Decoding the Human Genome for Better Diagnosis and Care.

• The Diagnostic Genetics department provides a comprehensive genetic service for both inherited and acquired genetic disorders.
• The department uses a wide range of techniques and technologies to identify genetic changes from whole chromosome abnormalities to single nucleotide changes.
• Our portfolio of tests is frequently upgraded to enhance our testing methods to take into account developments in International best practice, technology changes and updated approaches to the interpretation of results.
• Diagnostic Genetics analyses prenatal, post-natal and malignancy samples.
• We perform investigations to provide diagnostic, predictive, prenatal and prognostic information to guide treatment and management of genetic conditions.
  

The following criteria must be met for a request to be processed. Requests that do not meet these requirements, will not proceed to testing and will instead be issued with a notification report.

The following information is mandatory in accordance with Te Toka Tumai Specimen Labelling and Collection Policy :

1. Critical Patient identifiers
   1. First (or known preferred name) and surname are mandatory, plus NHI, and date of birth if NHI is not given.
   2. If all three identifiers are provided, all three must match.
2. Request form requirements
   1. Referring clinicians details clear
   2. Tests required are clearly identified
   3. Clinical details are included
3. Special test requirements:
   1. For familial testing , the identity of the proband (at least 2 identifiers required) and details of the gene and variant to be tested.
   2. Relevant mandatory paperwork must accompany specific test requests
      1. For all Monogenic Diabetes Referrals, a completed Monogenic Diabetes Molecular Genetics Test Form is required.
      2. For DNA extraction and storage for Post Mortem specimens, a completed SD1 Form is required.
   3. Send away test requests
      1. A completed Diagnostic Genetic Sendaway form is required. The form can be downloaded in the LabPlus Test Guide .
      2. The external referral laboratory should be specified. If not specified, the laboratory will forward the sample to the default first-choice provider as listed in the LabPlus Test Guide .
4. Email Referral requirements
   1. The patients specimen must arrive within 1 week if there is no stored DNA in the lab. If the sample does not arrive within one week, a No Sample Received notification report will be issued.

Linkages with colleagues in diagnostic and research centres nationally and internationally enable Diagnostic Genetics to be connected to the best technologies and approaches to improve patient care.

For more detailed information on our genetic services please see:

Cytogenetics

Molecular Genetics

Molecular Haematology

Download: - Diagnostic Genetics Brochure.pdf

You may also be interested in viewing our website:

Diagnostic Genetics Website