSNAT - autosomal recessive retinitis pigmentosa type 73

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 610453
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 459
Gene

IMPG2 - autosomal recessive retinitis pigmentosa type 56

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 484

IMPG2 - autosomal recessive retinitis pigmentosa type 56



€ 484

IMPG2 - autosomal recessive retinitis pigmentosa type 56

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 607056
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 484
Gene

MAK - autosomal recessive retinitis pigmentosa type 62

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

MAK - autosomal recessive retinitis pigmentosa type 62



€ 377

MAK - autosomal recessive retinitis pigmentosa type 62

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 154235
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377
Gene

MERTK - autosomal recessive retinitis pigmentosa type 38

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

MERTK - autosomal recessive retinitis pigmentosa type 38



€ 468

MERTK - autosomal recessive retinitis pigmentosa type 38

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 604705
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468
Gene

NR2E3 - autosomal recessive retinitis pigmentosa type 37

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

NR2E3 - autosomal recessive retinitis pigmentosa type 37



€ 369

NR2E3 - autosomal recessive retinitis pigmentosa type 37

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 604485
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

PDE6A - autosomal recessive retinitis pigmentosa type 43

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

PDE6A - autosomal recessive retinitis pigmentosa type 43



€ 492

PDE6A - autosomal recessive retinitis pigmentosa type 43

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 180071
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492
Gene

PDE6B - autosomal recessive retinitis pigmentosa type 40

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 451

PDE6B - autosomal recessive retinitis pigmentosa type 40



€ 451

PDE6B - autosomal recessive retinitis pigmentosa type 40

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 180072
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 451
Gene

PROM1 - autosomal recessive retinitis pigmentosa type 41

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 525

PROM1 - autosomal recessive retinitis pigmentosa type 41



€ 525

PROM1 - autosomal recessive retinitis pigmentosa type 41

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 604365
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 525
Gene

RBP3 - autosomal recessive retinitis pigmentosa type 66

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

RBP3 - autosomal recessive retinitis pigmentosa type 66



€ 385

RBP3 - autosomal recessive retinitis pigmentosa type 66

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 180290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

RDH12 - autosomal recessive retinitis pigmentosa type 53

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

RDH12 - autosomal recessive retinitis pigmentosa type 53



€ 385

RDH12 - autosomal recessive retinitis pigmentosa type 53

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 608830
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

RGR - autosomal recessive retinitis pigmentosa type 44

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

RGR - autosomal recessive retinitis pigmentosa type 44



€ 369

RGR - autosomal recessive retinitis pigmentosa type 44

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 600342
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

RHO - autosomal recessive retinitis pigmentosa

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

RHO - autosomal recessive retinitis pigmentosa



€ 344

RHO - autosomal recessive retinitis pigmentosa

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 13316
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

RP1 - autosomal recessive retinitis pigmentosa

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 451

RP1 - autosomal recessive retinitis pigmentosa



€ 451

RP1 - autosomal recessive retinitis pigmentosa

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 603937
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 451
Gene

RPE65 - autosomal recessive retinitis pigmentosa type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

RPE65 - autosomal recessive retinitis pigmentosa type 2



€ 402

RPE65 - autosomal recessive retinitis pigmentosa type 2

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 180069
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 402
Gene

SEMA4A - retinitis pigmentosa type 35

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

SEMA4A - retinitis pigmentosa type 35



€ 435

SEMA4A - retinitis pigmentosa type 35

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 607292
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

TTC8 - autosomal recessive retinitis pigmentosa type 51

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

TTC8 - autosomal recessive retinitis pigmentosa type 51



€ 443

TTC8 - autosomal recessive retinitis pigmentosa type 51

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 608132
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443
Gene

TULP1 - autosomal recessive retinitis pigmentosa type 14

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

TULP1 - autosomal recessive retinitis pigmentosa type 14



€ 435

TULP1 - autosomal recessive retinitis pigmentosa type 14

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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: 602280
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

USH2A - autosomal recessive retinitis pigmentosa

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 880

USH2A - autosomal recessive retinitis pigmentosa



€ 880

USH2A - autosomal recessive retinitis pigmentosa

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

** % 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
  • Analysis of one or more specific deletions

OMIM: 608400
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 880