The telomere biology disorders (TBDs) are a set of complex diseases related to aberrant telomere biology. Genetic defects in telomeres and telomere repair appear in multiple human diseases including constitutional marrow failure as dyskeratosis congenital (DC), some apparently acquired aplastic anemia, myelodysplasia and acute myeloid leukemia; pulmonary fibrosis; and hepatic nodular regenerative hyperplasia and cirrhosis. Dyskeratosis congenita (DC) is a highly heterogeneous disorder characterized by abnormal skin pigmentation, nail dystrophy and oral leukoplakia (mucosal keratosis appearing as white patches in the oral cavity). This classic triad of findings is present in 80-90% of affected individuals. Bone marrow failure is present in approximately 85% of cases. Other disease manifestations can include epiphora (excessive tear production), intellectual disability, pulmonary fibrosis, abnormal pulmonary vasculature, tooth loss or decay, premature hair loss or greying, liver disease, osteoporosis, and deafness. Dyskeratosis congenita is commonly associated with shortened telomeres. Anticipation may be observed in affected families, and is thought to be due to the inheritance of shortened telomeres from an affected parent. DC can be inherited in either an autosomal dominant, autosomal recessive or X-linked manner, depending on the causative gene.
Our Comprehensive Telomere Biology Disorder / Dyskeratosis Congenita Panel includes sequence and deletion/duplication analysis of the following 10 genes: C16orf57, CTC1, DKC1, NOLA3, NHP2, RTEL1, TERC, TERT, WRAP53, TINF2.
NOTE: Blood samples are accepted for patients with suspected dyskeratosis congenita only if there is no history of hematologic malignancies or MDS. Cultured skin fibroblasts is the recommended specimen type for patients with a history of MDS/leukemia (2 T-25 flasks). Please contact the laboratory for more information about specimen requirements.
Please use our Hereditary Cancer Requisition Form to order this test.
Any gene in the Comprehensive Telomere Biology Disorder / Dyskeratosis Congenita Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.