WES congenital heartdisease ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Congenital heart disease
Turnaround time
Regular: 3 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.This panel contains 65 genes.
Panel version:
DG 3.2
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 (32 genen) - HCM, DCM, ARVD/C, RCM ¹
- panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
- WES congenital heartdisease ¹ (98.9% *)
- WES heart disorders¹ (98.9% *)
- WES Mendelian inherited disorders (98.9% *)
* % 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:
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 (95.1% *)
- WES congenital heartdisease ¹ (95.1% *)
- WES heart disorders¹ (95.1% *)
- WES Mendelian inherited disorders (95.1% *)
* % 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:
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 (78.0% *)
- WES congenital heartdisease ¹ (78.0% *)
- WES heart disorders¹ (78.0% *)
- WES liver disorders (78.0% *)
- WES Mendelian inherited disorders (78.0% *)
* % 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:
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 (94.0% *)
- WES heart disorders¹ (94.0% *)
- WES Mendelian inherited disorders (94.0% *)
* % 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 (78.5% *)
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (78.5% *)
- WES heart disorders¹ (78.5% *)
- WES Mendelian inherited disorders (78.5% *)
* % 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 (95.5% *)
- WES heart disorders¹ (95.5% *)
- WES Mendelian inherited disorders (95.5% *)
* % 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:
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 (84.5% *)
- WES heart disorders¹ (84.5% *)
- WES Mendelian inherited disorders (84.5% *)
* % 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:
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 (59.0% *)
- WES comprehensive preconception carrier test ¹
- WES congenital heartdisease ¹ (59.0% *)
- WES heart disorders¹ (59.0% *)
- WES Mendelian inherited disorders (59.0% *)
* % 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 (96.7% *)
- WES heart disorders¹ (96.7% *)
- WES intellectual disability (96.7% *)
- WES liver disorders (96.7% *)
- WES Mendelian inherited disorders (96.7% *)
- WES neuropathies (96.7% *)
- WES renal disorders (96.7% *)
- WES vision disorders (96.7% *)
* % 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
- 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 (32 genen) - HCM, DCM, ARVD/C, RCM ¹
- panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
- WES congenital heartdisease ¹ (96.1% *)
- WES heart disorders¹ (96.1% *)
- WES Mendelian inherited disorders (96.1% *)
* % 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 (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:
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 (97.9% *)
- WES heart disorders¹ (97.9% *)
- WES Mendelian inherited disorders (97.9% *)
- WES orofacial clefting (97.9% *)
- WES short stature/skeletal dysplasia (97.9% *)
- WES skin disorders¹ (97.9% *)
* % 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:
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 (99.8% *)
- WES heart disorders¹ (99.8% *)
- WES Mendelian inherited disorders (99.8% *)
* % 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
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% *)
- WES orofacial clefting (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
