Gene

AP1S2 - X-linked syndromic intellectual disability type Fried

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 587

AP1S2 - X-linked syndromic intellectual disability type Fried



€ 587

AP1S2 - X-linked syndromic intellectual disability type Fried

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300629
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 587
Gene

ARHGEF6 - X-linked intellectual disability

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 789

ARHGEF6 - X-linked intellectual disability



€ 789

ARHGEF6 - X-linked intellectual disability

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300267
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 789
Gene

ATRX - X-linked alpha-thalassemia and intellectual disability

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1036

ATRX - X-linked alpha-thalassemia and intellectual disability



€ 1036

ATRX - X-linked alpha-thalassemia and intellectual disability

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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
Remarks
Send preferably EDTA blood. Otherwise only hotspot analysis. Duplications are rare and can be detected with high resolution SNP array. This test can be requested seperately.

OMIM: 301040
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1036
Gene

CASK - X-linked intellectual disability and microcephaly with pontine and cerebellar hypoplasia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 811

CASK - X-linked intellectual disability and microcephaly with pontine and cerebellar hypoplasia



€ 811

CASK - X-linked intellectual disability and microcephaly with pontine and cerebellar hypoplasia

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300172
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 811
Gene

CUL4B - X-linked syndromic intellectual disability (Cabezas syndrome)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 766

CUL4B - X-linked syndromic intellectual disability (Cabezas syndrome)



€ 766

CUL4B - X-linked syndromic intellectual disability (Cabezas syndrome)

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300354
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 766
Gene

DLG3 - X-linked intellectual disability type 90

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 777

DLG3 - X-linked intellectual disability type 90



€ 777

DLG3 - X-linked intellectual disability type 90

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300189
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 777
Gene

FTSJ1 - X-linked intellectual disability type 9

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 542

FTSJ1 - X-linked intellectual disability type 9



€ 542

FTSJ1 - X-linked intellectual disability type 9

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300499
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 542
Gene

IL1RAPL1 - X-linked intellectual disability type 21

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 653

IL1RAPL1 - X-linked intellectual disability type 21



€ 653

IL1RAPL1 - X-linked intellectual disability type 21

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300206
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 653
Gene

KDM5C - X-linked syndromic intellectual disability type Claes-Jensen

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 845

KDM5C - X-linked syndromic intellectual disability type Claes-Jensen



€ 845

KDM5C - X-linked syndromic intellectual disability type Claes-Jensen

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 314690
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 845
Gene

OPHN1 - X-linked intellectual disability with cerebellair hypoplasia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 789

OPHN1 - X-linked intellectual disability with cerebellair hypoplasia



€ 789

OPHN1 - X-linked intellectual disability with cerebellair hypoplasia

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300486
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 789
Gene

PHF6 - Borjeson-Forssman-Lehmann syndrome

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

PHF6 - Borjeson-Forssman-Lehmann syndrome



€ 643

PHF6 - Borjeson-Forssman-Lehmann syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 301900
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 643
Gene

PHF8 - X-linked intellectual disability type Siderius

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 542

PHF8 - X-linked intellectual disability type Siderius



€ 542

PHF8 - X-linked intellectual disability type Siderius

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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 selected exons and flanking intron-exon boundaries
Remarks
Only exon 8 is analysed.

OMIM: 300263
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 542
Gene

PQBP1 - X-linked intellectual disability type Renpenning

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 598

PQBP1 - X-linked intellectual disability type Renpenning



€ 598

PQBP1 - X-linked intellectual disability type Renpenning

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

This product is often ordered in combination with:

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
Remarks
"Since duplications are rare, MLPA analysis for this gene will not be performed routinely. When suspicion remains high, MLPA analysis can be requested separately."

OMIM: 309500
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 598
Gene

PTCHD1 - X-linked intellectual disability or autism

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 620

PTCHD1 - X-linked intellectual disability or autism



€ 620

PTCHD1 - X-linked intellectual disability or autism

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300830
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 620
Gene

SLC9A6 - X-linked syndromic intellectual disability type Cristianson

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 710

SLC9A6 - X-linked syndromic intellectual disability type Cristianson



€ 710

SLC9A6 - X-linked syndromic intellectual disability type Cristianson

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300243
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 710
Gene

SOX3 - X-linked intellectual disability with growth hormone deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 587

SOX3 - X-linked intellectual disability with growth hormone deficiency



€ 587

SOX3 - X-linked intellectual disability with growth hormone deficiency

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300123
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 587
Gene

UPF3B - X-linked syndromic intellectual disability

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 654

UPF3B - X-linked syndromic intellectual disability



€ 654

UPF3B - X-linked syndromic intellectual disability

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300676
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 654
Gene

USP9X - X-linked syndromic intellectual disability type 99

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1036

USP9X - X-linked syndromic intellectual disability type 99



€ 1036

USP9X - X-linked syndromic intellectual disability type 99

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300919
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1036
Gene

X-inactivation

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 756

X-inactivation



€ 756

X-inactivation

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • PCR followed by fragment (length) analysis
  • Methylation analysis
Remarks
DNA of the proband is required

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




€ 756
Gene

ZDHHC9 - X-linked syndromal intellectual disability

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 632

ZDHHC9 - X-linked syndromal intellectual disability



€ 632

ZDHHC9 - X-linked syndromal intellectual disability

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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: 300799
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
MLPA

PQBP1 - X-linked intellectual disability type Renpenning (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 609

PQBP1 - X-linked intellectual disability type Renpenning (MLPA)



€ 609

PQBP1 - X-linked intellectual disability type Renpenning (MLPA)

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, X-linked
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

This product is often ordered in combination with:

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

  • Deletion/duplication analysis (MLPA)

OMIM: 300463
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 609