Study type: Blood collected in a royal blue–top, trace element–free tube; related body system: Circulatory/Hematopoietic and Digestive systems.

Copper is an important cofactor for the enzymes that participate in the formation of hemoglobin, melanin, and collagen. Copper is also a component of coagulation factor V and assists in the oxidation of glucose. It is required for melanin pigment formation and maintenance of myelin sheaths and is used to synthesize ceruloplasmin. Copper levels vary with intake. Levels vary diurnally and peak during morning hours. This mineral is absorbed in the stomach and duodenum, stored in the liver, and excreted in urine and in feces with bile salts. Copper deficiency results in neutropenia and a hypochromic, microcytic anemia that is not responsive to iron therapy. Other signs and symptoms of copper deficiency include osteoporosis, depigmentation of skin and hair, impaired immune system response, and possible neurological and cardiac abnormalities.

Knowledge of genetics assists in identifying those who may benefit from additional education, risk assessment, and counseling. Genetics is the study and identification of genes, genetic mutations, and inheritance. For example, genetics provides some insight into the likelihood of inheriting a medical condition such as Menkes disease (syndrome) or Wilson disease. Some conditions are the result of mutations involving a single gene, whereas other conditions may involve multiple genes and/or multiple chromosomes. Menkes disease is an example of a recessive sex-linked genetic disorder passed on from a mother to male children; approximately 30% of cases result from “new” mutations in the affected gene, which means those patients will not have a family history of the disease. Wilson disease is an example of an autosomal recessive disorder in which the offspring inherits a copy of the defective gene from each parent. Further information regarding inheritance of genes can be found in the study titled “Genetic Testing.”