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Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada

Cadham Provincial Laboratory, Winnipeg, MB R3E 3J7, Canada
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, 546-715 McDermot Ave, Winnipeg, MB R3E 3R4, Canada
CancerCare Manitoba, Winnipeg, MB R3E 0V9, Canada
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2018, 4(2), 19;
Received: 2 May 2018 / Revised: 11 June 2018 / Accepted: 11 June 2018 / Published: 19 June 2018
The incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites (ZAP70 founder mutation) and First Nations of Northern Cree ancestry (IKBKB founder mutation). We have previously demonstrated that in these two populations the most widely utilized T-cell receptor excision circle (TREC) assay is an ineffective newborn screening test to detect SCID as these patients have normal numbers of mature T-cells. We have developed a semi-automated, closed tube, high resolution DNA melting procedure to simultaneously genotype both of these mutations from the same newborn blood spot DNA extract used for the TREC assay. Parallel analysis of all newborn screening specimens utilizing both TREC analysis and the high-resolution DNA procedure should provide as complete ascertainment as possible of SCID in the Manitoba population. View Full-Text
Keywords: newborn screening; SCID; TREC newborn screening; SCID; TREC
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Thompson, J.R.; Greenberg, C.R.; Dick, A.; Jilkina, O.; Kwan, L.; Rubin, T.S.; Zelinski, T.; Schroeder, M.L.; Van Caeseele, P. Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada. Int. J. Neonatal Screen. 2018, 4, 19.

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