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CTNNB1 - autosomal dominant intellectual disability with microcephaly and spasticity type 19
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders 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:
116806
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
DEAF1 - autosomal dominant intellectual disability type 24
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
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:
602635
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
DYNC1H1 - autosomal dominant intellectual disability type 13
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Muscle disorders panel
- Neurological pain disorders panel¹
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600112
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
DYRK1A - autosomal dominant intellectual disability type 7
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- Congenital heartdisease panel¹
- Epilepsy panel
- Heart disorders 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:
600855
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
FOXP1 - intellectual disability with language impairment and autistic features
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- 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:
605515
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GATAD2B - autosomal dominant intellectual disability type 18
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- 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:
614998
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GRIN1 - autosomal dominant intellectual disability type 8
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
138249
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GRIN2B - autosomal dominant intellectual disability type 6
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement 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:
138252
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KIF1A - autosomal dominant intellectual disability type 9
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
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
- Mitochondrial disorders panel
- Movement disorders panel
- Neurological pain disorders panel¹
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601255
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MBD5 - autosomal dominant intellectual disability type 1
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- Epilepsy panel
- 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:
611472
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MYT1L - autosomal dominant intellectual disability with obesity
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- 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:
613084
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PACS1 - Schuurs-Hoeijmakers syndrome
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- Epilepsy panel
- 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:
607492
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SMARCA4 - autosomal dominant intellectual disability type 16
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- Congenital heartdisease panel¹
- Heart disorders panel¹
- Hereditary cancer panel
- 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:
603254
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SYNGAP1 - autosomal dominant intellectual disability type 5
This test is available for the following conditions:
- Conditions > Intellectual Disability > Intellectual disability, autosomal dominant
- Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
612621
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
