General: People with congenital insensitivity to pain with anhidrosis (CIPA) should receive a complete physical exam and provide a family history. During the patient interview, a clinician should focus on the patient's receptiveness to pain and history of injuries.
Biopsy: In a biopsy, a sample of tissue is removed from the body and the cells are examined in a laboratory. A biopsy from a person with CIPA may reveal decreased numbers of nerve fibers and a lack of sweat glands.
Genetic (DNA) testing: DNA tests may also be performed to confirm the presence of a mutated NTRK1 gene. Genetic testing is often performed to confirm the results of other tests.
Amniotic fluid (prenatal) genetic testing: CIPA may be diagnosed in a developing fetus using blood samples taken from the fetus. Diagnosis of CIPA may also be performed on a fetus through amniocentesis, in which the amniotic fluid surrounding the fetus is sampled through a needle. Genetic tests may be performed on blood or amniotic fluid. Because taking a blood sample may cause harm to a developing fetus, taking samples of amniotic fluid is generally preferred. It is important to note, however, that any prenatal test carries a risk of miscarriage.
Chorionic villus sampling (CVS): CVS is another type of prenatal diagnosis that can detect genetic problems in a fetus. Samples are taken from the chorionic villus, or placental tissue. It is important to note that any prenatal test carries a risk of miscarriage.
Pre-implantation genetic diagnosis (PGD): PGD is a new procedure that may be performed on embryos produced by in vitro (artificial) fertilization. This test allows parents to implant and bring to term only the embryos that do not carry the mutated genes that cause CIPA.
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