Noonan syndrome / RASopathy

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:

• Hemostatic/thrombotic disorders panel
• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Intellectual disability panel
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel
• 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: 613563
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• Primary immunodeficiencies panel
• Short stature/skeletal dysplasia panel
• 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

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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
• Heart disorders panel¹
• Hemostatic/thrombotic disorders panel
• Hereditary cancer panel
• Intellectual disability panel
• Mendelian inherited disorders panel
• Neurological pain disorders panel¹
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel

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

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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:

• Heart disorders panel¹
• Hemostatic/thrombotic disorders panel
• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Intellectual disability panel
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• Primary immunodeficiencies panel
• Short stature/skeletal dysplasia panel
• 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

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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
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel

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

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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
• Mendelian inherited disorders panel
• Metabolic disorders panel
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel
• 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

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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
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel
• 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

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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:

• Heart disorders panel¹
• Hemostatic/thrombotic disorders panel
• Hereditary cancer panel
• Hypertrophic cardiomyopathy panel¹
• Intellectual disability panel
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel

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

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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
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel
• Skin disorders panel¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

Remarks
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

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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
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel
• 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

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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
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel

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

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