Specimen Collection

Blood spotted on to blood collection cards or 1-2 ml of blood in EDTA (purple top)

Turnaround Time: Within 1 week
Assay Method

This hydrolysis probe genotyping assay is performed on Roche LightCycler 480.

Diagnostic Use and Interpretation

IFNAR1 deficiency and susceptibility to life-threatening viral infections

Consider testing for IFNAR1 deficiency (IFNAR1 genotyping assay) in:

• A patient whose biological parents report Pacific and/or Maori ancestry.

AND

• A patient who:

a. Has or has had one or more life-threatening viral infection(s) needing intensive care unit (ICU) or high dependency unit (HDU)-level care or a fatal viral infection, or

b. Has or has had two or more severe viral infections needing hospitalisation, or

c. Has a family history of an immediate family member (e.g. full siblings) having/having had severe, life-threatening or fatal viral infections, or having IFNAR1 deficiency due to homozygosity for (having two copies of) IFNAR1 p.Glu386* variant.

• Information about IFNAR1 deficiency available on Te Whatu Ora website

https://www.tewhatuora.govt.nz/health-services-and-programmes/vaccine-information/ifnar1-deficiency/

• Requesting an IFNAR1 genotyping test requires the Test Request form (link below) and the GHSNZ blood and consent form (pdf below),

IFNAR1 p.Glu386* Genotyping Test Request Form

Download: GHSNZ blood and consent form - GHSNZ-blood-and-consent-form.pdf

Contact Information

For urgent requests, contact our team via Lablink:
Internal calls ext 22000 or 0800 522 7587

• Immunology lab registrar
• Associate Professor Rohan Ameratunga (Immunopathologist)
• Dr Maia Brewerton (Immunopathologist)
• Dr Hilary Longhurst (Immunologist)

For further information please contact LabPLUS Immunology Team ( immunology@adhb.govt.nz ) or See-Tarn Woon ( stwoon@adhb.govt.nz )

Specimen Transport Instructions for Referring Laboratories

Option 1: blood collection cards

1. Use blood to completely fill 2 or 3 circles on a dried blood spot (DBS) card. Allow the blood spots to air dry completely - this may take several hours.
2. Label the card with the patient's name, date of birth and date of sample.
3. Send by post or regular mail, the completely dry DBS card and a completed copy of the request form to the following address :
   Dr See-Tarn Woon
   Dept of Immunology and Microbiology
   Building 31, LabPLUS
   Auckland City Hospital
   Auckland 1023

Option 2: send EDTA blood at ambient temperature. Do not send extracted DNA .

Last updated at 09:01:09 25/10/2024