Telomere Disorders Gene Panel
GTR Test Accession: Help GTR000607887.2
Last updated in GTR: 2024-04-24
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Telomere syndrome; Aplastic anemia; Autosomal recessive dyskeratosis congenita 4; ...
ACD (16q22.1), CTC1 (17p13.1), DKC1 (Xq28), LIG4 (13q33.3), NAF1 (4q32.2), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Individuals with a personal or family history suggestive of a …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Elyse Love, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 30
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 18
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NovaSeq 6000
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NovaSeq 6000
Clinical Information
Test purpose: Help
Clinical utility: Help
Establish or confirm diagnosis
View citations (6)
  • Podlevsky JD, Bley CJ, Omana RV, Qi X, Chen JJ. The telomerase database. Nucleic Acids Res. 2008;36(Database issue):D339-43. doi:10.1093/nar/gkm700. Epub 2007 Dec 11. PMID: 18073191.
  • Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood. 2018;131(7):717-732. doi:10.1182/blood-2017-09-806489. Epub 2017 Nov 16. PMID: 29146883.
  • Comparison of telomere length measurement methods. Lai TP, et al. Philos Trans R Soc Lond B Biol Sci. 2018;373(1741). doi:10.1098/rstb.2016.0451. PMID: 29335378.
  • Niewisch MR, Savage SA. An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2019;12(12):1037-1052. doi:10.1080/17474086.2019.1662720. Epub 2019 Sep 10. PMID: 31478401.
  • Grill S, Nandakumar J. Molecular mechanisms of telomere biology disorders. J Biol Chem. 2021;296:100064. doi:10.1074/jbc.REV120.014017. Epub 2020 Nov 22. PMID: 33482595.
  • Armanios M. The Role of Telomeres in Human Disease. Annu Rev Genomics Hum Genet. 2022;23:363-381. doi:10.1146/annurev-genom-010422-091101. Epub 2022 Jun 24. PMID: 35609925.

Target population: Help
Individuals with a personal or family history suggestive of a telomere biology disorder.
View citations (1)
  • Armanios M. The Role of Telomeres in Human Disease. Annu Rev Genomics Hum Genet. 2022;23:363-381. doi:10.1146/annurev-genom-010422-091101. Epub 2022 Jun 24. PMID: 35609925.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions/insertions (delins) less than 40 base pairs (bp), and above 95% for deletions up to 75 bp and insertions up to 47 bp.
Assay limitations: Help
Clinical Correlations: Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete. If testing was performed because of a clinically significant family history, it is often useful to first test … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Platform PT performed
Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, SpliceAI, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel alterations and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.