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Genetics Lab

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Primary Hyperoxaluria Type I - Known Mutation Analysis

Primary hyperoxaluria type I (PH1) is an autosomal recessive disorder of glyoxylate metabolism resulting from a deficiency of the liver peroxisomal enzyme alanine-glyoxylate transaminase, encoded by the AGXT gene. This leads to calcium salts forming in the kidneys and other organs causing progressive decline in renal function and end stage renal disease (ESRD). The age of onset of symptoms ranges from childhood to adulthood but 80-90% of affected individuals present in late childhood or early adolescence. Presumptive diagnosis is made measuring urine oxalate:creatinine ratio and plasma oxalate concentration. Diagnostic confirmation can be made by AGT enzyme activity from liver biopsy, or by gene sequencing, which is less invasive. Carrier testing for biological family members is available once mutations are known.

Test Name: AGXT Known Mutation
Test Code:
AGXT KNOWN
Test Description:
Analysis of the AGXT gene for known familial mutations.
Synonyms:
oxalosis; glycolic aciduria
Indication:
This test is used for carrier testing at-risk relatives and prenatal testing for confirmed carriers. Mutations must be known.
Related Tests: AGXT Sequencing Analysis  
This test is used to provide additional information regarding diagnosed patients or as a secondary confirmation of diagnosis.

Clinical Links: Primary Hyperoxaluria Type I GeneReview
Availability:
Mon - Fri
Turnaround Time:
1 week
Methodology:
PCR and Sequencing
Reference Range:
Interpretive report provided
Requisition:
Consent Form:
Sample Requirements: Type
Whole blood: 1-3 mL in EDTA (purple top) or ACD (yellow top). 5-10ug extracted DNA

Processing
Do not spin. Keep at room temperature.

Shipping
Room temperature via overnight shipping. Blood samples must be processed within 3 days of collection.
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST
Special Considerations:
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions