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Dyskeratosis Congenita (DC) via the RTEL1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
RTEL1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7809RTEL181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Dyskeratosis congenita (DC) is a disease characterized by multiple anomalies including abnormal skin pigmentation, nail dystrophy, mucosal leukoplakia, bone marrow failure and an increase in cancer predisposition (Walne et al. 2007. PubMed ID: 17507419; Kirwan et al. 2008. PubMed ID: 18005359). Individuals affected with DC can exhibit other features including liver cirrhosis, osteoporosis, pulmonary fibrosis and learning difficulties (Dvorak et al. 2015. PubMed ID: 25455995). Approximately 80-90% of individuals affected with DC experience bone marrow failure by age 30 (Kirwan et al. 2008. PubMed ID: 18005359). Age of onset and progression of DC may vary. Those who have minimal physical findings with normal bone marrow function are at the mild end of the spectrum, while those at the severe end of the spectrum have these features along with bone marrow failure (Savage et al. 2016. PubMed ID: 20301779).


Dyskeratosis congenita is caused primarily by defects in telomere maintenance (Walne et al. 2007. PubMed ID: 17507419; Trahan et al. 2010. PubMed ID: 20008900). DC is characterized by three genetic subtypes: X-linked recessive, caused by variants in the DKC1 gene, autosomal dominant DC caused by heterozygous variants in TERC, TINF2 or TERT genes, and autosomal recessive DC which involves several genes including ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, WRAP53 and TERT (Savage et al. 20016. PubMed ID: 20301779).

RTEL1 encodes a DNA helicase that functions in the stability, elongation and protection of telomeres (Uringa et al. 2012. PubMed ID: 22593209). It has been shown that RTEL1 pathogenic variants can account for both autosomal dominant and autosomal recessive dyskeratosis congenita (Ballew et al. 2013. PubMed ID: 23329068). One study showed that 7 out of 23 cases with RTEL1 variants segregated in an autosomal recessive manner (Walne et al. 2013. PubMed ID: 23453664). Another study examined 3 families and 2 out of 3 showed an autosomal dominant pattern of inheritance, with the third exhibiting a compound heterozygous state (Ballew et al. 2013. PubMed ID: 23329068). It is difficult to determine which mode of inheritance for DC is more commonly associated with RTEL1 pathogenic variants. Individuals with autosomal dominant heterozygous pathogenic variants in RTEL1 may develop clinical features of DC at later ages (Savage et al. 2016. PubMed ID: 20301779). Biallelic pathogenic variants in RTEL1 have been identified in individuals with the severe DC subtype, Hoyeraal Hreidarsson syndrome (Ballew et al. 2013. PubMed ID: 23329068; Walne et al. 2013. PubMed ID: 23453664).

Pathogenic variants, mostly missense, in RTEL1 have also been reported in cases of pulmonary fibrosis (Petrovski et al. 2017. PubMed ID: 28099038).

To date, pathogenic variants reported in the RTEL1 gene include missense, splicing, nonsense and frameshift deletions (Human Gene Mutation Database). A founder variant in RTEL1, known most commonly as c.3791G>A; p.Arg1264His (a.k.a c.3724+139G>A, NM_032957.4) with a carrier frequency of 0.4%-1% has been identified in individuals of Ashkenazi Jewish ancestry (Fedick et al. 2014. PubMed ID: 25047097).

Clinical Sensitivity - Sequencing with CNV PG-Select

Approximately 70% of individuals with dyskeratosis congenita (DC) have pathogenic variants in at least 1 of the 11 known DC genes. Pathogenic variants in RTEL1 account for 2-8% of DC cases (Savage et al. 20016. PubMed ID: 20301779).

Testing Strategy

This test provides full coverage of all coding exons of the RTEL1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with Dyskeratosis Congenita or Hoyeraal-Hreidarsson syndrome. Additionally, targeted analysis for RTEL1 pathogenic variants can be performed in individuals of Ashkenazi Jewish ancestry who are suspected to have DC. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in RTEL1.


Official Gene Symbol OMIM ID
RTEL1 608833
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Interstitial Lung Disease Panel


  • Ballew et al. 2013. PubMed ID: 23329068
  • Dvorak et al. 2015. PubMed ID: 25455995
  • Fedick et al. 2014. PubMed ID: 25047097
  • Human Gene Mutation Database (Bio-base).
  • Kirwan et al. 2008. PubMed ID: 18005359
  • Petrovski et al. 2017. PubMed ID: 28099038
  • Savage et al. 2016. PubMed ID: 20301779
  • Trahan et al. 2010. PubMed ID: 20008900
  • Uringa et al. 2012. PubMed ID: 22593209
  • Walne et al. 2007. PubMed ID: 17507419
  • Walne et al. 2013. PubMed ID: 23453664


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

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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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