Oculodentodigital dysplasia (ODDD) is caused by mutations in the GJA1 gene, which encodes Gap junction alpha-1 protein also known as connexin-43. The majority of cases are autosomal dominant (MIM 164200), but ODDD can also be autosomal recessive (MIM 257850). ODDD is characterized by abnormalities of the face, eyes, dentination, and digits of hands and feet.read more

Tests Available

By gene: GJA1
Sanger Sequencing
$490
Test Code: 2412
Deletion / Duplication
$680
Test Code: 2413
Sanger/Del Dup Comprehensive
$1,070
Test Code: 2414

Test Details

Technical Information
Genes: 
GJA1
Disease Groups: 
Cardiovascular Disorders
Craniosynostosis and Craniofacial Disorders
Eye Disorders
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$490
CPT Codes: 
81479 x 1
Ordering
SKU:
2412
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.

Search Tests

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