Variant Names: 
Osteogenesis imperfecta with unusual skeletal lesions

Gnathodiaphyseal dysplasia (GDD; MIM 166260) is an autosomal dominant generalized skeletal syndrome. It is also known as osteogenesis imperfecta with unusual skeletal lesions. GDD is characterized by cementoosseous lesions of the jawbones that can cause facial deformity, jaw infections, osteopenia, bone fractures, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long more

Tests Available

By gene: ANO5
Next Generation Sequencing
Test Code: 2156
Deletion / Duplication
Test Code: 2157
NGS/Del Dup Comprehensive
Test Code: 2158

Test Details

Technical Information
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
CPT Codes: 
81406 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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