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Test Code ORXNA Orexin-A/Hypocretin-1, Spinal Fluid


Ordering Guidance


Orexin-A (hypocretin-1) deficiency is the hallmark of narcolepsy type 1. The diagnostic criteria for type 1 narcolepsy include the presence of cataplexy and/or measured cerebrospinal fluid orexin-A/hypocretin-1 concentrations less than or equal to 110 pg/mL. Alternative testing for narcolepsy type 1 includes mean latency of 8 minutes in the clinical multiple sleep latency test, with evidence of sleep-onset rapid eye movement periods and cataplexy.



Specimen Required


Patient Preparation: Patient should not have recently received radioisotopes, either therapeutically or diagnostically, due to potential assay interference.

Collection Container/Tube: Sterile vial

Submission Container/Tube: Plain vial with no additives

Specimen Volume: 1.5 mL

Pediatric Volume: 0.5 mL

Collection Instructions:

1. Obtain aliquot from second collection vial (preferred, not required).

2. Hemolyzed specimens will give false-positive results. Specimens should be centrifuged to remove any red cells prior to shipping.


Useful For

Aiding in the diagnosis and differentiation of type 1 narcolepsy from other causes of hypersomnolence

 

This assay is not intended for use as a screening test.

Reporting Name

Orexin-A/Hypocretin-1, CSF

Specimen Type

CSF

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
CSF Frozen (preferred) 120 days
  Refrigerated  7 days
  Ambient  72 hours

Reject Due To

Gross hemolysis Reject

Reference Values

Normal individuals: >200 pg/mL

 

Previous literature has defined cerebrospinal fluid orexin-A/hypocretin-1 concentrations of 110 pg/mL or below as being consistent with narcolepsy type 1-(Mignot E. Arch Neurol. 2002:59;1553-1562). Concentrations between 111 pg/mL and 200 pg/mL are considered intermediate and have limited diagnostic utility for narcolepsy, as they may be representative of other neurological disorders. Concentrations above 200 pg/mL are considered normal.

Supportive Data

In an in-house Mayo Clinic study utilizing this assay on cerebrospinal fluid (CSF) from 100 individuals without type 1 narcolepsy, all samples (100%) exhibited orexin (hypocretin-1) concentrations higher than the 200 pg/mL normal threshold (mean value of 531pg/mL + or - 89). Additionally, all 6 out of 6 patients with confirmed type 1 narcolepsy had measured CSF concentrations below 110 ng/mL by this assay (mean value of <50 pg/mL).

Day(s) Performed

Twice monthly (Second and fourth Monday)

Report Available

3 to 32 days

Specimen Retention Time

90 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83519

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ORXNA Orexin-A/Hypocretin-1, CSF 91670-0

 

Result ID Test Result Name Result LOINC Value
604230 Orexin-A/Hypocretin-1, CSF 91670-0

Forms

If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.