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Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency via the LIAS 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
LIAS 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11885LIAS81479 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


  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency (PDHLD) appears to be an exceptionally rare disorder, with fewer than 5 cases reported to date (Mayr et al. 2011; Baker 2nd et al. 2013). Based on current knowledge, onset appears to be within the first few days of birth and begins with hypotonia and seizures. Other symptoms have included failure to thrive, feeding difficulties, sleep disturbances, severe psychomotor and developmental delays, acquired microcephaly and neurological symptoms. Biochemically, patients typically have greatly elevated lactate and glycine levels. PDHLD has been fatal in early childhood for the majority of molecularly confirmed patients. There is currently no known treatment for PDHLD (Mayr et al. 2011; Baker 2nd et al. 2013).


Current knowledge of PDHLD suggests that this is an autosomal recessive disorder, and LIAS is the only gene involved. To date, only missense variants and a small indel have been reported, and all affected patients have been homozygous for a familial variant (Mayr et al. 2011; Baker 2nd et al. 2013).

The LIAS gene encodes the pyruvate dehydrogenase lipoic acid synthetase enzyme, which is involved in the synthesis of lipoic acid within the mitochondria. Lipoic acid functions as a co-enzyme for three key mitochondrial dehydrogenase complexes in eukaryotes: the pyruvate dehydrogenase complex (PDHc), the α-ketoglutarate dehydrogenase complex (α-KGDH), and the branched chain ketoacid dehydrogenase complex (BCKDH). All three of these complexes are similar in structure and are comprised of three main subunits (E1, E2 and E3). Normally, lipoic acid is bound to the E2 subunits. PDHLD patients have been found to have greatly decreased levels of the PDHc E2 subunit, as well as decreased PDHc enzyme activity (Mayr et al. 2011). In addition to these three dehydrogenase complexes, lipoic acid is also used in the glycine cleavage system (GCS), explaining the hyperglycinemia observed in PDHLD patients (Mayr et al. 2011; Baker 2nd et al. 2013)

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.

To date, no large deletions or duplications have been described in the LIAS gene.

Testing Strategy

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

Individuals with suspected mitochondrial encephalomyopathy, neonatal-onset lactic acidosis, pyruvate oxidation deficiency and hyperglycinemia are good candidates for this test (Mayr et al. 2011). Family members of patients who have known LIAS variants are candidates. We will also sequence the LIAS gene to determine carrier status.


Official Gene Symbol OMIM ID
LIAS 607031
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

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


  • Baker P.R. 2nd. et al. 2014. Brain : a Journal of Neurology. 137: 366-79. PubMed ID: 24334290
  • Mayr J.A. et al. 2011. American Journal of Human Genetics. 89: 792-7. PubMed ID: 22152680


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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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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