Langer mesomelic dysplasia

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

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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

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