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Sengers Syndrome via the AGK 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
AGK 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8133AGK81479 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


  • Kym Bliven, PhD

Clinical Features and Genetics

Clinical Features

Sengers syndrome is clinically characterized by exercise intolerance, hypertrophic cardiomyopathy, skeletal myopathy, and congenital cataracts (Mayr et al. 2012; Calvo et al. 2012). As a result of mitochondrial DNA (mtDNA) depletion in these individuals, patients also present with severe lactic acidemia and combined mitochondrial complex deficiencies (Calvo et al. 2012; Siriwardena et al. 2013).

This disorder can be separated into two distinct forms based on clinical onset. The most severe form of this disease, which typically occurs in neonates, is often fatal. In contrast, patients who present with Sengers syndrome in late infancy or childhood may survive for several decades following diagnosis (Mayr et al. 2012).


Autosomal recessive Sengers syndrome is caused by pathogenic variants in the AGK gene, which is located on chromosome 7q34 (Mayr et al. 2012). AGK encodes for a mitochondrial acylglycerol kinase that catalyzes the phosphorylation of diacylglycerol (DAG) and monoacylglycerol to phosphatidic acid (PA) and lysophosphatidic acid (LPA), respectively (Bektas et al. 2005). Although the precise molecular role of AGK in Sengers syndrome is still being explored, loss or inactivation of AGK may result in accumulation of cellular DAG, subsequently increasing downstream production of toxic free radicals and causing severe oxidative damage to mitochondria (Siriwardena et al. 2013). Additionally, decreases in cellular PA may also destabilize the assembly of the adenine nucleotide translocators (ANTs), a subset of highly abundant mitochondrial proteins essential for ADP/ATP translocation across the mitochondrial inner membrane (Mayr et al. 2012).

Approximately 20 different pathogenic variants have been documented for AGK-associated Sengers syndrome (Calvo et al. 2012; Mayr et al. 2012; Siriwardena et al. 2013). The majority of these variants result in premature protein truncation. However, missense variants, and at least one gross deletion have also been reported.

Clinical Sensitivity - Sequencing with CNV PGxome

Too few cases of Sengers syndrome (~40) have been reported to precisely estimate clinical sensitivity. However, as AGK is the only gene that has been associated with this disorder, clinical sensitivity is expected to be high.

Testing Strategy

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

AGK sequencing should be considered for patients who present with Sengers syndrome, or for individuals with a family history of this disorder. We will also sequence the AGK gene to determine carrier status.


Official Gene Symbol OMIM ID
AGK 610345
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Cataract 38 AR 614691
Sengers syndrome AR 212350


  • Bektas M. et al. 2005. The Journal of Cell Biology. 169: 801-11. PubMed ID: 15939762
  • Calvo S.E. et al. 2012. Science Translational Medicine. 4: 118ra10. PubMed ID: 22277967
  • Mayr J. et al. 2012. American Journal of Human Genetics. 90: 31420. PubMed ID: 22284826
  • Siriwardena K. et al. 2013. Molecular Genetics and Metabolism. 108: 40-50. PubMed ID: 23266196


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

1) Select Test Method (Platform)

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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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