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Primary Immunodeficiency Disorders - customised genetic testing
Short Description : Primary Immunodeficiency Disorders/Molecular Immunology


Blood
Test performed by: LabPLUS VIM Molecular Diagnostics


This test should be ordered after consultation with a relevant clinical specialist (rheumatologist or clinical immunologist) and the specialist's name should be indicated on the request form.

All requests will be reviewed and approved by the Immunopathology group prior to the commencement of testing.

Please include clinical details or indicate prior discussion with an Immunopathologist on the request form

NOTE: In some instances risk can be clarified by genetic testing. Genetic testing is accompanied by genetic counselling so that the implications of testing can be discussed and consent taken prior to the blood sample being taken.

 

For urgent requests, please contact Associate Professor Rohan Ameratunga , Immunologist: Locator 93-5724.


Specimen Collection

Please send specimens at ambient temperature. They must reach the laboratory within 48 hours. 

Please address them to Dr. See-Tarn Woon, Department of Virology and Immunology


EDTA4 mL EDTA Whole Blood (Always Required)
EDTA2 mL Paediatric EDTA Whole Blood

For testing of other sample types please contact the laboratory prior to sending.


Turnaround Time: Between 2 weeks and 4 weeks
Diagnostic Use and Interpretation

The section provides customised genetic testing service for primary immunodeficiency disorders. Most patients referred to the service have genetic counselling before blood is drawn for testing.  Genomic DNA is isolated and polymerase chain reaction performed to amplify gene of interest, followed by DNA sequencing. The DNA sequences are then aligned with reference sequences using computer software to identify possible mutations. Over time, the scope of the service has broadened to include other genes with immune function. Fee will be charged according to the size of the gene.

 

All requests will be reviewed and approved by immunopathology group prior to commencement of testing.

 


Contact Information

For further information contact the laboratory (09) 307 4949 ext 22115 or:

Associate Professor Rohan Ameratunga , Immunopathologist: Locator 93-5724

Dr. See-Tarn Woon, stwoon@adhb.govt.nz

Or the LabPLUS Immunology Team .



Last updated at 14:47:19 05/11/2020