Variant Names: 
Treacher Collins-Franceschetti syndrome (TCOF), Mandibulofacial dysostosis (MFD1)

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.read more

Tests Available

By gene: POLR1C
Sanger Sequencing
$630
Test Code: 1359
Deletion / Duplication
$680
Test Code: 1360
Sanger/Del Dup Comprehensive
$1,210
Test Code: 1679

Test Details

Technical Information
Genes: 
POLR1C
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Hearing Disorders
MIM: 
248390
Billing
Price: 
$630
CPT Codes: 
81479 x 1
Ordering
SKU:
1359
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.

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