Metachondromatosis / Enchondromatosis

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

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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

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