NL
WES Noonan syndrome / RASopathy
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This WES panel consists of the following genes: BRAF, CBL, CDC42, HRAS, KRAS, LZTR1, MAPK1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS, RRAS2, RREB1, SHOC2, SOS1, SOS2, SPRED1, SPRED2 and replaces the previously used AmpliSeq gene panel.
The NF1 gene is not included in the Rasopathy gene panel. This gene can be requested apart. On request we can also analyze this gene in the WES data. In some cases we are able to detect a pathogenic variant in NF1, but we are unable to exclude a pathogenic variant in the NF1 in the WES data.
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 24 genes.
Panel version:
DG 3.5
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
CBL - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (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:
613563
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KRAS - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES congenital heartdisease ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES primary immunodeficiencies (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 & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
609942
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NRAS - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES primary immunodeficiencies (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:
613224
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PPP1CB - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES short stature/skeletal dysplasia (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:
600590
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PTPN11 - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES congenital heartdisease ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES Noonan syndrome / RASopathy (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:
163950
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RAF1 - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES congenital heartdisease ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (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:
611553
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RIT1 - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES short stature/skeletal dysplasia (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:
609591
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SHOC2 - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES heart disorders¹ (100.0% *)
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (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 selected exons and flanking intron-exon boundaries
In the SHOC2 gene only 1 mutation has been described. Therefore only this exon is analyzed.
OMIM:
607721
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SOS1 - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES congenital heartdisease ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (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:
610733
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SOS2 - Noonan syndrome (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Intellectual Disability > Noonan syndrome / RASopathy
- Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome / RASopathy
This product is also part of the following panels:
- WES hemostatic/thrombotic disorders (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES short stature/skeletal dysplasia (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:
601247
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
