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- Wijzig taal in Nederlands ( NL )

- Radboudumc & MaasrichtUMC+

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Familial aortadissection

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Exome

Thoracic Aortic Aneurysm and/or Dissection panel

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

Performing laboratory
Maastricht UMC+

€ 750

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Thoracic Aortic Aneurysm and/or Dissection panel

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

Rapid Single analysis of proband only - TAT: <15 business days

€ 750

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Thoracic Aortic Aneurysm and/or Dissection panel

This test is available for the following conditions:

Conditions > Cardiovascular > Familial aortadissection

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

Method

Exome analysis (WES or WGS data)

Panel version: DG-4.1.0

2025-03-15-DG-4-0-0

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)

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.

Rapid Single analysis of proband only - TAT: <15 business days This test is designed for severe/life-threatening conditions or conditions in need of gene-specific treatment options AND when trio/de novo analysis is not an option or common practice.

€ 750

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Gene

MYLK - familial aortic dissection

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Performing laboratory
Radboudumc

€ 600

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MYLK - familial aortic dissection

GEN

complete analysis

targeted analysis of a familial mutation

€ 600

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MYLK - familial aortic dissection

This test is available for the following conditions:

Conditions > Cardiovascular > Familial aortadissection

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Liver disorders panel
Mendelian inherited disorders panel with genome wide CNV analysis
Thoracic Aortic Aneurysm and/or Dissection panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600922
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 600

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