NL
B9D2 - Meckel syndrome type 10
This test is available for the following conditions:
- Conditions > Intellectual Disability > Meckel syndrome
- Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
- Conditions > Renal / Nephrological > Meckel 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% *)
* % 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:
611951
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CC2D2A - Meckel syndrome type 6
This test is available for the following conditions:
- Conditions > Intellectual Disability > Meckel syndrome
- Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
- Conditions > Renal / Nephrological > Meckel syndrome
This product is also part of the following panels:
- WES ciliopathies (98.2% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (98.2% *)
- WES liver disorders (98.2% *)
- WES Mendelian inherited disorders (98.2% *)
- WES movement disorders (98.2% *)
- WES orofacial clefting (98.2% *)
- WES renal disorders (98.2% *)
- WES short stature/skeletal dysplasia (98.2% *)
- WES vision disorders (98.2% *)
* % 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:
612013
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CEP290 - Meckel syndrome type 4 (Gruber)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Meckel syndrome
- Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
- Conditions > Renal / Nephrological > Meckel 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
MKS1 - Meckel syndrome type 1
This test is available for the following conditions:
- Conditions > Intellectual Disability > Meckel syndrome
- Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
- Conditions > Renal / Nephrological > Meckel 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
TMEM67 - Meckel syndrome type 3
This test is available for the following conditions:
- Conditions > Intellectual Disability > Meckel syndrome
- Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
- Conditions > Renal / Nephrological > Meckel 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
