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Glycyl tRNA Synthetase-Related Disorders via the GARS1/GARS 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
GARS1 81406 81406,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11347GARS181406 81406,81479 $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

Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472) and distal hereditary motor neuronopathy type V (HMNV; OMIM 600794) represent a phenotypic continuum of distal neuropathy with weakness and wasting starting in the distal limbs, predominately the hands. Distal sensory loss is evident in CMT2D, while in HMNV it is not, thus differentiating the two disorders (Irobi et al. Hum Mol Genet 13:195-202, 2004; Sivakumar et al. Brain 128:2304-2314, 2005). Onset is usually between childhood and young adulthood and progression is slow. Early signs in many patients are transient cramping and pain in the hands after exposure to cold, and cramping in calf muscles following exertion (Goldfarb and Sivakumar GeneReviews, 2007). Denervation is evident by electromyography, although sensory motor nerve conduction potentials are normal (Ionasescu et al. Hum Mol Genet 5:1373-1375, 1996; Sivakumar et al. 2005).


Charcot-Marie-Tooth disease, type 2D and distal hereditary motor neuronopathy, type V are inherited as autosomal dominant disorders. Variants in the gene encoding glycyl tRNA synthetase (GARS1/GARS; OMIM 600287) are the cause of both neuropathies (Antonellis et al. Am J Hum Genet 72:1293-1299, 2003). Variation in phenotypic expression exists between and within families. Most patients have an affected parent and the incidence of de novo variants is not known. In the cases thus far reported, all variants have resulted in amino acid substitutions.

Clinical Sensitivity - Sequencing with CNV PGxome

GARS1 variants have been found in less than ten families with either CMT2D or HMNV; therefore, clinical sensitivity cannot be estimated. Analytical sensitivity should be high because all GARS1 variants reported to date or of the type expected to be detected by DNA sequencing of genomic DNA.

Testing Strategy

This test provides full coverage of all coding exons of the GARS1 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 clinical symptoms consistent with a distal neuropathy with or without distal sensory loss and autosomal dominant inheritance.


Official Gene Symbol OMIM ID
GARS1 600287
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Antonellis, A., et.al. (2003). "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V." Am J Hum Genet 72(5): 1293-9. PubMed ID: 12690580
  • Ionasescu, V., et.al. (1996). "Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)." Hum Mol Genet 5(9): 1373-5. PubMed ID: 8872480
  • Irobi, J., et.al. (2004). "Molecular genetics of distal hereditary motor neuropathies." Hum Mol Genet 13 Spec No 2: R195-202. PubMed ID: 15358725
  • Lev G Goldfarb, Kumaraswamy Sivakumar (2007). "Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular Atrophy V."
  • Sivakumar, K., et.al. (2005). "Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations." Brain 128(Pt 10): 2304-14. PubMed ID: 16014653


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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