Dyggve-Melchior-Clausen disease (DMC; MIM 223800) and Smith-McCort dysplasia (SMC; MIM 607326) are severe and progressive autosomal recessive skeletal dysplasias caused by mutations in the dymeclin gene (DYM). Individuals with these disorders share many features including disproportionate short stature, a short barrel shaped chest with sternal protrusion, microcephaly, and epiphyseal and metaphyseal irregularities.read more

Tests Available

By gene: DYM
Next Generation Sequencing
Test Code: 1304
Deletion / Duplication
Test Code: 1305
NGS/Del Dup Comprehensive
Test Code: 1644

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 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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