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Hereditary rhabdoid and nerve system tumors panel

This test is available for the following conditions:

Conditions > Oncogenetics > Rhabdoid tumor predisposition syndrome
Conditions > Oncogenetics > Schwannomatosis

Turnaround time
3 weeks

Method

Sequence analysis of all coding exons and flanking intron-exon boundaries
Exome analysis (WES or WGS data)
CNV analysis of all genes based on NGS

Panel version: DG-5.1.0
Performing laboratory: Radboudumc
Authorized material(s): FFPE, EDTA blood, 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.

€ 788

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Hereditary rhabdoid and nerve system tumors 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

€ 788

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SMARCB1 - Rhabdoid tumor predisposition syndrome type 1

GEN

complete analysis

targeted analysis of a familial mutation

€ 404

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SMARCB1 - Rhabdoid tumor predisposition syndrome type 1

This test is available for the following conditions:

Conditions > Oncogenetics > Rhabdoid tumor predisposition syndrome

This product is also part of the following panels:

Hereditary cancer panel
Hereditary rhabdoid and nerve system tumors panel
Intellectual disability / developmental delay panel with genome wide CNV analysis
Mendelian inherited disorders panel with genome wide CNV analysis
Neurological pain disorders panel¹
Short stature/skeletal dysplasia panel with genome wide CNV analysis
Skin disorders panel¹
Sonic hedgehog medulloblastoma panel

Turnaround time
3 weeks

Method

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

OMIM: 601607
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 404

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