Gnathodiaphyseal dysplasia

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. GDD is caused by mutations in the ANO5 gene, which codes for anoctamin 5. ANO5 mutations have also been reported in two autosomal recessive muscular dystrophies: muscular dystrophy, limb-girdle, type 2L (LGMD2L; MIM 611307) and Miyoshi muscular dystrophy 3 (MMD3; MIM 613319).



Disease Group(s)

Skeletal disorders




81406 x 1,81479 x 1


Test Code

Additional Test Codes
2156 —Next Generation Sequencing Only, 2157 — Deletion / Duplication Only

Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)

Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl) Fibroblasts: 2 confluent T-25 flasks Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.