NL
IDH1 - metaphyseal chondromatosis
This test is available for the following conditions:
- Conditions > Immunological, hereditary > Metachondromatosis / Enchondromatosis
- Conditions > Skeletal > Metachondromatosis / Enchondromatosis
This product is also part of the following panels:
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Targeted analysis of one or more variants
OMIM:
147700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
IDH2 - metaphyseal chondromatosis
This test is available for the following conditions:
- Conditions > Immunological, hereditary > Metachondromatosis / Enchondromatosis
- Conditions > Skeletal > Metachondromatosis / Enchondromatosis
This product is also part of the following panels:
- Epilepsy panel
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Mitochondrial disorders panel
- panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Targeted analysis of one or more variants
OMIM:
147650
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
PTPN11 - metachondromatosis
This test is available for the following conditions:
- Conditions > Immunological, hereditary > Metachondromatosis / Enchondromatosis
- Conditions > Skeletal > Metachondromatosis / Enchondromatosis
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:
156250
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
