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Dimethylglycine Dehydrogenase Deficiency via the DMGDH Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
DMGDH 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4331DMGDH81479 81479,81479 $990 Order Options and Pricing

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

DMGDH deficiency is caused by a defect in the mitochondrial enzyme dimethylglycine dehydrogenase. To date, only a single patient with a defect in the DMGDH enzyme has been described. This patient presented with markedly increased concentrations of dimethylglycine in his urine and serum, a fishlike body odor that increased in intensity with physiological stressors or activity, and chronic muscle fatigue accompanied by increased serum creatine kinase levels (Moolenaar et al. 1999; Binzak et al. 2001). He was found to have normal growth and intelligence, and all other metabolic testing was normal (Binzak et al. 2001). Onset of symptoms occurred at 5 years of age, and the patient was still symptomatic when diagnosed in his late 30s.

The DMGDH enzyme is a folate binding protein, and for this reason, patients with folate or cobalamin disorders are sometimes found to have increased dimethylglycine levels in the urine or serum. In contrast, the described DMGDH deficient patient had normal biochemical test results for folate and cobalamin disorders (Moolenaar et al. 1999; Binzak et al. 2001).


The DMGDH enzyme is encoded by the DMGDH gene, which is located on chromosome 5 (at 5q14.1). Thus far, DMGDH deficiency appears to be inherited in an autosomal recessive manner (Binzak et al. 2001). The one reported patient with a deficiency in the DMGDH gene was found to have a missense substitution, His109Arg, in the homozygous state (Moolenaar et al. 1999; Binzak et al. 2001; Human Gene Mutation Database).

The dimethylglycine dehydrogenase (DMGDH) enzyme is involved in the catabolism of choline within the mitochondria. This enzyme is responsible for the transfer of one methyl group from dimethylglycine to form the modified amino acid sarcosine, which is one step in the choline catabolic pathway (Moolenaar et al. 1999; Binzak et al. 2001).

Clinical Sensitivity - Sequencing with CNV PGxome

At this time, the sensitivity of this test is difficult to estimate due to the low number of cases reported in the literature. Analytical sensitivity may be high as the only reported causative variant is detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the DMGDH gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with elevated urine and/or serum dimethylglycine levels are good candidates for this test, particularly if other metabolic testing is normal, including testing for folate and cobalamin disorders. Family members of patients known to have DMGDH variants are also good candidates, and we will sequence the DMGDH gene to determine carrier status.


Official Gene Symbol OMIM ID
DMGDH 605849
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Dimethylglycine Dehydrogenase Deficiency AR 605850


  • Binzak B.A. et al. 2001. American Journal of Human Genetics. 68: 839-47. PubMed ID: 11231903
  • Human Gene Mutation Database (Bio-base).
  • Moolenaar S.H. et al. 1999. Clinical Chemistry. 45: 459-64. PubMed ID: 10102904


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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