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 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

Exome

WES Noonan syndrome / RASopathy

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 990

WES Noonan syndrome / RASopathy




€ 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 hereditary neurological pain disorders¹ (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

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
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