Leri-Weill dyschondrosteosis (LWD; MIM 127300) is an autosomal (pseudoautosomal) dominant and Langer mesomelic dysplasia (LMD; MIM 249700) is an autosomal (pseudoautosomal) recessive disorder caused by mutations in the pseudoautosomal genes, SHOX or SHOXY. Causative mutations include gene deletions, point mutations in the coding sequences or large deletions in the non-coding regulatory elements.read more

Tests Available

By gene: SHOX
Sanger Sequencing
Test Code: 2330
Deletion / Duplication
Test Code: 2331
NGS/Del Dup Comprehensive
Test Code: 2332

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81405 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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