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.

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Transthyretin Amyloidosis

Gene:    TTR 
Test:   Direct mutation analysis by gene sequencing
     
CPT Codes:
  Complete Sequence

83891 x 1
83898 x 4
83904 x 8
83909 x 8
83912 x 1

Sensitivity:   TTR mutations were identified in 20% of Swedish patients with a clinical diagnosis of familial amyloidotic polyneuropathy.  TTR mutations are also identified in patients with hyperthyroxinemia.  

Full sequencing should detect 99% of mutations.

Cost:   $662
Turn Around Time:    3 to 4 weeks
Special Considerations:   Clinical history on affected individual is requested.  
     

 Click here for Sample Requirements

Click Here for Requisition and Billing forms

Click here for clinical information on Transthyretin Amyloidosis