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Infantile Liver Failure Syndrome via the LARS1/LARS 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
11445 LARS1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11445LARS181479 81479,81479 $890 Order Options and Pricing

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 backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Ben Dorshorst, PhD

Clinical Features and Genetics

Clinical Features

Infantile liver failure syndrome is a life-threatening condition characterized by recurrent episodes of acute liver failure in infancy or early childhood. Less frequently, acute infantile liver failure can be caused by defects in the LARS1/LARS gene. In addition to acute liver failure, phenotypes in patients with LARS1 deficiency includes anemia, renal tubulopathy, abnormal brain MRIs, failure to thrive, developmental delay, and seizures (Casey et al. 2012. PubMed ID: 22607940).

Genetics

Infantile liver failure syndrome is an autosomal recessive disorder caused by defects in the NBAS gene or, much less frequently, in the LARS1 gene (Haack et al. 2015. PubMed ID: 26073778; Staufner et al. 2016. PubMed ID: 26541327; Casey et al. 2012. PubMed ID: 22607940).

The LARS1 gene (32 coding exons) encodes a cytoplasmic leucyl-tRNA synthetase enzyme, which catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu) during protein translation. So far, only missense variants in this gene have been reported in patients with infantile liver failure syndrome (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

The pathogenic variant detection rate in the LARS1 gene in a large cohort of patients is unavailable because documented cases in the literature are limited (Casey et al. 2012. PubMed ID: 22607940). So far, no large deletions or duplications have been reported in the LARS1 gene.

Testing Strategy

This test provides full coverage of all coding exons of the LARS1 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 acute infantile liver failure. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LARS1.

Gene

Official Gene Symbol OMIM ID
LARS1 151350
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Infantile Liver Failure Syndrome 1 AR 615438

Citations

  • Casey et al. 2012. PubMed ID: 22607940
  • Haack et al. 2015. PubMed ID: 26073778
  • Human Gene Mutation Database (Bio-base).
  • Staufner et al. 2016. PubMed ID: 26541327

Ordering/Specimens

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

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