ALPHA-1-ANTITRYPSIN DEFICIENCY PROFILE
Methodology: Polymerase Chain Reaction (PCR), Nephelometry and Isoelectric Focusing
Reporting Title: A1AT Deficiency Profile
	Test Performed At:
		Mayo Medical Laboratories #83050
	Specimen Required:
	BOTH WHOLE BLOOD AND SERUM ARE REQUIRED FOR THIS TEST.
		Blood:	Collect minimum of 3.0 mL whole blood in a lavender-top (EDTA) or a yellow-top (ACD) tube(s). Forward promptly at ambient temperature.
		Serum:	Collect 3.0 mL (1.0 mL minimum) of whole blood in a serum gel-tube or plain, red-top tube(s).
		NOTE:	A completed “Molecular Genetics –Congenital Inherited Diseases Patient Information Sheet” is REQUIRED
	Laboratory Notes:
	SPECIMEN MUST ARRIVE AT MAYO WITHIN 96 HOURS OF DRAW.
		Blood:	Forward minimum 3.0 mL of unprocessed whole blood collected in EDTA or ACD tube(s) at ambient temperature.
		Serum:	Spin, separate and send 1.0 mL (0.5 mL minimum) serum refrigerated.
		NOTE:	1.	Send a completed “Molecular Genetics –Congenital Inherited Diseases Patient Information Sheet”. It is REQUIRED
			2.	BOTH whole blood and serum must be sent for testing
			3.	No specimen should be rejected. If specimen is not received at appropriate temperature or in a wrong anticoagulant, please include note to Mayo. If questions, contact Mayo.
	Reference Values:
		Alpha-1-Antitrypsin Genotyping:				An interpretive report will be provided.
		Alpha-1-Antitrypsin:				100-190 mg/dl
	Day(s) Test Set Up:
		Monday – Friday; 8:00 a.m.
	Cut-off Time:
	Turn Around Time:
		7-10 days (5 day analytic time)
	CPT Code:
		82103 -			Alpha-1-antitrypsin
		83890 -			Molecular isolation and extraction
		83896 x 2 -			Nucleic Acid probe, each
		83898 x 2 -			Amplification of Nucleic Acid, each primer pair
		83912 -			Interpretation and report
		82104 -			A1A phenotype
	KIDDOS Order Name:
		Alpha 1 Antitrypsin Deficiency Profile
	Cerner Order Name:
		A1A Def Profile

Last Updated 11/08

Last Reviewed 12/09