SERPINA1 Gene, Full Gene Analysis, Varies

Additional Codes

Mayo Test Code: SERPZ

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information

Molecular Genetics: SERPINA1 Gene Patient Information is required. Testing may proceed without the patient information; however, the information aids in providing a more thorough interpretation. Ordering healthcare professionals are strongly encouraged to fill out the form and send with the specimen.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Forms

1. Molecular Genetics: SERPINA1 Gene Patient Information (T521) is required

2. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

3. If not ordering electronically, complete, print, and send a Gastroenterology and Hepatology Test Request (T728) with the specimen.

Useful For

Identification of causative mutations when a deficient serum level of alpha-1-antitrypsin is not explained by routine testing, such as proteotyping, genotyping, or isoelectric focusing phenotyping.

Determining the specific allelic variant (full gene analysis) for prognosis and genetic counseling

Testing Algorithm

See Alpha-1 Antitrypsin-A Comprehensive Testing Algorithm in Special Instructions.

Special Instructions

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

Reporting Name

SERPINA1 Gene, Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type	Temperature	Time	Special Container
Varies	Refrigerated (preferred)
	Ambient
	Frozen

Reject Due To

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Method Description

Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron and exon boundaries of the SERPINA1 gene.(Unpublished Mayo method)

Day(s) Performed