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Test ID SERPZ SERPINA1 Gene, Full Gene Analysis, Varies


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.

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) Performed

Varies

Report Available

14 to 20 days

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. It has not been cleared or approved by the US 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 94222-7

 

Result ID Test Result Name Result LOINC Value
113178 Result Summary 50397-9
113179 Result 82939-0
113180 Interpretation 69047-9
113181 Additional Information 48767-8
113182 Specimen 31208-2
113183 Source 31208-2
113184 Released By 18771-6