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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


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.

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 

Reject Due To

No specimen should be rejected.

Reference Values

An interpretive report will be provided.

 

Day(s) and Time(s) Performed

Performed weekly; Varies

Analytic Time

14 days

Performing Laboratory

Mayo Medical 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 In Process

 

Result ID Test Result Name Result LOINC Value
113178 Result Summary 50397-9
113179 Result In Process
113180 Interpretation In Process
113181 Additional Information In Process
113182 Specimen In Process
113183 Source In Process
113184 Released By In Process