PST Lithium heparin tubes are accepted - DO NOT SPIN
Routine cases: 2 8 days
Urgent cases: 5 days
Samples are cultured and processed for G-banded Karyotype analysis to identify numerical abnormalities and/or structural rearrangements, such as translocations, deletions, insertions and inversions.
The number of cells analysed and counted are based on the NPAAC guidelines.
Limitations: micro-deletions/duplications (below 5-8MB) and cryptic translocations may not be excluded.
Peripheral blood karyotype is used to provide information about constitutional chromosomal abnormalities.
Indications for testing may include the following:
- Infertility or
- Recurrent Pregnancy Loss (defined as three consecutive first trimester pregnancy losses)
- Neonates with dysmorphic features
- Genital abnormality, hypogonadism.
- Known familial chromosome abnormality
Clinical details are essential so that the degree of urgency can be assessed and appropriate cell cultures and analysis carried out. Suspicion of a particular syndrome or anomaly can be vital for guiding the analysis, especially when the anomaly being sought may be small.
Reference ID (e.g. NHI) of other family members should be provided, when relevant.
To contact the Cytogenetics team:
| Auckland City Hospital | (09) 307 4949 |
| Lablink | ext 22000 |
| Diagnostic Genetics General Enquiries | ext 22008 |
| Cytogenetics Office | ext 22012 |
All samples must be collected using sterile technique.
Same day delivery (8-24 degrees C)
For samples referred from overseas: the sample needs to be received by the laboratory within 3 days of collection and should be kept at 4 degrees C during transportation.