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Primary immunodeficiencies panel

This test is available for the following conditions:

Conditions > Complement-mediated diseases > Primary immunodeficiencies
Conditions > Immunological, hereditary > Primary immunodeficiencies (WES)
Conditions > Immunological, hereditary > Primary immunodeficiencies

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

Method

Exome analysis (WES or WGS data)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 487 genes.

Panel version: DG-4.3.0

2025-07-01-DG-4-2-0
2025-04-05-DG-4-1-0
2025-01-21-DG-4-0-0
2024-05-21-DG-3-9-0
2024-02-25-DG-3-8-1
2023-08-31-DG-3-7-0
2023-04-05-DG-3-6-0
2022-12-05-DG-3-5-0
2022-04-19-DG-3-4-0
2022-01-13-DG-3-3-0
2021-09-16-DG-3-2-0
2021-03-23-DG-3-1-0
2020-12-02-DG-3-0-0
2020-04-20-DG-2-1-8
2019-12-06-DG-2-1-7
2019-06-07-DG-2-1-6
2019-01-31-DG-2-1-5
2018-10-08-DG-2-1-4

Performing laboratory: Radboudumc
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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Primary immunodeficiencies 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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TLR7 - X-linked immunodeficiency associated with COVID-19

GEN

complete analysis

targeted analysis of a familial mutation

€ 327

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TLR7 - X-linked immunodeficiency associated with COVID-19

This test is available for the following conditions:

Conditions > Immunological, hereditary > Primary immunodeficiencies

This product is also part of the following panels:

Mendelian inherited disorders panel with genome wide CNV analysis
Primary immunodeficiencies panel

Turnaround time
4 weeks

Method

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

Remarks
Voor extra information over diagnostiek naar het TLR7 gen, klik hier.

OMIM: 300365
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

GEN

complete analysis

targeted analysis of a familial mutation

€ 327

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