NL
Noonan syndrome / RASopathy panel
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
- Exome analysis (WES or WGS data)
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.
Panel version:
DG-4.1.0
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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:
- Congenital heartdisease panel¹
- Heart disorders panel¹
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Noonan syndrome / RASopathy panel
- Primary immunodeficiencies panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
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:
- Comprehensive preconception carrier test panel¹
- Congenital heartdisease panel¹
- Heart disorders panel¹
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Noonan syndrome / RASopathy panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
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:
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Noonan syndrome / RASopathy panel
- Primary immunodeficiencies panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
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:
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Noonan syndrome / RASopathy panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
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:
- Congenital heartdisease panel¹
- Heart disorders panel¹
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Hypertrophic cardiomyopathy panel¹
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Noonan syndrome / RASopathy panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
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:
- Congenital heartdisease panel¹
- Heart disorders panel¹
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Hypertrophic cardiomyopathy panel¹
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Noonan syndrome / RASopathy panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
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:
- Congenital heartdisease panel¹
- Heart disorders panel¹
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Hypertrophic cardiomyopathy panel¹
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Noonan syndrome / RASopathy panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
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:
- Heart disorders panel¹
- Hereditary cancer panel
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Noonan syndrome / RASopathy panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
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:
- Congenital heartdisease panel¹
- Heart disorders panel¹
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Noonan syndrome / RASopathy panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
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:
- Hemostatic/thrombotic disorders panel
- Intellectual disability panel with genome wide CNV analysis
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Noonan syndrome / RASopathy panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
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
