NL
FOXG1 - Rett syndrome, congenital variant
This test is available for the following conditions:
- Conditions > Intellectual Disability > Rett syndrome
- Conditions > Multiple congenital anomalies (MCA) > Rett syndrome
This product is also part of the following panels:
- WES epilepsy (99.9% *)
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
613454
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MECP2 - Rett syndrome
This test is available for the following conditions:
- Conditions > Intellectual Disability > Rett syndrome
- Conditions > Multiple congenital anomalies (MCA) > Rett syndrome
This product is also part of the following panels:
- WES epilepsy (99.7% *)
- WES intellectual disability (99.7% *)
- WES Mendelian inherited disorders (99.7% *)
- WES movement disorders (99.7% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
300005
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MEF2C - intellectual disability, with stereotypic movements, epilepsy, and/or cerebral malformations
This test is available for the following conditions:
- Conditions > Intellectual Disability > Rett syndrome
- Conditions > Multiple congenital anomalies (MCA) > Rett syndrome
This product is also part of the following panels:
- WES epilepsy (100.0% *)
- 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:
613443
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
