Test Catalog

Test ID: TELGP    
Telomere Defects Gene Panel

Useful For Suggests clinical disorders or settings where the test may be helpful

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of telomeropathies


Establishing a diagnosis of a telomeropathy, in some cases, allowing for appropriate management and surveillance for disease features


Identifying pathogenic variants within genes known to be associated with increased risk for telomere defects allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for the genes listed on the panel.


This test uses next-generation sequencing to test for variants in the CTC1, DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2, USB1 (C16ORF57), and WRAP53 (TCAB1) genes.


Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesNo
CRYOBCryopreserve for Biochem StudiesNoNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Telomere Defects Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

Aplastic anemia
Acute myeloid leukemia
Cerebroretinal microangiopathy with calcifications and cysts
Cutaneous malignant melanoma
Dyskeratosis congenita
Poikiloderma with neutropenia
Revesz syndrome
Primary Immunodeficiency