WES congenital heartdisease *

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

Turnaround time
Regular: 4 months / Rapid: 15 working days

Method

  • Whole exome sequencing (WES)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.This panel contains 52 genes.

Panel version: DG 2.15
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA





€ 990

Products Conditions Cardiovascular Congenital heart disease
Exome

WES congenital heartdisease *

Turnaround time
Regular: 4 months / Rapid: 15 working days
Performing laboratory
Maastricht UMC+
€ 990

WES congenital heartdisease *




€ 990
Panel

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

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 593

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



€ 593

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




€ 593
Panel

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

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 770

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



€ 770

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




€ 770
Gene

ACTC1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 361

ACTC1 - congenital heart disease *



€ 361

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




€ 361
Gene

ACVR2B - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 386

ACVR2B - congenital heart disease *



€ 386

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




€ 386
Gene

CFC1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 353

CFC1 - congenital heart disease *



€ 353

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




€ 353
Gene

CRELD1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 386

CRELD1 - congenital heart disease *



€ 386

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




€ 386
Gene

GATA4 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 410

GATA4 - congenital heart disease *



€ 410

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




€ 410
Gene

GATA5 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 369

GATA5 - congenital heart disease *



€ 369

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




€ 369
Gene

GATA6 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 386

GATA6 - congenital heart disease *



€ 386

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




€ 386
Gene

GDF1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 353

GDF1 - congenital heart disease *



€ 353

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




€ 353
Gene

JAG1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 591

JAG1 - congenital heart disease *



€ 591

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




€ 591
Gene

MYH6 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 558

MYH6 - congenital heart disease *



€ 558

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




€ 558
Gene

NKX2-5 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 336

NKX2-5 - congenital heart disease *



€ 336

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




€ 336
Gene

NODAL - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 386

NODAL - congenital heart disease *



€ 386

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




€ 386
Gene

NOTCH1 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 591

NOTCH1 - congenital heart disease *



€ 591

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




€ 591
Gene

TBX20 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 378

TBX20 - congenital heart disease *



€ 378

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




€ 378
Gene

TBX5 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 451

TBX5 - congenital heart disease *



€ 451

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




€ 451
Gene

ZIC3 - congenital heart disease *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 361

ZIC3 - congenital heart disease *



€ 361

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




€ 361