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Dyskeratosis Congenita (DKC)
DKC1 (dyskerin)
hTR (TERC) (telomerase RNA component)
In patients with the X-linked form of DKC1, using genomic DNA obtained from buccal (cheek) swabs, each of the 15 DKC1 exons is screened by bi-directional sequence analysis. In patients with the autosomal dominant form, bi-directional sequence of exon 1 (the entire coding region) of the hTR (TERC) gene is evaluated. Mutations in the DKC1 gene are mostly missense, although splice site mutations, a large deletion, and a promoter mutation have been reported in rare patients. Reported mutations in the TERC gene include a large deletion, single base changes, a small deletion, and a missense mutation. In one study of affected males from 25 families, mutation in the DKC1 gene was identified in 40% of independent families. Mutation in the TERC gene has been reported in 2 of 17 patients with idiopathic aplastic anemia and 3 of 27 with constitutional aplastic anemia and in several families with autosomal dominant inheritance of the disease. Large deletions of the DKC1 gene may be missed using sequence analysis in carrier females, and may also be missed in the TERC gene.
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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