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:
- panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
- WES hereditary cancer (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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
- 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:
- panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
- WES epilepsy (100.0% *)
- WES hereditary cancer (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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
- 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:
- WES congenital heartdisease ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
156250
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
