RepeatDx, Author at RepeatDx

Repeat Diagnostics’ 6-Panel telomere assay, is the diagnostic test of choice in identifying patients with Dyskeratosis Congenita (DC), an inherited bone marrow failure syndrome. Physicians from seven institutions including NCI and NIH reported that the QPCR relative measurement lacked sensitivity and would lead to misdiagnosis of 60% of known DC patients. Read more

RepeatDx is the leading clinical laboratory for telomere length testing.

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Author: RepeatDx

Response to androgen therapy in patients with dyskeratosis congenita. Khincha PP, Wentzensen IM, Giri N, Alter BP, Savage SA. Br J Haematol. 2014 May;165(3):349-57

Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Williams DA, Bennett C, Bertuch A, Bessler M, et al. Pediatr Blood Cancer. 2014 May;61(5):869-74

6-panel TLM Assay Diagnostic Test of Choice in Identifying Ppatients with Dyskeratosis Congenita

Paroxysmal nocturnal haemoglobinuria phenotype cells and leucocyte subset telomere length in childhood acquired aplastic anaemia. Tutelman PR, Aubert G, Milner RA, Dalal BI, Schultz KR, Deyell RJ. Br J Haematol. 2014 Mar;164(5):717-21

Gender and telomere length: systematic review and meta-analysis. Gardner M, Bann D, Wiley L, Cooper R, et al. Exp Gerontol. 2014 Mar;51:15-27

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Ballew,B.J. et al. Hum Genet 132:473–480 (2013)

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. Parry, E.M. et al. J Med Genet. (2011)

TINF2, a Component of the Shelterin Telomere Protection Complex, is Mutated in Dyskeratosis Congenita. Savage S.S.,Giri N, Baerlocher, G.M., Orr, N., Lansdorp P.M., and Alter, B.P. . J.Hum. Gen. 82(2): 501-9 (2008)

Telomerase mutations in families with idiopathic pulmonary fibrosis. Armanios, M. Y. et al. Engl J Med 356, 1317-26 (2007)

Very short telomere length by flow FISH identifies patients with Dyskeratosis Congenita. Alter,B. P. et al. Blood (2007)