Athena Diagnostics - Testing that Makes a Difference
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POU1F1 (CPHD) DNA Sequencing Test #864
Type of Disorder: Short Stature
Typical Presentation: Severe short stature and failure to thrive in young children
Indications for Testing: Combined deficiencies in growth hormone and TSH or prolactin
Disease(s) tested for: Combined Pituitary Hormone Deficiency
Test Details
Test Code: 864
Profiles that contain this test: Combined Pituitary Hormone Deficiency Evaluation
Informed Consent Required: Yes
Medicare ABN Required: Yes
Technical Information
Utility: Detects mutations in the coding sequence of the POU1F1 gene
Methodology: Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of the POU1F1 gene
Reference Value: No mutation detected
CPT Coding
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Stacked CPT Code(s): 83891(1); 83898(6); 83904(6); 83912(1)
Shipping Considerations
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 10 mL (pediatric minimum: 2 mL)
Collection Tube: Lavender top (EDTA) or yellow top (ACD-A)
Stability: Hemolysis may compromise DNA recovery and integrity after 48 hrs
Storage Conditions: For short periods (until shipped) at 4°C
Shipping Conditions: Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only
Test Turnaround: 2 - 8 weeks
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