BRAF - cardio-facio-cutaneous syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cardio-Facio-Cutaneous syndrome (CFC)
  • Conditions > Multiple congenital anomalies (MCA) > Cardio-Facio-Cutaneous syndrome (CFC)

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES congenital heartdisease ¹ (80.2% **)
  • WES heart disorders¹ (80.2% **)
  • WES hemostatic/thrombotic disorders (80.2% **)
  • WES hereditary cancer (80.2% **)
  • WES intellectual disability (80.2% **)
  • WES Mendelian inherited disorders (80.2% **)
  • WES short stature/skeletal dysplasia (80.2% **)
  • WES skin disorders¹ (80.2% **)

** % 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: 164757
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 460

Gene

BRAF - cardio-facio-cutaneous syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 460

BRAF - cardio-facio-cutaneous syndrome



€ 460
Gene

KRAS - cardio-facio-cutaneous syndrome

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

KRAS - cardio-facio-cutaneous syndrome



€ 353

KRAS - cardio-facio-cutaneous syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cardio-Facio-Cutaneous syndrome (CFC)
  • Conditions > Multiple congenital anomalies (MCA) > Cardio-Facio-Cutaneous syndrome (CFC)

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES congenital heartdisease ¹ (97.3% **)
  • WES heart disorders¹ (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 disorders¹ (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: 115150
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 353
Gene

MAP2K1 - cardio-facio-cutaneous syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

MAP2K1 - cardio-facio-cutaneous syndrome



€ 402

MAP2K1 - cardio-facio-cutaneous syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cardio-Facio-Cutaneous syndrome (CFC)
  • Conditions > Multiple congenital anomalies (MCA) > Cardio-Facio-Cutaneous syndrome (CFC)

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES hereditary cancer (96.3% **)
  • WES intellectual disability (96.3% **)
  • WES Mendelian inherited disorders (96.3% **)
  • WES short stature/skeletal dysplasia (96.3% **)
  • WES skin disorders¹ (96.3% **)

** % 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: 115150
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 402
Gene

MAP2K2 - cardio-facio-cutaneous syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

MAP2K2 - cardio-facio-cutaneous syndrome



€ 402

MAP2K2 - cardio-facio-cutaneous syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cardio-Facio-Cutaneous syndrome (CFC)
  • Conditions > Multiple congenital anomalies (MCA) > Cardio-Facio-Cutaneous syndrome (CFC)

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES hereditary cancer (94.1% **)
  • WES intellectual disability (94.1% **)
  • WES Mendelian inherited disorders (94.1% **)
  • WES short stature/skeletal dysplasia (94.1% **)
  • WES skin disorders¹ (94.1% **)

** % 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: 115150
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 402