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

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:

  • Congenital heartdisease panel¹
  • Heart disorders panel¹
  • Hemostatic/thrombotic disorders panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel with genome wide CNV analysis
  • Lymphatic anomalies panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Noonan syndrome / RASopathy panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Skin disorders panel¹

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

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:

  • Congenital heartdisease panel¹
  • Heart disorders panel¹
  • Hemostatic/thrombotic disorders panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel with genome wide CNV analysis
  • Lymphatic anomalies panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Noonan syndrome / RASopathy panel
  • Primary immunodeficiencies panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Skin disorders panel¹

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:

  • Hereditary cancer panel
  • Intellectual disability panel with genome wide CNV analysis
  • Lymphatic anomalies panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Noonan syndrome / RASopathy panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Skin disorders panel¹

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:

  • Hereditary cancer panel
  • Intellectual disability panel with genome wide CNV analysis
  • Lymphatic anomalies panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Noonan syndrome / RASopathy panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Skin disorders panel¹

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