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
  • Lymphatic anomalies 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




€ 385

Exome

Noonan syndrome / RASopathy panel

Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Performing laboratory
Radboudumc
€ 750

Noonan syndrome / RASopathy panel




€ 750

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)
Remarks
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-3.9.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)





€ 750
Gene

CBL - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 427

CBL - Noonan syndrome (only familial mutation testing)



€ 427

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
  • Lymphatic anomalies 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




€ 427
Gene

KRAS - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 353

KRAS - Noonan syndrome (only familial mutation testing)



€ 353

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
  • Lymphatic anomalies 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




€ 353
Gene

LZTR1 - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 484

LZTR1 - Noonan syndrome (only familial mutation testing)



€ 484

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
  • Lymphatic anomalies 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




€ 484
Gene

NRAS - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 345

NRAS - Noonan syndrome (only familial mutation testing)



€ 345

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
  • Lymphatic anomalies 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




€ 345
Gene

PPP1CB - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

PPP1CB - Noonan syndrome (only familial mutation testing)



€ 385
Gene

PTPN11 - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

PTPN11 - Noonan syndrome (only familial mutation testing)



€ 435

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
  • Lymphatic anomalies 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




€ 435
Gene

RAF1 - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 452

RAF1 - Noonan syndrome (only familial mutation testing)



€ 452

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
  • Lymphatic anomalies 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




€ 452
Gene

RIT1 - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 337

RIT1 - Noonan syndrome (only familial mutation testing)



€ 337

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
  • Lymphatic anomalies 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




€ 337
Gene

SHOC2 - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 328

SHOC2 - Noonan syndrome (only familial mutation testing)



€ 328

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
  • Lymphatic anomalies 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




€ 328
Gene

SOS1 - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509

SOS1 - Noonan syndrome (only familial mutation testing)



€ 509

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
  • Lymphatic anomalies 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




€ 509
Gene

SOS2 - Noonan syndrome (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

SOS2 - Noonan syndrome (only familial mutation testing)



€ 492

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
  • Lymphatic anomalies 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




€ 492