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 (% *)
- 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:
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 (% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES renal 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:
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 (% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES orofacial clefting (% *)
- 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:
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 (% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES orofacial clefting (% *)
- WES renal 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:
611254
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 (% *)
- 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
- 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 (% *)
- WES craniofacial anomalies (% *)
- WES epilepsy (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES orofacial clefting (% *)
- WES renal disorders (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
- 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:
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 (% *)
- WES comprehensive preconception carrier test ¹
- 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:
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 (% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (% *)
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES movement disorders (% *)
- WES renal 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:
609884
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane