Telomere biology disorders (TBD) are a complex group of bone marrow failure syndromes characterized by abnormally short telomeres. The severity of these syndromes is variable, and they may present in children or adults. In addition to bone marrow failure, other symptoms of TBD include pulmonary fibrosis, liver disease, gastrointestinal disease, and mucocutaneous abnormalities.

Dyskeratosis congenita (DC), the prototypical TBD, is an inherited bone marrow failure syndrome caused by defects in the telomere maintenance pathway. Individuals with dyskeratosis congenita most commonly present with abnormal skin pigmentation, nail dystrophy, oral premalignant leukoplakia, bone marrow failure and cancer predisposition, specifically squamous cell carcinoma and hematolymphoid malignancies. Individuals typically present during early childhood, often with abnormal skin pigmentation and nail dystrophy. By the age of 30, most individuals have signs of bone marrow failure. DC can be inherited in X-linked, autosomal dominant, or autosomal recessive patterns. Genetic anticipation can also be observed, with children displaying clinical features at an earlier age and/or with a more severe presentation as compared to a parent harboring the same pathogenic variant. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.  

6 weeks
CPT Code 
Test Code 
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Cultured Cells
Extracted DNA
Additional Information 
If sending saliva, 2 kits are required.