Gene

IDH1 - metaphyseal chondromatosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 320

IDH1 - metaphyseal chondromatosis



€ 320

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
  • panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
  • Short stature/skeletal dysplasia panel

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




€ 320
Gene

IDH2 - metaphyseal chondromatosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 320

IDH2 - metaphyseal chondromatosis



€ 320

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
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
  • Short stature/skeletal dysplasia panel

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




€ 320
Gene

PTPN11 - metachondromatosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 971

PTPN11 - metachondromatosis



€ 971

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
  • Lymphatic anomalies panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Noonan syndrome / RASopathy panel
  • Short stature/skeletal dysplasia panel
  • 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




€ 971