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 abnormalities.read more

Tests Available

By gene: DLX3
Sanger Sequencing
$495
Test Code: 1915
Deletion / Duplication
$680
Test Code: 1916
Sanger/Del Dup Comprehensive
$1,075
Test Code: 1917

Test Details

Technical Information
Genes: 
DLX3
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
190320
Billing
Price: 
$495
CPT Codes: 
81479 x 1
Ordering
SKU:
1915
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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