NL
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:
- 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
- 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:
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:
- 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
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:
- 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
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:
- 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
