NL
AHI1 - Joubert syndrome type 3
This test is available for the following conditions:
- Conditions > Intellectual Disability > Joubert syndrome
- Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability 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:
608894
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CEP290 - Joubert syndrome type 5
This test is available for the following conditions:
- Conditions > Intellectual Disability > Joubert syndrome
- Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability 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
KIF7 - Joubert syndrome type 12
This test is available for the following conditions:
- Conditions > Intellectual Disability > Joubert syndrome
- Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting 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:
611254
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MKS1 - Joubert syndrome 28
This test is available for the following conditions:
- Conditions > Intellectual Disability > Joubert syndrome
- Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
- Conditions > Hearing impairment > Joubert syndrome
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting 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:
609883
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NPHP1 - Joubert syndrome type 4
This test is available for the following conditions:
- Conditions > Intellectual Disability > Joubert syndrome
- Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability 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
- Deletion/duplication analysis (MLPA)
OMIM:
607100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
OFD1 - Joubert syndrome type 10
This test is available for the following conditions:
- Conditions > Intellectual Disability > Joubert syndrome
- Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
- Conditions > Hearing impairment > Joubert syndrome
This product is also part of the following panels:
- Ciliopathies panel
- Craniofacial anomalies panel with genome wide CNV analysis
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- Renal disorders panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- 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:
300804
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TCTN1 - Joubert syndrome type 13
This test is available for the following conditions:
- Conditions > Intellectual Disability > Joubert syndrome
- Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- 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:
609863
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TMEM67 - Joubert syndrome type 6
This test is available for the following conditions:
- Conditions > Intellectual Disability > Joubert syndrome
- Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- 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:
609884
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
