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Combined Pituitary Hormone Deficiency Evaluation	#865

Test Details

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 Code:	865

Profile includes:	POU1F1 (CPHD) DNA Sequencing Test, PROP1 (CPHD) DNA Sequencing Test

Informed Consent Required:	Yes

Medicare ABN Required:	Yes

Technical Information

Utility:	Detects mutations in the coding sequence of the POU1F1 and PROP1 genes

Methodology:	Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of the POU1F1 and PROP1 genes

Reference Value:	No mutation detected

CPT Code(s):	83891(1); 83898(9); 83904(9); 83912(1)

Shipping Considerations

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:	21-28 days

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