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 bones.read more

Tests Available

By gene: ANO5
Sanger Sequencing
$1,050
Test Code: 2156
Deletion / Duplication
$680
Test Code: 2157
Sanger/Del Dup Comprehensive
$1,630
Test Code: 2158

Test Details

Technical Information
Genes: 
ANO5
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
MIM: 
166260
Billing
Price: 
$1,050
CPT Codes: 
81406 x 1
Ordering
SKU:
2156
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)
Shipping: 

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

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