Amelogenesis imperfecta, type IV (AI4; MIM 104510) and trichodentoosseus syndrome (TDO; MIM 190320) are related disorders characterized by enamel hypoplasia and taurodontism. Tooth abnormalities are the only clinical features seen in individuals with AI4, while individuals with TDO also have hair, nail, and bone more

Tests Available

By gene: DLX3
Sanger Sequencing
Test Code: 1912
Deletion / Duplication
Test Code: 1913
NGS/Del Dup Comprehensive
Test Code: 1914

Test Details

Technical Information
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
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: 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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search