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Roberts Syndrome via the ESCO2 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
ESCO2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11301ESCO281479 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


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Roberts syndrome (RBS; OMIM#268300), also known as Roberts-SC phocomelia syndrome (OMIM#269000), is characterized by prenatal growth retardation, limb malformations including bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening, and craniofacial abnormalities including bilateral cleft lip or palate, micrognathia, hypertelorism, exophthalmos, downslanting palpebral fissures, malar hypoplasia, hypoplastic nasal alae, and ear malformation. Upper limbs are more severely affected than lower limbs. Mortality is high among severely-affected pregnancies and newborns. Mildly affected individuals may survive to adulthood (Gordillo et al. GeneReviews. 2009). The diagnosis of RBS relies on cytogenetic testing, which shows the characteristic chromosomal abnormality of premature centromere separation and separation of the heterochromatic regions in most metaphase chromosomes.


Roberts Syndrome (RBS) is inherited in an autosomal recessive manner and is caused by variants in the ESCO2 gene. ESCO2 (establishment of cohesion 1 homolog 2) contains two different domains, a C-terminal portion with acetyltransferase activity and an N-terminal portion that binds to chromatin (Vega et al. Nat Genet 37:468-470, 2005). The acetyltransferase domain is proposed to play an important role in establishing sister chromatid cohesion during S phase after DNA replication (Williams et al. Curr Biol 3:2025-2036, 2003). The majority of variants in ESCO2 are frameshift or nonsense variants that lead to protein truncation or nonsense-mediated decay, which suggests that the molecular mechanism underlying RBS involves loss of acetyltransferase activity. The rare missense variants in this gene lead to highly conserved amino acid substitutions in the acetyltransferase domain and cause loss of acetyltransferase activity equivalent to that produced by truncating variants (Gordillo et al. Hum Mol Genet 17:2172–2180, 2008; Vega et al. J Med Genet 47:30-37, 2010).

Clinical Sensitivity - Sequencing with CNV PGxome

To date, all individuals with a cytogenetic diagnosis of RBS have had variants in ESCO2 (Gordillo et al. 2009).

Testing Strategy

This test provides full coverage of all coding exons of the ESCO2 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 features consistent with Roberts syndrome and family members of patients who have known ESCO2 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ESCO2.


Official Gene Symbol OMIM ID
ESCO2 609353
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Roberts Syndrome AR 268300


  • Gordillo, M., et.al. (2008). "The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity." Hum Mol Genet 17(14): 2172-80. PubMed ID: 18411254
  • Miriam Gordillo (2009). "Roberts Syndrome."
  • Vega, H., et.al. (2005). "Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion." Nat Genet 37(5): 468-70. PubMed ID: 15821733
  • Vega, H., et.al. (2010). "Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome." J Med Genet 47(1): 30-7. PubMed ID: 19574259
  • Williams, B. C., et.al. (2003). "Two putative acetyltransferases, san and deco, are required for establishing sister chromatid cohesion in Drosophila." Curr Biol 13(23): 2025-36. PubMed ID: 14653991


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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