NL
PTPN11 - LEOPARD syndrome
This test is available for the following conditions:
- Conditions > Intellectual Disability > LEOPARD syndrome
- Conditions > Multiple congenital anomalies (MCA) > LEOPARD syndrome
- Conditions > Hearing impairment > LEOPARD syndrome
- Conditions > Skeletal > LEOPARD syndrome
This product is also part of the following panels:
- Congenital heartdisease panel¹
- Heart disorders panel¹
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Hypertrophic cardiomyopathy panel¹
- 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
- Metabolic disorders panel
- 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:
151100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RAF1 - LEOPARD syndrome
This test is available for the following conditions:
- Conditions > Intellectual Disability > LEOPARD syndrome
- Conditions > Multiple congenital anomalies (MCA) > LEOPARD syndrome
- Conditions > Hearing impairment > LEOPARD syndrome
- Conditions > Skeletal > LEOPARD syndrome
This product is also part of the following panels:
- Congenital heartdisease panel¹
- Heart disorders panel¹
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Hypertrophic cardiomyopathy panel¹
- 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:
611554
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
