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Dyskeratosis Congenita (DC)
DKC1 (dyskerin)
TINF2 (TRF1-Interacting Nuclear Factor 2)
TERC (hTR, human telomerase RNA component)
Dyskeratosis congenita is a bone marrow failure syndrome that is typically associated with a triad of clinical features: nail dystrophy, oral leukoplakia and abnormal skin pigmentation. Other clinical features may be present that affect the dental, gastrointestinal, neurological, ophthalmologic, pulmonary and skeletal systems.
Most patients with DC are males with mutations in the X-linked DKC1 gene, which is rarely involved in affected females. About 1/3 of sporadic cases and 2/3 of families with more than one affected male have DKC1 mutations.1 Another 11% of sporadic cases of DC (male and female) can be attributed to mutations in exon 6 of the TINF2 gene. Individuals with TINF2 mutations often display a more severe form of the disease. A small percent of males and females with DC have a mutation in the TERC gene. Other genes (TERT, NOP10 and NHP2) are responsible for a rare number of cases.
For both DKC1 and TERC, sequencing can detect an estimated 95% of cases with typical mutations, including any deletions of DKC1 exons in males. ExonArrayDx deletion/duplication testing is available as an added test in DKC1 (for females) and in TERC (for males and females) although the added sensitivity is not known. All known mutations in TINF2 have been identified in exon 6, and are expected to be detected by sequence analysis. For more details see the linked Information Sheet below.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Dyskeratosis congenita, DKC, DKC1, DC, telomerase, bone marrow, bone marrow failure, marrow failure, marrow transplant, TERC, hTR, aplastic anemia
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