icd 10 code for mthfr test

What is the ICD 10 code for MTHFR deficiency?

Deficiency, deficient. methylenetetrahydrofolate reductase E72.12 (MTHFR) Disorder (of) - see also Disease. metabolism NOS E88.9. ICD-10-CM Diagnosis Code E88.9. Metabolic disorder, unspecified. 2016 2017 2018 2019 2020 2021 Billable/Specific Code. amino-acid E72.9. ICD-10-CM Diagnosis Code E72.9.

Is hyperhomocysteinemia caused by MTHFR?

Reduced methylenetetrahydrofolate reductase (MTHFR) enzyme activity is a genetic risk factor for hyperhomocysteinemia, especially when present with low serum folate levels. Two common variants in the MTHFR gene result in reduced enzyme activity.

What is the ICD 10 code for metabolic disorder?

Diagnosis Index entries containing back-references to E72.12: Deficiency, deficient methylenetetrahydrofolate reductase E72.12 (MTHFR) Disorder (of) - see also Disease metabolism NOS E88.9 ICD-10-CM Diagnosis Code E88.9. Metabolic disorder, unspecified 2016 2017 2018 2019 Billable/Specific Code

Which variants of the MTHFR gene result in reduced enzyme activity?

Two common variants in the MTHFR gene result in reduced enzyme activity. The "thermolabile" variant C677T [NM 005957.3: c.665C>T (p.A222V)] and A1298C [c. 1286A>C (p.E429A)] occur frequently in the general population. Mild to moderate hyperhomocysteinemia has been identified as a risk factor for coronary artery disease and venous thromboembolism.

What is the ICD-10-CM code for MTHFR mutation?

Names and CodesCondition:1Methylene tetrahydrofolate reductase deficiencySNOMED CT Code:341797007—5,10-Methylenetetrahydrofolate reductase deficiency UMLS CUI:4C0268615ICD-9-CM Code:5270.4—Disturbances of sulphur-bearing amino-acid metabolismICD-10-CM Code:6E72.12—Methylenetetrahydrofolate reductase deficiency2 more rows

What is the ICD-10 code for genetic testing?

ICD-10-CM Code for Encounter for screening for genetic and chromosomal anomalies Z13. 7.

What is diagnosis code Z13 79?

ICD-10 code Z13. 79 for Encounter for other screening for genetic and chromosomal anomalies is a medical classification as listed by WHO under the range - Factors influencing health status and contact with health services .

What does MTHFR stand for?

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving the vitamin folate (also called vitamin B9).

What is the ICD 10 code for genetic mutation?

Chromosomal abnormality, unspecified Q99. 9 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2022 edition of ICD-10-CM Q99. 9 became effective on October 1, 2021.

What is CPT code for genetic testing?

Providers should refer to the current CPT book for applicable CPT codes.CodeDescription81205Bckdhb gene81206Bcr/abl1 gene major bp81207Bcr/abl1 gene minor bp81208Bcr/abl1 gene other bp72 more rows•Dec 30, 2021

Is CPT 81420 genetic testing?

Sequencing-based non-invasive prenatal testing (NIPT) (CPT® codes 81420, 81507) to screen for fetal trisomy 13, 18 and 21 is considered medically necessary in a viable single or twin gestation pregnancy ≥ 10 weeks gestation.

What is procedure code 81420?

81420: Fetal chromosomal aneuploidy (e.g., trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosomes 13, 18, and 21.

What is genetic testing used for?

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.

Is MTHFR an autoimmune disorder?

The MTHFR mutation will also cause issues with detoxing properly, as well as issues with hormone balance and immune system function. It has been associated with autoimmune conditions such as fibromyalgia, Hashimoto's, and lupus.

Is MTHFR a blood disorder?

Elevated homocysteine levels may cause irritation of the blood vessels and are considered a risk factor for blood clots. Individuals with MTHFR mutations who have normal homocysteine levels are not at increased risk for clots. Thus, the MTHFR mutation by itself is not a clotting disorder.

How do you know if you have the MTHFR mutation?

Diagnosing an MTHFR mutation A doctor can determine whether or not a person has an MTHFR variant by reviewing their medical history, considering their current symptoms, and performing a physical examination. The doctor may recommend running a blood test to check the person's homocysteine levels.

What percentage of African Americans are C677T homozygotes?

Five percent of Caucasians and 1.4% of African-Americans are C677T homozygotes, and are likely to have elevated serum homocysteine levels. A second mutation, A1298C, is also relatively common. Data suggests that combined heterozygosity for the two mutations may result in features similar to those of C677T homozygotes.

What are the factors that affect the levels of homocysteine in the blood?

The levels of homocysteine in the serum are influenced by both genetic and environmental factors . One of the genetic factors involves point mutations in the methylenetetrahydrofolate reductase (MTHFR) gene (OMIM 607093).

What is the effect of mutation C677T?

One mutation, C677T, results in the MTHFR enzyme being 20% less efficient in metabolizing homocysteine, thus increasing serum levels, especially when plasma folate levels are at the lower end of normal.

Can you test for hyperhomocysteinemia with DNA?

The diagnosis of hyperhomocysteinemia cannot rely on DNA testing alone but should take into consideration clinical findings and other studies, such as serum homocysteine levels. Prenatal testing is not available. This test was developed, and its performance characteristics determined, by LabCorp.

Can MTHFR cause early pregnancy loss?

Hyperhomocysteinemia has been found in women who have experienced two or more early pregnancy losses, placental infarction, and fetal growth retardation, but MTHFR mutation as a cause for early pregnancy loss is still controversial.

What is the function of MTHFR?

In turn, 5-methyltetrahydrofolate is involved in the conversion of homocysteine to methionine. MTHFR has an important role in maintaining folate and methionine levels, as well as helping to keep circulating homocysteine levels low. MTHFR is also involved in the methylation pathway, which has multiple, wide-ranging roles in the body, including regulation of gene expression and enzymatic activities1.

Can MTHFR be tested for homocysteine?

MTHFR testing may be performed on individuals with elevated homocysteine levels, those with a personal or family history of premature cardiovascular disease, and those who have family members with a known MTHFR mutation.

Assay Category

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Alternative Specimen (s)

Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), ACD solution A or B (yellow-top) tube, or lithium heparin (green-top) tube

General Information

CPT codes, descriptions and other data only are copyright 2021 American Medical Association. All Rights Reserved. Applicable FARS/HHSARS apply.

CMS National Coverage Policy

Title XVIII of the Social Security Act, §1833 (e) prohibits Medicare payment for any claim lacking the necessary documentation to process the claim.

Article Guidance

The information in this article contains billing, coding or other guidelines that complement the Local Coverage Determination (LCD) for MolDX: Genetic Testing for Hypoercoagulability / Thrombophilia (Factor V Leiden, Factor II Prothrombin, and MTHFR) L36400.

Bill Type Codes

Contractors may specify Bill Types to help providers identify those Bill Types typically used to report this service. Absence of a Bill Type does not guarantee that the article does not apply to that Bill Type.

Revenue Codes

Contractors may specify Revenue Codes to help providers identify those Revenue Codes typically used to report this service. In most instances Revenue Codes are purely advisory. Unless specified in the article, services reported under other Revenue Codes are equally subject to this coverage determination.