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:

  • panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
  • WES hereditary cancer (77.3% **)
  • WES short stature/skeletal dysplasia (77.3% **)

** % 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 mutations

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:

  • panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
  • WES epilepsy (99.6% **)
  • WES hereditary cancer (99.6% **)
  • WES Mendelian inherited disorders (99.6% **)
  • WES metabolic disorders (99.6% **)
  • WES short stature/skeletal dysplasia (99.6% **)

** % 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 mutations

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:

  • panel Noonan syndrome / RASopathy
  • WES congenital heartdisease * (90.7% **)
  • WES heart disorders* (90.7% **)
  • WES hemostatic/thrombotic disorders (90.7% **)
  • WES hereditary cancer (90.7% **)
  • WES intellectual disability (90.7% **)
  • WES Mendelian inherited disorders (90.7% **)
  • WES metabolic disorders (90.7% **)
  • WES short stature/skeletal dysplasia (90.7% **)
  • WES skin disorders* (90.7% **)

** % 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




€ 971