DNA icon

Ethylmalonic Encephalopathy via the ETHE1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
ETHE1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7637ETHE181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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

Ethylmalonic encephalopathy (OMIM #602473) is an infantile metabolic disorder affecting brain, gastrointestinal tract, and peripheral vessels (Tiranti et al. Am J Hum Genet 74(2):239-252, 2004; Tiranti et al. J Med Genet 43(4):340-346, 2006). Affected children have neurodevelopmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, prominent pyramidal and extrapyramidal signs, and chronic diarrhea. The main neuropathological features of the disease are symmetrical necrotic lesions in the deep gray matter structures. Ethylmalonic acid levels are increased in body fluids and cytochrome c oxidase activity is decreased in skeletal muscle. Death occurs in the first decade of life. This disease has been mainly found in children of Mediterranean or Arab descent.


Ethylmalonic encephalopathy is an autosomal recessive disorder caused by defects in the ETHE1 gene (Tiranti et al., 2004; Tiranti et al., 2006). ETHE1 has 7 exons that encode a sulfur dioxygenase, which is a member of the sulphide detoxification pathway and is important in mitochondrial homeostasis and energy metabolism. Genetic defects located throughout the ETHE1 gene include missense, nonsense, splicing mutations and small deletion/insertions (Tiranti et al., 2004; Tiranti et al., 2006). Gross deletions within the ETHE1 gene are common, accounting for approximately 20% of pathogenic alleles. In particular, deletion of exon 4 has been most frequently reported (Tiranti et al., 2004; Tiranti et al., 2006; Drousiotou et al. Clin Genet 79(4):385-390, 2011).

Clinical Sensitivity - Sequencing with CNV PG-Select

Approximately 75-80% of ETHE1 mutations have been identified via Sanger sequencing of coding exons and flanking sequences (Tiranti et al. J Med Genet 43(4):340-346, 2006; Mineri et al. J Med Genet 45(7):473-478, 2008).

Testing Strategy

This test provides full coverage of all coding exons of the ETHE1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with ethylmalonic encephalopathy. Testing is also indicated for family members of patients who have known ETHE1 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ETHE1.


Official Gene Symbol OMIM ID
ETHE1 608451
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Ethylmalonic Encephalopathy AR 602473

Related Test

Leigh and Leigh-Like Syndrome Panel (Nuclear Genes Only)


  • Drousiotou, A. et al. (2011). “Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.” Clin Genet 79(4):385-390. PubMed ID: 20528888
  • Mineri, R. et al. (2008). “Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.” J Med Genet 45(7):473-478. PubMed ID: 18593870
  • Tiranti, V. et al. (2004). “Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.” Am J Hum Genet 74(2):239-252. PubMed ID: 14732903
  • Tiranti, V. et al. (2006.) "ETHE1 mutations are specific to ethylmalonic encephalopathy." J Med Genet 43(4):340-346. PubMed ID: 16183799


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

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard