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Test Code
5171
Test Name
Oligodontia - Selective Tooth Agenesis NGS Panel
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
Description

Oligodontia - selective tooth agenesis is a genetically heterogeneous disorder characterized by congenital absence of permanent teeth. Depending on the gene involved, specific teeth may be more likely to be missing, for example, lateral incisors (WNT10A) or second premolars and third molars (MSX1). This panel consists of nine genes, including five genes causing nonsyndromic selective tooth agenesis (MSX1, PAX9, WNT10A, LRP6, EDA, WNT10B), one gene causing oligodontia-colorectal cancer syndrome (AXIN2), one gene causing dental anomalies and short stature (LTBP3), and one gene causing primary failure of tooth eruption (PTH1R).

The oligodontia - selective tooth agenesis NGS panel consists of nine genes: AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A and WNT10B.

Gene

Disorder

MIM

Inheritance

AXIN2

Oligodontia-colorectal cancer syndrome

608615

AD

EDA

Ectodermal dysplasia 1, hypohidrotic, X-linked

Tooth agenesis, selective, X-linked 1

305100

313500

XLR

XLD

LRP6

Tooth agenesis, selective, 7

616724

AD

LTBP3

Dental anomalies and short stature

601216

AR

MSX1

Ectodermal dysplasia 3, Witkop type

Tooth agenesis, selective, 1, with or without orofacial cleft

189500

106600

AD

AD

PAX9

Tooth agenesis, selective, 3

604625

AD

PTH1R

Failure of tooth eruption, primary

125350

AD

WNT10A

Odontoonychodermal dysplasia

Schopf-Schulz-Passarge syndrome

Tooth agenesis, selective, 4

257980

224750

150400

AR

AR

AD / AR

WNT10B

Tooth agenesis, selective, 8

617073

AD
Testing Schedule
Monday-Friday
Genes
AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B
Disease Group
Hair and Nail disorders, Skin, Tooth
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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