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Test Code AGXTZ AGXT Gene, Full Gene Analysis

Useful For

Confirming a diagnosis of primary hyperoxaluria type 1

 

Carrier testing for individuals with a family history of primary hyperoxaluria type 1 in the absence of known mutations in the family

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

AGXT Gene, Full Gene Analysis

Specimen Type

Varies


Specimen Required


Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Additional Information: Specimen preferred to arrive within 96 hours of draw.

Forms:

1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

2. 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.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

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-Unlisted molecular pathology procedure

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AGXTZ AGXT Gene, Full Gene Analysis 69383-8

 

Result ID Test Result Name Result LOINC Value
53442 Result Summary 50397-9
53443 Result In Process
53444 Interpretation In Process
53445 Additional Information 48767-8
53446 Specimen In Process
53447 Source 31208-2
53448 Released By No LOINC Needed

Testing Algorithm

See Hyperoxaluria Diagnostic Algorithm in Special Instructions