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 (100.0% *)
  • WES heart disorders¹ (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES orofacial clefting (100.0% *)
  • WES short stature/skeletal dysplasia (100.0% *)
  • WES skin disorders¹ (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: 190198
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 591
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WES congenital heartdisease ¹

Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Performing laboratory
Maastricht UMC+
€ 750
View Add

WES congenital heartdisease ¹



€ 750
Add

WES congenital heartdisease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

Turnaround time
Regular: 2-3 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 67 genes.

Panel version: DG 3.4
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA




€ 750
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