Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

TREACHER COLLINS SYNDROME (TCOF1) GENE SEQUENCING

General Information

Lab Order Codes:

TCO

Synonyms:

TCOF1 Gene Sequencing

CPT Codes:

81479 – Molecular Pathology Unlisted procedure

Test Includes:

Direct mutation analysis to the TCOF1 gene by DNA sequencing.

Logistics

Test Indications:

Treacher Collins syndrome is characterized b hypoplasia of the zygmatic bones and mandible, external ear abnormalities, coloboma (notching) of the lower eyelid, absence of the lower eyelid cilia, and preauricular hair displacement. About 40-50% of individuals have conductive hearing loss attributed most commonly to malformation (including ankylosis, hypoplasia, or absence) of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other less common abnormalities include cleft palate with or without cleft lip and unilateral or bilateral choanal stenosis or atresia.

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

Johns Hopkins DNA Diagnostic Lab

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

5 weeks

Special Instructions:

A completed Johns Hopkins DNA Diagnostic Lab Requisition and Consent form must accompany the specimen or patient to the laboratory. Make sure to include parent/guardian signature, physician signature and indications for testing. This Form can be found at the following address.
Requisition/Consent
.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

6 mL (Minimum: 3 mL) blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture

Special Processing:

Lab Staff: Do Not centrifuge. Specimen should remain in original collection container. Specimen should be stored and shipped at refrigerated temperatures. Forward promptly.

Patient Preparation:

None

Sample Rejection:

Frozen specimens; mislabeled or unlabeled specimens

Interpretive

Reference Range:

Interpretive report

Critical Values:

N/A

Limitations:

N/A

Methodology:

Direct mutation analysis by DNA sequencing

References:

Johns Hopkins DNA Diagnostic Laboratory April 2010

Updates:

2/11/2013: CPT update



  Lab Test Directory
    Chemistry
    Coagulation
    Flow/Immunology
    Hematology
    Microbiology/ Virology
    Other Fluids
    Pathology
    Serology
    Transfusion Services
    Urine/Stool

  Search Lab Test Directory
    List All Documents

  Lab Staff

  E-mail Lab Services