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 (93.7% *)
  • WES heart disorders¹ (93.7% *)
  • WES hemostatic/thrombotic disorders (93.7% *)
  • WES hereditary cancer (93.7% *)
  • WES intellectual disability (93.7% *)
  • WES Mendelian inherited disorders (93.7% *)
  • WES metabolic disorders (93.7% *)
  • WES Noonan syndrome / RASopathy (93.7% *)
  • WES short stature/skeletal dysplasia (93.7% *)
  • WES skin disorders¹ (93.7% *)

* % 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

Exome

WES Noonan syndrome / RASopathy

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 990

WES Noonan syndrome / RASopathy




€ 990

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
4 weeks

Method

  • Whole exome sequencing (WES)
Remarks
This WES panel consists of the following genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PPP1CB, PTPN11, RAF1, RIT1, SOS1, SOS2, SHOC2, SPRED1, and replaces the previously used AmpliSeq gene panel. This test contains Sanger sequencing of the coding exons of the PTPN11 gene with no or low coverage in the WES data.
 
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains [16] genes.
 

Panel version: DG 2.18
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA





€ 990
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 (97.1% *)
  • WES hereditary cancer (97.1% *)
  • WES intellectual disability (97.1% *)
  • WES Mendelian inherited disorders (97.1% *)
  • WES Noonan syndrome / RASopathy (97.1% *)
  • WES short stature/skeletal dysplasia (97.1% *)
  • WES skin disorders¹ (97.1% *)

* % 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 (96.9% *)
  • WES heart disorders¹ (96.9% *)
  • WES hemostatic/thrombotic disorders (96.9% *)
  • WES hereditary cancer (96.9% *)
  • WES intellectual disability (96.9% *)
  • WES Mendelian inherited disorders (96.9% *)
  • WES Noonan syndrome / RASopathy (96.9% *)
  • WES short stature/skeletal dysplasia (96.9% *)
  • WES skin disorders¹ (96.9% *)

* % 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

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 (99.9% *)
  • WES hemostatic/thrombotic disorders (99.9% *)
  • WES hereditary cancer (99.9% *)
  • WES intellectual disability (99.9% *)
  • WES Mendelian inherited disorders (99.9% *)
  • WES Noonan syndrome / RASopathy (99.9% *)
  • WES short stature/skeletal dysplasia (99.9% *)

* % 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
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 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 (99.3% *)
  • WES Mendelian inherited disorders (99.3% *)
  • WES Noonan syndrome / RASopathy (99.3% *)
  • WES short stature/skeletal dysplasia (99.3% *)

* % 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
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 (99.4% *)
  • WES hereditary cancer (99.4% *)
  • WES intellectual disability (99.4% *)
  • WES Mendelian inherited disorders (99.4% *)
  • WES Noonan syndrome / RASopathy (99.4% *)
  • WES short stature/skeletal dysplasia (99.4% *)
  • WES skin disorders¹ (99.4% *)

* % 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 (98.4% *)
  • WES heart disorders¹ (98.4% *)
  • WES hemostatic/thrombotic disorders (98.4% *)
  • WES hereditary cancer (98.4% *)
  • WES intellectual disability (98.4% *)
  • WES Mendelian inherited disorders (98.4% *)
  • WES Noonan syndrome / RASopathy (98.4% *)
  • WES short stature/skeletal dysplasia (98.4% *)
  • WES skin disorders¹ (98.4% *)

* % 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 (99.2% *)
  • WES intellectual disability (99.2% *)
  • WES Mendelian inherited disorders (99.2% *)
  • WES Noonan syndrome / RASopathy (99.2% *)
  • WES short stature/skeletal dysplasia (99.2% *)

* % 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