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, NF1, NRAS, PPP1CB, PTPN11, RAC1, RAF1, RIT1, RRAS, RRAS2, RREB1, SHOC2, SOS1, SOS2, SPRED1, SPRED2 and replaces the previously used AmpliSeq gene panel.
The NF1 gene has been included in the Rasopathy gene panel recently. However, not in all positive cases a NF1 variant can be detected in WES data (due to several pseudogenes of NF1). Therefore, when there is a strong suspicion of NF1 variant, please request the NF1 gene apart.
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 25 genes.
Panel version:
DG 3.6
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 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 & 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
LZTR1 - 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 comprehensive preconception carrier test ¹
- 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 neurological pain disorders¹ (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:
600574
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
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
