Carrier testing for autosomal-recessive disorders

Critical Reviews in Clinical Laboratory Sciences
Hilary Vallance, J Ford


The aim of carrier testing is to identify carrier couples at risk of having offspring with a serious genetic (autosomal recessive) disorder. Carrier couples are offered genetic consultation where their reproductive options, including prenatal diagnosis, are explained. The Ashkenazi Jewish population is at increased risk for several recessively inherited disorders (Tay-Sachs disease, Cystic fibrosis, Canavan disease, Gaucher disease, Familial Dysautonomia, Niemann-Pick disease, Fanconi anemia, and Bloom syndrome). Unlike Tay-Sachs disease, there is no simple biochemical or enzymatic test to detect carriers for these other disorders. However, with the rapid identification of disease-causing genes in recent years, DNA-based assays are increasingly available for carrier detection. Approximately 5% of the world's population carries a mutation affecting the globin chains of the hemoglobin molecule. Among the most common of these disorders are the thalassemias. The global birth rate of affected infants is at least 2 per 1000 (in unscreened populations), with the greatest incidence in Southeast Asian, Indian, Mediterranean, and Middle Eastern ethnic groups. Carriers are detected by evaluation of red cell indices and morphology, followe...Continue Reading


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Related Concepts

Bloom Syndrome
Pulmonary Cystic Fibrosis
Dysautonomia, Familial
Fanconi Anemia
Gaucher Disease, Type 3 (Disorder)
Conditions, Recessive Genetic
Genetic Screening Method
Heterozygote Detection
Niemann-Pick Diseases
Hexosaminidase alpha-Subunit Deficiency (Variant B)

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