Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma - Clinical Genetic Test - GTR

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Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma

Clinical Genetic Test

offered by

Mayo Clinic Laboratories

View lab's test page

GTR Test Accession: GTR000603779.3

METABOLIC DISEASEINHERITED DISEASEOPHTHALMOLOGY ... View more

Last updated in GTR: 2024-04-19

Last annual review date for the lab: 2024-05-28

At a Glance

Test purpose:

Monitoring; Screening

Conditions (7):

Inborn disorder of cobalamin metabolism and transport; Classic homocystinuria; Hepatic methionine adenosyltransferase deficiency; ...

Analytes (6):

2-methylcitric acid; Cystathionine; Homocysteine; Methionine; Methyl malonic acid; ...

Methods (1):

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

Target population:

Screening and monitoring patients suspected of or confirmed with an …

Clinical validity:

Not provided

Clinical utility:

Establish or confirm diagnosis, guidance for management

Ordering Information

Offered by:

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

Test short name:

CMMPP

Specimen Source:

Plasma
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:

CMMPP
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/606103#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: 7

Condition/Phenotype	Identifier

Test Targets

Analytes

Total analytes: 6

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:

Monitoring; Screening

Clinical utility:

Establish or confirm diagnosis, guidance for management

View citations (1)

Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. J Pediatr. 2010;157(2):271-5. doi:10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14. PMID: 20394947.

Target population:

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens. Evaluating individuals with suspected deficiency of vitamin B12.

View citations (4)

Solomon LR. Disorders of cobalamin (vitamin B12) metabolism: emerging concepts in pathophysiology, diagnosis and treatment. Blood Rev. 2007;21(3):113-30. doi:10.1016/j.blre.2006.05.001. Epub 2006 Jul 11. PMID: 16814909.
Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. J Pediatr. 2010;157(2):271-5. doi:10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14. PMID: 20394947.
Turgeon CT, Magera MJ, Cuthbert CD, Loken PR, Gavrilov DK, Tortorelli S, Raymond KM, Oglesbee D, Rinaldo P, Matern D. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem. 2010;56(11):1686-95. doi:10.1373/clinchem.2010.148957. Epub 2010 Aug 31. PMID: 20807894.
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ. Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. J Inherit Metab Dis. 2017;40(1):5-20. doi:10.1007/s10545-016-9972-7. Epub 2016 Sep 26. PMID: 27671891.

Variant Interpretation:

Are family members with defined clinical status recruited to assess significance of VUS without charge?
Decline to answer.

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

Recommended fields not provided:

Clinical validity, What is the protocol for interpreting a variation as a VUS?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Test Procedure:

Total homocysteine, total cysteine, 2-methylcitric acid, methionine, cystathionine and methylmalonic acid are measured by stabile isotope dilution microflow liquid chromatography tandem mass spectrometry.(Unpublished Mayo method)

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Recovery was used to assess accuracy; mean recovery was 98%. Intra assay precision was performed at 3 levels: CV results ranged from 2%-7% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 3%-9% (N=20 each). The analytical measurement range varies per analyte but ranges from … View more

Assay limitations:

Normal levels may be seen in patients undergoing treatment.

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS

Description of PT method:
Formal PT program and Intra-laboratory alternative assessment of performance through quality control or patient blind testing

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.

Recommended fields not provided:

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

Regulatory Approval

FDA Review:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Consumer resources:

NCATS Office of Rare Diseases Research (GARD)

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.