Genetic Testing for Lactase Insufficiency
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PLEASE NOTE: Contracts exclude from coverage, among other things, services or procedures that are considered investigational or cosmetic. Providers may bill members for services or procedures that are considered investigational or cosmetic. Providers are encouraged to inform members before rendering such services that the members are likely to be financially responsible for the cost of these services.
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Genetic Testing for Lactase Insufficiency
Background/Overview Genetic testing of adults with suspected lactase insufficiency is proposed as an alternative to current diagnostic practices. Studies have demonstrated a tight correlation between a single nucleotide polymorphism (SNP) -13910 C > T upstream of the gene coding for the enzyme lactase and lactase insufficiency in persons of European ancestry. Currently, two indirect tests of la...
متن کاملGenetic Testing for Lactase Insufficiency
PLEASE NOTE: Contracts exclude from coverage, among other things, services or procedures that are considered investigational or cosmetic. Providers may bill members for services or procedures that are considered investigational or cosmetic. Providers are encouraged to inform members before rendering such services that the members are likely to be financially responsible for the cost of these se...
متن کاملA novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
BACKGROUND Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe. CASE PRESENTATION After an uneventful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with wa...
متن کاملEvaluation of a Genetic Test for Diagnose of Primary Hypolactasia in Northeast of Iran (Khorasan)
Objective(s) Primary or adult type hypolactasia, the most common enzyme deficiency in the world, is due to reduced lactase activity in the intestinal cell after weaning. Lactase non-persistence is inherited as an autosomal recessive trait. A DNA variant, single nucleotide polymorphism C/T−13910 which is located on 13910 base pairs (bp) upstream of the lactase gene (LCT) at chromosome 2 has been...
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Purpose: Several causes for primary ovarian insufficiency have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. Given the large number of genes described in the literature so far, the aim of this review was to collect all the genetic mutations associated with non-syndromic primary ovarian insufficiency. Methods: All...
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