Spondyloepimetaphyseal dysplasia with joint laxity type 1, with or without fractures (SEMDJL1; MIM 271640) and spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2; MIM 603546) are clinically related disorders. Common clinical findings include spondyloepimetaphyseal dysplasia, short stature, ligamentous laxity with joint dislocations, midface hypoplasia, and kyphoscoliosis.read more

Tests Available

By gene: B3GALT6
Sanger Sequencing
Test Code: 2066

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)

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

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