SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 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
11727 SUCLG2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11727SUCLG281479 81479 $890 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.

For Reflex to PGxome pricing click here.

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

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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


Genetic Counselors


Clinical Features and Genetics

Clinical Features

Mitochondrial DNA (mtDNA) depletion syndromes are characterized by deficiencies in the maintenance or integrity of the mtDNA genome, resulting in a significant decrease in the abundance of mtDNA within the cell (El-Hattab et al. 2013). These diseases, which exhibit significant clinical and genetic heterogeneity, are caused by defects in nuclear-encoded genes. Depletion of mtDNA content impairs energy production in either a tissue-specific or multi-system manner. Clinical presentation of this disorder generally falls into one of four categories (myopathic, encephalomyopathic, hepatocerebral, or neurogastrointestinal), although initial symptoms may overlap between or progress into multiple categories depending on the gene(s) affected (Suomalainen et al. 2010). Onset ranges from the neonatal period to adolescence. The SUCLG2 gene encodes for the beta subunit of the GDP-forming isoform of the succinyl-CoA ligase (Miller et al. 2010). Variants responsible for human disease have not yet been reported in this gene, although pathogenic variants in two other succinyl-CoA ligase subunit genes, SUCLA2 and SUCLG1, are causative for mtDNA depletion syndrome (Ostergaard et al. 2007; Carrozzo et al. 2007). Given the close association of the SUCLG2 gene with SUCLA2 and SUCLG1, SUCLG2 has been included in our Mitochondrial Genome Maintenance/Integrity Nuclear Genes NextGen Sequencing (NGS) Panel (Test #1399).


Mitochondrial DNA (mtDNA) depletion syndromes are caused by pathogenic variants in nuclear genes such as TK2, SUCLA2, SUCLG1, RRM2B, DGUOK, TYMP, POLG, C10orf2, MGME1, MPV17, AGK, and FBXL4 (El-Hattab et al. 2013; Kornblum et al. 2013; Mayr et al. 2012; Gai et al. 2013). These genes, in addition to SUCLG2, are covered by our Mitochondrial Genome Maintenance/Integrity Nuclear Genes NextGen Sequencing (NGS) Panel (Test #1399). Succinyl-CoA ligase, an enzyme of the citric acid cycle, catalyzes the reversible conversion of succinyl-CoA, phosphate, and ADP (or GDP) to succinate, coenzyme A (CoASH), and ATP (or GTP). This enzyme is composed of two subunits: an invariant alpha subunit encoded by SUCLG1 and a beta subunit encoded by either SUCLA2 or SUCLG2. Nucleotide specificity is determined by the beta subunit, resulting in the ADP- or GDP-forming isoforms of succinyl-CoA ligase, respectively. Although SUCLG2 pathogenic variants have not yet been reported, variants in SUCLG1 and SUCLA2 have been associated with autosomal recessive mtDNA depletion syndrome (Ostergaard et al. 2007; Carrozzo et al. 2007). Furthermore, knockdown of SUCLG2 by shRNA in vitro significantly decreases cellular mtDNA content, demonstrating that SUCLG2 may also play an important role in mitochondrial maintenance (Miller et al. 2010).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in SUCLG2 have not yet been identified. Therefore, we are unable to estimate clinical sensitivity at this time.

Testing Strategy

This test provides full coverage of all coding exons of the SUCLG2 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

SUCLG2 sequencing should be considered for patients who present with mitochondrial DNA (mtDNA) depletion syndromes or for individuals with a family history of mtDNA depletion syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SUCLG2.


Official Gene Symbol OMIM ID
SUCLG2 603922
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Carrozzo R. et al. 2007. Brain 130: 862–74. PubMed ID: 17301081
  • El-Hattab A. et al. 2013. Neurotherapeutics. 10: 186-98. PubMed ID: 23385875
  • Gai X. et al. 2013. American Journal of Human Genetics. 93: 482–95. PubMed ID: 23993194
  • Kornblum C. et al. 2013. Nature Genetics. 45: 214–9. PubMed ID: 23313956
  • Mayr J. et al. 2012. American Journal of Human Genetics. 90: 314–20. PubMed ID: 22284826
  • Miller C. et al. 2011. Biochimica Et Biophysica Acta. 1812: 625-9. PubMed ID: 21295139
  • Ostergaard, E. et al. 2007. American Journal of Human Genetics. 81:383-7.  PubMed ID: 17668387
  • Suomalainen A. et al. 2010. Neuromuscular Disorders. 20: 429–37. PubMed ID: 20444604


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.

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

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Type

2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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