How are lipid disorders diagnosed?

Diagnosis is made through clinical examination, biopsy, genetic testing, molecular analysis of cells or tissue to identify inherited metabolic disorders, and enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency). In some forms of the disorder, a urine analysis can identify the presence of stored material. Some tests can also determine if a person carries the defective gene that can be passed on to her or his children. This process is known as genotyping.

Biopsy for lipid storage disease involves removing a small sample of the liver or other tissue and studying it under a microscope. In this procedure, a physician administers a local anesthetic and then removes a small piece of the tissue either surgically or by needle biopsy (a small piece of tissue is removed by inserting a thin, hollow needle through the skin). The biopsy is usually performed at an outpatient testing facility.

Genetic testing can help individuals who have a family history of lipid storage disease determine if they are carrying a mutated gene that causes the disorder. Other genetic tests can determine if a fetus has the disorder or is a carrier of the defective gene. Prenatal testing is usually done by chorionic villus sampling, in which a small sample of the placenta is removed and tested during early pregnancy. The sample, which contains the same DNA as the fetus, is removed by a catheter or a fine needle inserted through the cervix or by a fine needle inserted through the abdomen. Results are usually available within two weeks.

This answer is based on source information from the National Institute of Neurological Disorders and Stroke.