Exome

WES congenital heartdisease *

Turnaround time
4 months
Performing laboratory
Maastricht UMC+
€ 1500

WES congenital heartdisease *




€ 1500

WES congenital heartdisease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

Turnaround time
4 months

Method

  • Whole exome sequencing (WES)
Remarks
This panel contains 52 genes

Panel version: DG 2.14
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA





€ 1500
Panel

panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) *

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 912

panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) *



€ 912

panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

Turnaround time
8 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA




€ 912
Panel

panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) *

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 1283

panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) *



€ 1283

panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

Turnaround time
8 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA




€ 1283
Gene

ACTC1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 598

ACTC1 - congenital heart disease *



€ 598

ACTC1 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 102540
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 598
Gene

ACVR2B - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 632

ACVR2B - congenital heart disease *



€ 632

ACVR2B - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 602730
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

CFC1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 587

CFC1 - congenital heart disease *



€ 587

CFC1 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 605194
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 587
Gene

CRELD1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 632

CRELD1 - congenital heart disease *



€ 632

CRELD1 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 607170
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

GATA4 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 665

GATA4 - congenital heart disease *



€ 665

GATA4 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 600576
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 665
Gene

GATA5 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 609

GATA5 - congenital heart disease *



€ 609

GATA5 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 611496
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 609
Gene

GATA6 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 632

GATA6 - congenital heart disease *



€ 632

GATA6 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 601656
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

GDF1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 587

GDF1 - congenital heart disease *



€ 587

GDF1 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 602880
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 587
Gene

JAG1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 912

JAG1 - congenital heart disease *



€ 912

JAG1 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 601920
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 912
Gene

MYH6 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 867

MYH6 - congenital heart disease *



€ 867

MYH6 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 160710
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 867
Gene

NKX2-5 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 564

NKX2-5 - congenital heart disease *



€ 564

NKX2-5 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 600584
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 564
Gene

NODAL - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 632

NODAL - congenital heart disease *



€ 632

NODAL - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 601265
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

NOTCH1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 912

NOTCH1 - congenital heart disease *



€ 912

NOTCH1 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 190198
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 912
Gene

TBX20 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 621

TBX20 - congenital heart disease *



€ 621

TBX20 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 606061
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 621
Gene

TBX5 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 721

TBX5 - congenital heart disease *



€ 721

TBX5 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 601620
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 721
Gene

ZIC3 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 598

ZIC3 - congenital heart disease *



€ 598

ZIC3 - congenital heart disease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

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: 300265
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 598