PTPN11 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES congenital heartdisease * (90.7% **)
  • WES heart disorders* (90.7% **)
  • WES hemostatic/thrombotic disorders (90.7% **)
  • WES hereditary cancer (90.7% **)
  • WES intellectual disability (90.7% **)
  • WES Mendelian inherited disorders (90.7% **)
  • WES metabolic disorders (90.7% **)
  • WES short stature/skeletal dysplasia (90.7% **)
  • WES skin disorders* (90.7% **)

** % 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

Panel

panel Noonan syndrome / RASopathy

Turnaround time
8 weeks
Performing laboratory
Radboudumc
€ 815

panel Noonan syndrome / RASopathy



€ 815

panel Noonan syndrome / RASopathy

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

Turnaround time
8 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
Remarks
Panel includes the following genes: A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SOS1, SHOC2, SPRED1. The recently published Noonan(-like) genes SOS2, LZTR1 and PPP1CB are not included in this panel at this moment, but can be requested separately.

Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA




€ 815
Gene

A2ML1 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 582

A2ML1 - Noonan syndrome



€ 582

A2ML1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is often ordered in combination with:

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES hereditary cancer (99.5% **)

** % 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: 610627
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 582
Gene

CBL - Noonan syndrome

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

CBL - Noonan syndrome



€ 427

CBL - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES hemostatic/thrombotic disorders (97.0% **)
  • WES hereditary cancer (97.0% **)
  • WES intellectual disability (97.0% **)
  • WES Mendelian inherited disorders (97.0% **)
  • WES short stature/skeletal dysplasia (97.0% **)
  • WES skin disorders* (97.0% **)

** % 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

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

KRAS - Noonan syndrome



€ 353

KRAS - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES congenital heartdisease * (97.3% **)
  • WES heart disorders* (97.3% **)
  • WES hemostatic/thrombotic disorders (97.3% **)
  • WES hereditary cancer (97.3% **)
  • WES intellectual disability (97.3% **)
  • WES Mendelian inherited disorders (97.3% **)
  • WES short stature/skeletal dysplasia (97.3% **)
  • WES skin disorders* (97.3% **)

** % 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 & 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

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

LZTR1 - Noonan syndrome



€ 484

LZTR1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • WES heart disorders* (99.7% **)
  • WES hemostatic/thrombotic disorders (99.7% **)
  • WES hereditary cancer (99.7% **)
  • WES intellectual disability (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)
  • WES short stature/skeletal dysplasia (99.7% **)

** % 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: 600574
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 484
Gene

NRAS - Noonan syndrome

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

NRAS - Noonan syndrome



€ 345

NRAS - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES heart disorders* (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 primary immunodeficiencies (100.0% **)
  • WES short stature/skeletal dysplasia (100.0% **)
  • WES skin disorders* (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

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

PPP1CB - Noonan syndrome



€ 385

PPP1CB - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • WES intellectual disability (99.1% **)
  • WES Mendelian inherited disorders (99.1% **)
  • WES short stature/skeletal dysplasia (99.1% **)

** % 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: 600590
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

PTPN11 - Noonan syndrome

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

PTPN11 - Noonan syndrome



€ 435
Gene

RAF1 - Noonan syndrome

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

RAF1 - Noonan syndrome



€ 452

RAF1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES congenital heartdisease * (99.9% **)
  • WES heart disorders* (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 short stature/skeletal dysplasia (99.9% **)
  • WES skin disorders* (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: 611553
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 452
Gene

RIT1 - Noonan syndrome

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

RIT1 - Noonan syndrome



€ 337

RIT1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES heart disorders* (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 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

RRAS - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

RRAS - Noonan syndrome



€ 344

RRAS - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • WES short stature/skeletal dysplasia (99.1% **)

** % 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: 165090
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

SHOC2 - Noonan syndrome

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

SHOC2 - Noonan syndrome



€ 328

SHOC2 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

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

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

SOS1 - Noonan syndrome



€ 509

SOS1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES congenital heartdisease * (97.4% **)
  • WES heart disorders* (97.4% **)
  • WES hemostatic/thrombotic disorders (97.4% **)
  • WES hereditary cancer (97.4% **)
  • WES intellectual disability (97.4% **)
  • WES Mendelian inherited disorders (97.4% **)
  • WES short stature/skeletal dysplasia (97.4% **)
  • WES skin disorders* (97.4% **)

** % 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

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

SOS2 - Noonan syndrome



€ 492

SOS2 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Noonan syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is also part of the following panels:

  • WES hemostatic/thrombotic disorders (97.9% **)
  • WES intellectual disability (97.9% **)
  • WES Mendelian inherited disorders (97.9% **)
  • WES short stature/skeletal dysplasia (97.9% **)

** % 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: 601247
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492