SHOX - langer mesomelic dysplasia

This test is available for the following conditions:

  • Conditions > Endocrine > Langer mesomelic dysplasia
  • Conditions > Skeletal > Langer mesomelic dysplasia

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: 249700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361

Gene

SHOX - Leri-Weill dyschondrosteosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

SHOX - Leri-Weill dyschondrosteosis



€ 361

SHOX - Leri-Weill dyschondrosteosis

This test is available for the following conditions:

  • Conditions > Endocrine > Langer mesomelic dysplasia
  • Conditions > Skeletal > Langer mesomelic dysplasia

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: 127300
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361
Gene

SHOX - idiopathic (familial) short stature

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

SHOX - idiopathic (familial) short stature



€ 361

SHOX - idiopathic (familial) short stature

This test is available for the following conditions:

  • Conditions > Endocrine > Langer mesomelic dysplasia
  • Conditions > Skeletal > Langer mesomelic dysplasia

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)
Remarks
Short stature / skeletal dysplasia is also often ordered via:

WES short stature/skeletal dysplasia

OMIM: 300582
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361
Gene

SHOX - langer mesomelic dysplasia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

SHOX - langer mesomelic dysplasia



€ 361