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Rothmund Thomson Syndrome via the RECQL4 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
RECQL4 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11615RECQL481479 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


  • Yuan Xue, PhD

Clinical Features and Genetics

Clinical Features

Rothmund Thomson Syndrome (RTS) presents skeletal (e.g. small stature, dysplasias) and cutaneous abnormalities, with a high incidence of osteosarcomas and non-melanoma skin cancer. Individuals with RTS are photosensitive and have facial erythema and swelling in the first months of life. In addition, they present erythema in their buttocks and extremities, while sparing the trunk, and also exhibit chronic poikiloderma with hyper/hypopigmentation. They also have telangiectasia, spot-like skin atrophy, and cataracts. (Thoms et al. Experimental Dermatology 16:532–544, 2007). RTS is considered a rare disorder and its prevalence is unknown (Wang and Plon. GeneReviews. 2009).


Rothmund-Thomson Syndrome is an autosomal recessive disease caused by mutations in the RECQL4 gene. The RECQL4 gene encodes the protein ATP-dependent DNA helicase Q4, which functions in unwinding DNA for many biological processes (e.g. replication initiation) (Sangrithi et al. Cell 121:887–898, 2005). The majority of causative mutations result in premature protein truncation (Siitonen et al. Eur J Hum Genet 17:151–158, 2009; Wang and Plon. GeneReviews. 2009).

Clinical Sensitivity - Sequencing with CNV PGxome

Sequencing of RECQL4 will detect causative mutations in approximately 66% of Rothmund Thomson Syndrome cases. The other 34% may be due to genetic heterogeneity, although no other genes have yet been found. The frequency of RTS patients with deletions/duplications is unknown (Wang and Plon. GeneReviews. 2009).

Testing Strategy

This test provides full coverage of all coding exons of the RECQL4 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 who are suspected of Rothmund Thomson Syndrome, Baller-Gerold Syndrome or Rapadilino Syndrome. Individuals with a family history of these disorders and who want to know their carrier status of RECQL4 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in RECQL4. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.


Official Gene Symbol OMIM ID
RECQL4 603780
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Sangrithi et al. (2005). "Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome." Cell 121:887–98. PubMed ID: 15960976
  • Siitonen et al. (2009). "The mutation spectrum in RECQL4 diseases." Eur J Hum Genet 17:151–8. PubMed ID: 18716613
  • Thoms et al. (2007). "Lessons learned from DNA repair defective syndromes." Experimental Dermatology 16:532–544. PubMed ID: 17518994
  • Wang and Plon. (2009). "Rothmund-Thomson Syndrome." GeneReviews. PubMed ID: 20301415


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)

1) Select Test Type

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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