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:

** % 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: 602635
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410

Products Conditions Intellectual Disability Intellectual disability, autosomal dominant
Gene

ARID1B - autosomal dominant intellectual disability type 12

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

ARID1B - autosomal dominant intellectual disability type 12



€ 550

ARID1B - autosomal dominant intellectual disability type 12

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:

** % 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: 614556
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550
Gene

CTNNB1 - autosomal dominant intellectual disability with microcephaly and spasticity type 19

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

CTNNB1 - autosomal dominant intellectual disability with microcephaly and spasticity type 19



€ 435

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:

** % 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: 116806
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

DEAF1 - autosomal dominant intellectual disability type 24

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

DEAF1 - autosomal dominant intellectual disability type 24



€ 410
Gene

DYNC1H1 - autosomal dominant intellectual disability type 13

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 732

DYNC1H1 - autosomal dominant intellectual disability type 13



€ 732

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:

** % 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: 600112
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 732
Gene

DYRK1A - autosomal dominant intellectual disability type 7

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 426

DYRK1A - autosomal dominant intellectual disability type 7



€ 426

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:

** % 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: 600855
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 426
Gene

FOXP1 - intellectual disability with language impairment and autistic features

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 451

FOXP1 - intellectual disability with language impairment and autistic features



€ 451

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:

** % 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: 605515
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 451
Gene

GATAD2B - autosomal dominant intellectual disability type 18

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

GATAD2B - autosomal dominant intellectual disability type 18



€ 402

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:

** % 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: 614998
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 402
Gene

GRIN1 - autosomal dominant intellectual disability type 8

Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Performing laboratory
Radboudumc
€ 492

GRIN1 - autosomal dominant intellectual disability type 8



€ 492

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:

** % 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 & 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




€ 492
Gene

GRIN2B - autosomal dominant intellectual disability type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

GRIN2B - autosomal dominant intellectual disability type 6



€ 468

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:

** % 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: 138252
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468
Gene

KIF1A - autosomal dominant intellectual disability type 9

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 715

KIF1A - autosomal dominant intellectual disability type 9



€ 715

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:

** % 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: 601255
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 715
Gene

MBD5 - autosomal dominant intellectual disability type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 418

MBD5 - autosomal dominant intellectual disability type 1



€ 418

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:

** % 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: 611472
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 418
Gene

MYT1L - autosomal dominant intellectual disability with obesity

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

MYT1L - autosomal dominant intellectual disability with obesity



€ 501

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:

** % 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: 613084
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 501
Gene

PACS1 - Schuurs-Hoeijmakers syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

PACS1 - Schuurs-Hoeijmakers syndrome



€ 468

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:

** % 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: 607492
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468
Gene

SMARCA4 - autosomal dominant intellectual disability type 16

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 608

SMARCA4 - autosomal dominant intellectual disability type 16



€ 608

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:

** % 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: 603254
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 608
Gene

SYNGAP1 - autosomal dominant intellectual disability type 5

Turnaround time
Complete analysis & Targeted analysis: 12 weeks
Performing laboratory
Radboudumc
€ 435

SYNGAP1 - autosomal dominant intellectual disability type 5



€ 435

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:

** % 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 & 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




€ 435