Gene

FOXG1 - Rett syndrome, congenital variant

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 969

FOXG1 - Rett syndrome, congenital variant



€ 969

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:

** % 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




€ 969
Gene

MECP2 - Rett syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 969

MECP2 - Rett syndrome



€ 969

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:

** % 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




€ 969
Gene

MEF2C - intellectual disability, with stereotypic movements, epilepsy, and/or cerebral malformations

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 643

MEF2C - intellectual disability, with stereotypic movements, epilepsy, and/or cerebral malformations



€ 643

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:

** % 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




€ 643