WES congenital heartdisease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
Turnaround time
4 months
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.This panel contains 58 genes.
Trio analysis is not an option regarding this test!
Panel version:
DG 2.18
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
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
panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
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
ACTC1 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel cardiomyopathy core targeting (45 genen) - HCM, DCM, ARVD/C, RCM ¹
- panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
- WES congenital heartdisease ¹ (99.7% *)
- WES heart disorders¹ (99.7% *)
- WES Mendelian inherited disorders (99.7% *)
* % 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
ACVR2B - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
- WES ciliopathies (95.0% *)
- WES congenital heartdisease ¹ (95.0% *)
- WES heart disorders¹ (95.0% *)
- WES Mendelian inherited disorders (95.0% *)
* % 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
CFC1 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
- WES ciliopathies (74.1% *)
- WES congenital heartdisease ¹ (74.1% *)
- WES heart disorders¹ (74.1% *)
- WES liver disorders (74.1% *)
- WES Mendelian inherited disorders (74.1% *)
* % 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
CRELD1 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- WES congenital heartdisease ¹ (95.0% *)
- WES heart disorders¹ (95.0% *)
- WES Mendelian inherited disorders (95.0% *)
* % 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
GATA4 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
- WES congenital heartdisease ¹ (74.5% *)
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (74.5% *)
- WES heart disorders¹ (74.5% *)
- WES Mendelian inherited disorders (74.5% *)
* % 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
GATA5 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
- WES congenital heartdisease ¹ (93.7% *)
- WES heart disorders¹ (93.7% *)
- WES Mendelian inherited disorders (93.7% *)
* % 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
GATA6 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
- WES congenital heartdisease ¹ (83.0% *)
- WES heart disorders¹ (83.0% *)
- WES Mendelian inherited disorders (83.0% *)
* % 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
GDF1 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
- WES ciliopathies (54.0% *)
- WES comprehensive preconception carrier test ¹
- WES congenital heartdisease ¹ (54.0% *)
- WES heart disorders¹ (54.0% *)
- WES Mendelian inherited disorders (54.0% *)
* % 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
JAG1 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- WES congenital heartdisease ¹ (96.8% *)
- WES heart disorders¹ (96.8% *)
- WES intellectual disability (96.8% *)
- WES liver disorders (96.8% *)
- WES Mendelian inherited disorders (96.8% *)
- WES renal disorders (96.8% *)
- WES vision disorders (96.8% *)
* % 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
MYH6 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel cardiomyopathy core targeting (45 genen) - HCM, DCM, ARVD/C, RCM ¹
- panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
- WES congenital heartdisease ¹ (97.1% *)
- WES heart disorders¹ (97.1% *)
- WES Mendelian inherited disorders (97.1% *)
* % 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
NKX2-5 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
- WES congenital heartdisease ¹ (99.7% *)
- WES heart disorders¹ (99.7% *)
- WES Mendelian inherited disorders (99.7% *)
* % 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
NODAL - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
- WES ciliopathies (100.0% *)
- WES congenital heartdisease ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % 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
NOTCH1 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- WES congenital heartdisease ¹ (97.2% *)
- WES heart disorders¹ (97.2% *)
- WES Mendelian inherited disorders (97.2% *)
- WES short stature/skeletal dysplasia (97.2% *)
- WES skin disorders¹ (97.2% *)
* % 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
TBX20 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- WES congenital heartdisease ¹ (99.7% *)
- WES heart disorders¹ (99.7% *)
- WES Mendelian inherited disorders (99.7% *)
* % 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
ZIC3 - congenital heart disease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
This product is also part of the following panels:
- panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
- WES ciliopathies (99.9% *)
- WES congenital heartdisease ¹ (99.9% *)
- WES heart disorders¹ (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
* % 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
