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Test Code
2414
Test Name
Oculodentodigital Dysplasia
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
ODDD
Description

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. Typical findings include long, narrow nose, hypoplastic nasal alae, microcornea, microphthalmia, short palpebral fissures, cataract, iris anomalies, and syndactyly of 4th - 5th fingers. Additional findings may include cardiac defects, conductive hearing loss, anomalies of the skin, hair and nails, and neurological manifestations such as paraparesis, ataxia, spasticity, dysarthria, seizures and neurogenic bladder.

Autosomal recessive mutations in the GJA1 gene can also cause hypoplastic left heart syndrome 1 (HLHS1; MIM 241550), which results from defective development of the aorta proximal to the entrance of the ductus arteriosus. Hypoplastic left heart syndrome 2 (HLHS2; MIM 614435) is an autosomal dominant disorder, caused by mutation in the NKX2-5 gene.
Testing Schedule
Monday-Friday
Genes
GJA1
Disease Group
Cardiovascular Disorders, Craniosynostosis and Craniofacial Disorders, Hair and Nail disorders, Ophthalmology, Skin
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. View the Terms.
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