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. 2016 Dec 7;12:65.
doi: 10.1186/s13223-016-0169-2. eCollection 2016.

Comprehensive Genetic Testing for Primary Immunodeficiency Disorders in a Tertiary Hospital: 10-year Experience in Auckland, New Zealand

Free PMC article

Comprehensive Genetic Testing for Primary Immunodeficiency Disorders in a Tertiary Hospital: 10-year Experience in Auckland, New Zealand

See-Tarn Woon et al. Allergy Asthma Clin Immunol. .
Free PMC article


Background and purpose: New Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs).

Methods: Since 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014.

Results: We undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobulinemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity.

Conclusions: Thorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next generation sequencing will play an increasing role in disorders with locus heterogeneity.

Keywords: Genetic testing; Next generation sequencing; Primary immunodeficiencies.


Fig. 1
Fig. 1
a Number of gene tests requested annually (2005–2014), b Breakdown of different hospital services requesting genetic tests (2005–2014), c Paediatric and adult services of different specialities requesting genetic testing (2005–2014)

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