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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

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 2-3 months

Trio/de novo analysis of proband and both parents - TAT: 2-3 months

Single analysis of proband only - TAT: 2-3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days This test is designed for prenatal anomalies, newborn or early childhood (severe/life-threatening) conditions or conditions in need of gene specific treatment options.

€ 750

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Congenital heart disease

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Exome

WES congenital heartdisease ¹

Turnaround time
Regular: 2-3 months / Rapid: 15 working days

Performing laboratory
Maastricht UMC+

€ 750

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WES congenital heartdisease ¹

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 2-3 months

Trio/de novo analysis of proband and both parents - TAT: 2-3 months

Single analysis of proband only - TAT: 2-3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

€ 750

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