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Test Code
5305
Test Name
Treacher Collins Syndrome Core 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
Alternate Names
  • TCS
  • Mandibulofacial disorder
  • Treacher Collins-Franceschetti syndrome
Description

Treacher Collins syndrome (TCS) also known as mandibulofacial dysostosis or Treacher Collins-Franceschetti syndrome is a disorder of craniofacial development with an estimated incidence of 1:50,000 live births. The most common findings include downward slanting palpebral fissures and hypoplasia of the zygomatic complex and mandible. Additional findings may include microtia, malformation of the auricles and atresia of the external ear canals, anomalies of the middle ear ossicles resulting in conductive hearing loss, lower lid coloboma with paucity of lid lashes medial to the defect, macrostomia and cleft palate. TCS has variable penetrance.

The Treacher Collins syndrome core NGS panel consists of three genes: POLR1C, POLR1D and TCOF1.

Gene

Disorder

MIM

Inheritance

POLR1C

Treacher Collins syndrome 3 (TSC3)

248390

AR

POLR1D

Treacher Collins syndrome 2 (TSC2)

613717

AD

TCOF1

Treacher Collins syndrome 1 (TSC1)

154500

AD
Testing Schedule
Monday-Friday
Genes
POLR1C, POLR1D, TCOF1
Disease Group
Craniosynostosis and Craniofacial Disorders, Hearing Disorders
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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