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:
- 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:
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:
- 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
KIAA0586 - Joubert syndrome type 23
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:
- WES ciliopathies (95.5% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (95.5% *)
- WES Mendelian inherited disorders (95.5% *)
- WES orofacial clefting (95.5% *)
- WES short stature/skeletal dysplasia (95.5% *)
- WES vision disorders (95.5% *)
* % 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:
610178
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:
- WES ciliopathies (99.9% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES orofacial clefting (99.9% *)
- WES renal disorders (99.9% *)
- WES short stature/skeletal dysplasia (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:
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:
- WES ciliopathies (100.0% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (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:
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:
- 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
- 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:
- WES ciliopathies (100.0% *)
- WES craniofacial anomalies (100.0% *)
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES renal disorders (100.0% *)
- WES short stature/skeletal dysplasia (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:
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:
- WES ciliopathies (94.0% *)
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (94.0% *)
- WES renal disorders (94.0% *)
- WES vision disorders (94.0% *)
* % 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:
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:
- WES ciliopathies (97.5% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (97.5% *)
- WES liver disorders (97.5% *)
- WES Mendelian inherited disorders (97.5% *)
- WES movement disorders (97.5% *)
- WES renal disorders (97.5% *)
- WES short stature/skeletal dysplasia (97.5% *)
- WES vision disorders (97.5% *)
* % 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:
609884
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
