NL
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
- panel Lynch syndrome (MLH1, PMS2, MSH2, MSH6)
- 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
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
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
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
