NL
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
OMIM:
610148
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BBS12 - 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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
OMIM:
610683
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Muscle disorders panel
- Renal disorders panel
- Skin disorders panel¹
- 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:
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay 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
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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders 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:
613580
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
