Single gene:
turnaround time is 10 working days.
Gene panel:
turnaround time is 4-6 weeks.
Autoinflammatory diseases are a group of rare disorders characterised by recurrent episodes of inflammation due to dysregulation of the innate immune system. There are 3 different gene testing approaches: (i) gene panel testing, (ii) single gene testing and (iii) whole exome sequencing/whole genome sequencing.
(i) Gene panel testing is a sendaway test by Diagnostic Genetics. Multiple genes will be sequenced using next generation sequencing (NGS). Please consult relevant clinical specialists (eg rheumatologist, immunologist or genetic services) prior to ordering the test and include the specialist's name on the request form.
Please refer to Diagnostic Genetics Sendaway Service Information Page in the LabPLUS test guide and download the Diagnostic Genetics sendaway form. Complete the sendaway form and send blood/saliva kit with the form to Diagnostic Genetics, LabPLUS.
Specimen collection: 4 mL EDTA whole blood (always required), 2 mL paediatric EDTA whole blood. Contact Diagnostic Genetics (DGen@adhb.govt.nz) to request a saliva kit.
Turnaround time: 4-6 weeks (including DNA extraction from blood and send DNA to overseas labs)
Please contact DGen@adhb.govt.nz for further information regarding gene panel testing.
(ii) single gene testing by Sanger sequencing is offered by VIM Molecular Immunology. Please consult relevant clinical specialists (rheumatologist or clinical immunologist) or immunopathologists prior to ordering the test. By ordering this test, requestors confirm that patient consent has been obtained for genetic testing and storage. Please include clinical details and the specialist's name on the request form. All requests will be reviewed and approved by the Immunopathology group prior to testing.
The following genes are offered for testing:
- MEFV - Familial Mediterranean Fever (FMF)
- TNFRSF1A - TNF receptor associated periodic syndrome (TRAPS)
- MVK - Hyperimmunoglobulin-D syndrome (Hyper-IgD syndrome), mevalonate kinase deficiency
- NLRP3 - Cryopyrin-associated periodic syndromes (CAPS), familial cold autoinflammatory syndrome (FCAS), neonatal onset multisystem inflammatory disease (NOMID, also known as CINCA)
- UBA1 - vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS)
For urgent requests,
contact:
-
Associate Professor Rohan Ameratunga,
-
Dr Richard Steele or
-
Immunology lab
registrar
via Lablink .
For further information
please
contact LabPLUS Immunology Team (
immunology@adhb.govt.nz
) or See-Tarn Woon (
stwoon@adhb.govt.nz
)