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Congenital insensitivity to pain with anhidrosis (CIPA)
NTRK1, Neurotrophic tyrosine kinase receptor, type 1
Congenital insensitivity to pain with anhidrosis is a rare type of hereditary sensory and autonomic neuropathy (HSAN type IV). Characteristic features are indifference to painful stimuli and self-mutilating behavior, anhidrosis (inability to sweat), corneal ulcers, and sometimes mental retardation. The patients' inability to sweat usually leads to recurrent episodes of unexplained fever and can be fatal due to hyperthermia, especially in infants and small children. Most patients (>98%) have autosomal recessive mutations in the NTRK1 gene on chromosome 1q21-q22, which hinder proper binding of nerve growth factor to this tyrosine kinase receptor, thus leading to reduced survival of nerve growth factor-dependent nerve cells.
In CIPA, mutations of NTRK1 are identified by complete sequence analysis of the entire coding region of the gene (17 exons). Analysis is performed using DNA obtained from a blood sample in EDTA (1-5 mL) or buccal brushes (GeneDx kits only). Carrier testing of relatives and prenatal diagnosis in at-risk pregnancies is available once the mutation(s) in a family have been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
NTRK1, CIPA, pain, fever, neuropathy, HSAN, IV, sweat, anhidrosis, congenital insensitivity to pain with anhidrosis
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