NL
ARL6 - Bardet-Biedl syndrome type 3
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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
OMIM:
608845
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BBS1 - Bardet-Biedl syndrome type 1
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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
OMIM:
209901
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BBS10 - Bardet-Biedl syndroom type 10
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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
OMIM:
610148
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BBS2 - Bardet-Biedl syndrome type 2
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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
OMIM:
606151
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BBS4 - Bardet-Biedl syndrome type 4
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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
OMIM:
600374
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BBS5 - Bardet-Biedl syndrome type 5
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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
OMIM:
603650
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BBS7 - Bardet-Biedl syndrome type 12
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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
OMIM:
607590
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BBS9 - Bardet-Biedl syndroom type 9
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl syndrome
This product is also part of the following panels:
- WES ciliopathies (95.8% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (95.8% *)
- WES Mendelian inherited disorders (95.8% *)
- WES renal disorders (95.8% *)
- WES vision disorders (95.8% *)
* % 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:
607968
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CEP290 - Bardet-Biedl syndrome type 14
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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
LZTFL1 - Bardet-Biedl syndrome type 17
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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
OMIM:
20140
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MKKS - Bardet-Biedl syndrome type 6
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl syndrome
This product is also part of the following panels:
- WES ciliopathies (100.0% *)
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- 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
OMIM:
604896
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TRIM32 - Bardet Biedl syndrome type 11
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl 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 muscle disorders (100.0% *)
- WES renal disorders (100.0% *)
- WES skin disorders¹ (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:
602290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TTC8 - Bardet-Biedl syndrome type 8
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl syndrome
This product is also part of the following panels:
- WES ciliopathies (99.9% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES renal disorders (99.9% *)
- WES vision disorders (99.9% *)
* % 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
WDPCP - Bardet-Biedl syndrome type 15
This test is available for the following conditions:
- Conditions > Intellectual Disability > Bardet-Biedl syndrome
- Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
- Conditions > Renal / Nephrological > Bardet-Biedl syndrome
- Conditions > Vision impairment / blindness > Bardet-Biedl syndrome
This product is also part of the following panels:
- WES ciliopathies (97.3% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (97.3% *)
- WES Mendelian inherited disorders (97.3% *)
- WES vision disorders (97.3% *)
* % 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:
613580
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
