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Dyskeratosis Congenita (DKC)

  • DKC1 (dyskerin)
  • TERC (hTR, human telomerase RNA component)
Most patients with Dyskeratosis Congenita are males with mutations in the DKC1 gene. About 1/3 of sporadic cases and 2/3 of families with more than one affected male have DKC1 mutations. A small percent of males and females have TERC mutations. Other genes (TERT, TINF2) are responsible for an unknown 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. For more details see the linked Information Sheet below.

Information Sheet, including prices and CPT codes Back to the List
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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