Johns Hopkins DNA Diagnostic Laboratory

PLEASE NOTE: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

Three genes have now been associated with Treacher Collins Syndrome.  These are separate tests on our requisition form, but a referrer may order them as reflexed testing as the details of a specific case dictate (see Special Considerations near the bottom of the page).
 

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Treacher Collins Syndrome (TCS1)
Gene:    TCOF1   
Pattern of Inheritance:   Autosomal Dominant
Test:   Direct mutation analysis by DNA sequencing
    
CPT Codes:
 		  83891 x 1
83898 x 26
83904 x 52
83909 x 52
83912 x 1
Sensitivity:   78-93%
   
Cost:   $2630 per individual blood sample (for mutation identification)
 
Turn Around Time:    Approximately 5 weeks
 

 

Treacher Collins Syndrome (TCS2)
Gene:    POLR1D   
Pattern of Inheritance:   Autosomal Dominant
Test:   Direct mutation analysis by DNA sequencing
    
CPT Codes:
 		  83898 x 3
83904 x 6
83909 x 6
83912 x 1
Sensitivity:   7% of TCOF1 negative patients
   
Cost:   $470 per individual blood sample (for mutation identification)
 
Turn Around Time:    Approximately 3 weeks
 

 

Treacher Collins Syndrome (TCS3)
Gene:    POLR1C   
Pattern of Inheritance:   Autosomal Recessive
Test:   Direct mutation analysis by DNA sequencing
    
CPT Codes:
 		  83898 x 10
83904 x 20
83909 x 20
83912 x 1
Sensitivity:   Approximately 1% of TCOF1 negative patients
   
Cost:   $1086 per individual blood sample (for mutation identification)

Please call for prenatal and targeted mutation prices.

Turn Around Time:    Approximately 4 weeks
 

Special Considerations:  
TCOF1 accounts for the majority of mutations, and should be ordered as a first-tier test.  POLR1D and POLR1C are ordered ideally as second-tier tests after TCOF1.  POLR1D and POLR1C may be considered in sporadic cases.  POLR1D testing should be considered if there is a family history of Treacher Collins Syndrome in multiple generations. POLR1C testing should be considered in families with multiple affected siblings or with consanguinity.  These these tests may be ordered in any combination or order desired by the referrer.  Please add comments about test order or reflexing in the Notes/Clinical Information section of the requisition form (page 2) or speak with laboratory staff to arrange testing prior to shipping the sample.

 

Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on Treacher Collins Syndrome.

Link to Patient and Family Page for general resources on genetic testing.