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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES short stature/skeletal dysplasia (% *)
- WES vision disorders (% *)
* % 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
IDH3B - Retinitis pigmentosa, autosomal recessive
This test is available for the following conditions:
- Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES vision disorders (% *)
* % 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:
604526
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- WES ciliopathies (% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES renal disorders (% *)
- WES vision disorders (% *)
* % 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
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:
- WES ciliopathies (% *)
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (% *)
- WES vision disorders (% *)
* % 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