What is HLA typing for narcolepsy?
By far major genetic susceptibility determinants of narcolepsy, as in other autoimmune disorders, are found within the HLA region. Among HLA class II genes, the DRB1*15:01-DQA1*01:02-DQB1*06:02 is the disease-associated haplotype in narcolepsy.
How is narcolepsy diagnosed with cataplexy?
Type 1 narcolepsy (previously termed narcolepsy with cataplexy). This diagnosis is based on the individual either having low levels of a brain hormone (hypocretin) or reporting cataplexy and having excessive daytime sleepiness on a special nap test.
How do you test for cataplexy?
Diagnosing cataplexy can be a challenge. There isn’t a specific test to detect cataplexy, although it has been suggested that video recordings of episodes may be a helpful tool9. Cataplexy is usually diagnosed based on an interview with patients and their families10.
Is there a genetic marker for narcolepsy?
Most people with narcolepsy have the HLA-DQB1*06:02 variation, and many also have specific versions of other, closely related HLA genes. It is unclear how these genetic changes influence the risk of developing the condition. Variations in several additional genes have also been associated with narcolepsy.
Is cataplexy a symptom of narcolepsy?
Sometimes, narcolepsy can be accompanied by a sudden loss of muscle tone (cataplexy), which can be triggered by strong emotion. Narcolepsy that occurs with cataplexy is called type 1 narcolepsy.
Is HLA-DQB1 *15 a risk factor for narcolepsy?
Recent studies indicate HLA-DRB1 *15 is not associated with narcolepsy. Mutations Tested: HLA-DQB1 *06:02 allele. Clinical Sensitivity: 85-95 percent depending on ethnicity.
Is there a genetic test for narcolepsy?
Other genetic and non-genetic factors that influence narcolepsy are not evaluated. This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration.
What are the characteristics of narcolepsy?
Background Information for Narcolepsy (HLA-DQB1*06:02) Genotyping: Characteristics: Narcolepsy is a sleep disorder associated with invalidating excessive daytime sleepiness and cataplexy (the sudden loss of muscle tone triggered by strong emotions).
What is narcolepsy may?
May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results. Characteristics: Narcolepsy is a sleep disorder associated with invalidating excessive daytime sleepiness and cataplexy (the sudden loss of muscle tone triggered by strong emotions).