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Atypical Hemolytic-Uremic Syndrome and Nephrotic Syndrome via the DGKE 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
DGKE 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11227DGKE81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Hemolytic-uremic syndrome (HUS) is characterized by episodes of small-vessel thrombosis resulting in microangiopathic hemolytic anemia, thrombocytopenia and renal failure. Atypical hemolytic-uremic syndrome (aHUS) is characterized by glomerular microangiopathy, non-immune hemolytic anemia and thrombocytopenia (Nester et al. 2015). Compared with the more common diarrhea-associated HUS (D+HUS), aHUS has a much higher risk of progression to end-stage renal failure (50%) or death (25%). Patients with DGKE-related aHUS develop symptoms in the first year of life including persistent hypertension, hematuria and proteinuria (sometimes in the nephrotic range), and progressive chronic kidney disease (Lemaire et al. 2013; Quaggin 2013; Westland et al. 2014). This is a type of aHUS not related to abnormal activation of the complement system.

DGKE defects can also cause nephrotic syndrome in early childhood, mostly in the first five years of life, with proteinuria and low serum albumin at onset (Ozaltin et al. 2013). The remarkable feature of renal biopsies in DGKE-caused nephrotic syndrome is glomerular injury with membranoproliferative glomerulonephritis (MPGN). Progression rate to end-stage renal failure varies among these patients.


Both DGKE-related aHUS and nephrotic syndrome are autosomal recessive disorders (Lemaire et al. 2013; Westland et al. 2014; Ozaltin et al. 2013). The DGKE gene has 11 coding exons that encode diacylglycerol kinase-epsilon, an intracellular lipid kinase that phosphorylates diacylglycerol (DAG) to phosphatidic acid. Genetic defects of DGKE found to date include missense, nonsense, splicing mutations and small deletions (Human Gene Mutation Database). No large deletions or duplications have been reported.

Clinical Sensitivity - Sequencing with CNV PGxome

Among 83 unrelated probands with early-onset atypical hemolytic uremic syndrome (DGKE pathogenic variants were found in four (6.8%) (Sánchez Chinchilla et al. 2014).

Among 142 unrelated probands with membranoproliferative glomerulonephritis (MPGN), DGKE pathogenic variants were found in two (1.4%) (Ozaltin et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the DGKE 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

Candidates for this test are patients with aHUS or nephrotic syndrome associated with membranoproliferative glomerulonephritis (MPGN). Testing is also indicated for family members of patients who have known pathogenic variants in the DGKE gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DGKE.


Official Gene Symbol OMIM ID
DGKE 601440
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Nephrotic Syndrome, Type 7 AR 615008


  • Human Gene Mutation Database (Bio-base).
  • Lemaire M. et al. 2013. Nature genetics. 45: 531-6.  PubMed ID: 23542698
  • Nester CM. et al. 2015. Molecular immunology. 67: 31-42.  PubMed ID: 25843230
  • Ozaltin F. et al. 2013. Journal of the American Society of Nephrology : JASN. 24: 377-84. PubMed ID: 23274426
  • Quaggin SE. 2013. Nature genetics. 45: 475-6.  PubMed ID: 23619787
  • Sánchez Chinchilla D. et al. 2014. Clinical journal of the American Society of Nephrology : CJASN. 9: 1611-9. PubMed ID: 25135762
  • Westland R. et al. 2014. Journal of the American Society of Nephrology : JASN. 25: 1408-14.  PubMed ID: 24511134


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

No Additional Test Options are available for this test.

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