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Test Code SERPZ SERPINA1 Gene, Full Gene Analysis


Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



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. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions and Forms.

3. If not ordering electronically, complete, print, and send a Gastroenterology and Hepatology Client 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.

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
Varies Refrigerated (preferred)
  Ambient 
  Frozen 

Reference Values

An interpretive report will be provided.

 

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SERPZ SERPINA1 Gene, Full Gene Analysis 38409-9

 

Result ID Test Result Name Result LOINC Value
113178 Result Summary 50397-9
113179 Result 21723-2
113180 Interpretation 69047-9
113181 Additional Information 48767-8
113182 Specimen 31208-2
113183 Source 31208-2
113184 Released By 18771-6