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CRADD - autosomal recessive intellectual disability type 34
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
603454
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PRSS12 - autosomal recessive intellectual disability type 1
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
606709
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC6A17 - autosomal recessive intellectual disability type 48
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
616269
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SOBP - intellectual disability with anterior maxillary protrusion and strabismus
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613671
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TRAPPC9 - autosomal recessive intellectual disability type 13
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic 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:
613192
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TTI2 - autosomal recessive intellectual disability type 39
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
614426
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
