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Test ID: MLYCZ MLYCD Gene, Full Gene Analysis

Useful For

Confirmation of diagnosis of malonyl-CoA decarboxylase deficiency

 

Carrier screening in cases where there is a family history of malonyl-CoA decarboxylase deficiency, but disease-causing mutations have not been identified in an affected individual

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.

Method Name

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

Reporting Name

MLYCD Gene, Full Gene Analysis

Specimen Type

Varies


Specimen Required


Specimen preferred to arrive within 96 hours of collection.

 

Submit only 1 of the following specimens:

 

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.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours

 

Specimen Type: Skin biopsy

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Minimum Volume

Blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Clinical Information

Malonyl-coenzyme A decarboxylase (MCD) deficiency is a rare autosomal recessive inborn error of fatty acid metabolism characterized by reduced activity of mitochondrial malonyl-CoA decarboxylase. This enzyme is responsible for conversion of intramitochondrial malonyl-CoA to acetyl-CoA and carbon dioxide. This leads to an accumulation of malonyl-CoA, which is a strong inhibitor of carnitine palmitoyltransferase-I (CPT-I), an enzyme active in beta-oxidation of fatty acids. The resulting effect is impairment of the breakdown of fatty acids. Isoforms of CPT-I have been found in skeletal and heart muscle, liver, and brain, and symptoms seem to correlate with the localization of these isoforms. The phenotype associated with MCD deficiency is variable, but may include developmental delay, seizures, hypotonia, metabolic acidosis, hypoglycemia, ketosis, and cardiomyopathy.

                                                                       

The diagnosis of MCD deficiency is based on the findings of high urinary excretion of malonic acid and a mild increase in dicarboxylic acid. Acylcarnitine analysis by tandem mass spectrometry shows high blood levels of malonylcarnitine (C3DC), which can be detected by neonatal screening before the appearance of symptoms. Determination of MCD activity in cultured fibroblasts can confirm the diagnosis, although this testing is not currently clinically available in the United States.

 

Mutations in the MLYCD gene are responsible for MCD deficiency. The MLYCD gene is located on chromosome 16 and has 5 coding exons. Several different mutations have been described including missense, nonsense, small insertions and deletions, as well as large genomic deletions.

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations are evaluated according to American College of Medical Genetics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

2. Salomons GS, Jakobs C, Landegge Pope L, et al: Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. J Inherit Metab Dis 2007;30:23-28

3. Wightman PJ, Santer R, Ribes A, et al: MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency. Hum Mutat 2003;22:288-300

Day(s) and Time(s) Performed

Performed weekly, varies

Analytic Time

14 days

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

Fibroblast Culture for Genetic Test

88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MLYCZ MLYCD Gene, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
53519 Result Summary 50397-9
53520 Result In Process
53521 Interpretation In Process
53522 Additional Information 48767-8
53523 Specimen In Process
53524 Source 31208-2
53525 Released By No LOINC Needed

Forms

1. Molecular Genetics: Biochemical Disorders Patient Information (T527) 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.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular