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


Blood
Test performed by: LabPLUS VIM Molecular Diagnostics


Gene Panel testing: please refer to " Diagnostic Genetics Sendaway Service Information Page

 

Customised genetic test performed by: LabPLUS VIM Molecular immunology

This is a customised genetic testing service for primary immunodeficiency disorders and immune dysregulation disorders.

Please consult relevant clinical specialists (haematologist or clinical immunologist) or immunopathologists prior to ordering the test. 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. Testing fee will be charged according to the size of the gene.

Genetic counselling is recommended prior to blood collection so that implications of testing and informed consent can be discussed. In requesting this test referring clinician confirms that patient consent has been obtained for genetic testing and storage.

Download: ADHB Consent for Genetic Testing / DNA Storage - ADHB Consent Genetic Testing_DNA Storage.docx


Specimen Collection

Contact the laboratory for testing of other sample types.

Please send specimens to Dr. See-Tarn Woon, VIM.


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

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Turnaround Time: Between 2 weeks and 4 weeks

For urgent requests - contact:


Diagnostic Use and Interpretation

Test method: Customised primers are designed to target genes or regions of interest. Polymerase chain reaction is performed followed by DNA sequencing. Genetic variants are identified by aligning patient DNA sequence against reference sequence using propriety software. 

Diagnostic Use: This test is customised genetic testing for primary immunodeficiency disorders and immune dysregulation disorders. Please contact laboratory to discuss gene(s) of interest.

This test is useful for:

Test limitations:

The test limitations will vary depending on the analytical technique.

 


Contact Information

For further information please contact:

  The LabPLUS Immunology Team immunology@adhb.govt.nz or Dr. See-Tarn Woon, stwoon@adhb.govt.nz



Last updated at 16:53:47 06/03/2023