NL
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited 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:
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited 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:
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited 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:
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (99.5% *)
- WES Mendelian inherited disorders (99.5% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic 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:
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (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:
614426
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
