Aminolevulinic Acid, U - Clinical Genetic Test - GTR

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Aminolevulinic Acid, U

Clinical Genetic Test

offered by

Mayo Clinic Laboratories

View lab's test page

GTR Test Accession: GTR000613071.2

METABOLIC DISEASECONNECTIVE TISSUEINHERITED DISEASE ... View more

Last updated in GTR: 2024-04-24

Last annual review date for the lab: 2023-05-30

At a Glance

Test purpose:

Diagnosis

Conditions (5):

Porphyria; Acute intermittent porphyria; Hereditary coproporphyria; ...

Analytes (1):

aminolevulinic acid

Methods (1):

Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)

Target population:

Assisting in the differential diagnosis of the acute hepatic porphyrias

Clinical validity:

Not provided

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

Mayo Clinic Laboratories
View lab's website
View lab's test page

Test short name:

ALAUR

Specimen Source:

Urine
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Dentist
Licensed Physician
Nurse Practitioner
Physician Assistant
Public Health Mandate
Registered Nurse

Test Order Code:

ALAUR
View other test codes

LOINC codes:

**LOINC codes notice

Lab contact:

Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710

Contact Policy:

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

How to Order:

https://www.mayocliniclabs.com/test-catalog/overview/61547#Specimen
Order URL

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Based on applicable state law

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test strategy

Conditions

Total conditions: 5

Condition/Phenotype	Identifier

Test Targets

Analytes

Total analytes: 1

Analyte	Associated Condition

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Analyte

Liquid chromatography-tandem mass spectrometry (LC-MS/MS)

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis

Clinical utility:

Establish or confirm diagnosis

View citations (1)

Tortorelli S, Kloke K, Raymond K. Disorders of porphyrin metabolism. In: Dietzen DJ, Bennett MJ, Wong ECC, eds. Biochemical and Molecular Basis of Pediatric Disease. 4th ed. AACC Press; 2010:307-324

Target population:

Assisting in the differential diagnosis of the acute hepatic porphyrias

View citations (4)

Anderson KE, Lobo R, Salazar D, Schloetter M, Spitzer G, White AL, Young RM, Bonkovsky HL, Frank EL, Mora J, Tortorelli S. Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians. Am J Med Sci. 2021;362(2):113-121. doi:10.1016/j.amjms.2021.03.004. Epub 2021 Apr 16. PMID: 33865828.
Formate assay in body fluids: application in methanol poisoning. Makar AB, et al. Biochem Med. 1975;13(2):117-26. doi:10.1016/0006-2944(75)90147-7. PMID: 1. Tortorelli S, White A, Raymond K: Disorders of porphyrin metabolism. In: Dietzen DJ, Bennett MJ, Wong ECC, Haymond S, eds. Biochemical and Molecular Basis of Pediatric Disease. 5th ed. Academic Press; 2021:503-528.
Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution. Bose KS, et al. Biochem Biophys Res Commun. 1975;66(4):1173-9. doi:10.1016/0006-291x(75)90482-9. PMID: 2. Anderson KE, Sassa S, Bishop DF, Desnick RJ: Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed January 10,2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225540906.
Metal substitutions incarbonic anhydrase: a halide ion probe study. Smith RJ, et al. Biochem Biophys Res Commun. 1975;66(4):1281-6. doi:10.1016/0006-291x(75)90498-2. PMID: 3. Nuttall KL, Klee GG: Analytes of hemoglobin metabolism-porphyrins, iron, and bilirubin. In: Burtis CA, Ashwood ER, eds. Tietz Textbook of Clinical Chemistry. 5th ed. WB Saunders Company; 2001:584-607.

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
N/A

Will the lab re-contact the ordering physician if variant interpretation changes?
Not provided. N/A

Research:

Is research allowed on the sample after clinical testing is complete?
N/A

Recommended fields not provided:

Clinical validity, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Sample negative report, Sample positive report

Technical Information

Test Procedure:

Aminolevulinic acid (ALA) is determined by liquid chromatography tandem mass spectrometry (LC-MS/MS) stable isotope dilution analysis. The urine is mixed with an internal standard ([13]C5, [15]N ALA-IS) and filtered using a 0.2 mcM nylon filter vial. The ratios of the extracted peak areas of ALA to ALA-IS determined by LC-MS/MS … View more

View citations (1)

Lacey, JM, Magera MJ, Tortorelli S: Delta aminolevulinic acid quantitation in urine by LC-MS/MS. J Am Soc Mass Spectrom. 2011;22, S1:pp 69

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Accuracy was assessed by method comparison and the analysis of proficiency testing specimens and was acceptable. Intra assay precision was performed at 3 levels: CV results ranged from 2.4% to 4.3% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 7.4% to 9.6% (N=20 each). … View more

Assay limitations:

No significant cautionary statements.

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
RCPA

VUS:

Software used to interpret novel variations
N/A

Laboratory's policy on reporting novel variations
N/A

Recommended fields not provided:

Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

PubMed Clinical Queries

Reviews in PubMed

Clinical resources:

MedGen

Clinicaltrials.gov

Consumer resources:

MedlinePlusGenetics (GHR)

MedlinePlus

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.