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




€ 484

Exome

WES Noonan syndrome / RASopathy

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

WES Noonan syndrome / RASopathy




€ 750

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)
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. This panel contains 25 genes.

Panel version: DG 3.6
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA





€ 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:

  • 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




€ 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:

  • 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




€ 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
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:

  • 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




€ 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

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




€ 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:

  • 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




€ 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:

  • 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




€ 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:

  • 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




€ 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:

  • 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
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:

  • 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




€ 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:

  • 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




€ 492