Dyskeratosis Congenita (DC) via the TERC Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 9811 | TERC | 81479 | 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.
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. Approximately 80-90% 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. 2009. PubMed ID: 20301779).
Genetics
Dyskeratosis congenita is caused primarily from defects in telomere maintenance (Walne et al. 2007. PubMed ID: 17507419; Trahan et al. 2010. PubMed ID: 20008900). It is a disorder that is characterized by three genetic subtypes: X-linked recessive, caused by pathogenic variants in the DKC1 gene, autosomal dominant DC caused by heterozygous pathogenic variants in the TERC, TINF2 or TERT genes, and autosomal recessive DC which involves a wide variety of genes including ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, WRAP53 as well as TERT (Savage et al. 2009. PubMed ID: 20301779).
TERT encodes the protein component of telomerase with reverse transcriptase activity, while TERC encodes the RNA component of telomerase that is needed for telomere maintenance (Du et al. 2009. PubMed ID: 18931339). Heterozygous pathogenic variants in the TERC gene are causative for autosomal dominant dyskeratosis congenita (Vulliamy et al. 2004. PubMed ID: 15098033).
TERC encodes an RNA molecule of 451 bp, has one exon, and is located on chromosome 3q26.2.
Approximately 50 nucleotide changes and small deletions in the TERC gene have been reported as causative for disease (Savage et al. 2009. PubMed ID: 20301779).
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 (Savage et al. 2009. PubMed ID: 20301779). Analysis of data from The Royal London Hospital (London, UK) shows that pathogenic variants in both DKC1 and TERC account for approximately 36% of cases reported (about 30% DKC1 and 6% TERC) (Walne et al. 2007. PubMed ID: 17507419).
Testing Strategy
This test provides full coverage of the single exon of the TERC gene. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Candidates for this test are patients with symptoms consistent with autosomal dominant dyskeratosis congenita and the family members of patients who have known TERC variants.
Candidates for this test are patients with symptoms consistent with autosomal dominant dyskeratosis congenita and the family members of patients who have known TERC variants.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| TERC | 602322 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Dyskeratosis Congenita Autosomal Dominant | AD | 127550 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 | AD | 614743 |
Related Tests
| Name |
|---|
| Interstitial Lung Disease Panel |
| Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel |
Citations
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
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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ORDER OPTIONS
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2) Select Additional Test Options
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