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Philip Asquith |
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For prenatal specimen requirements see the laboratory handbook. When
sending prenatal specimens please inform the laboratory either by
telephone or email
If you
require a request form please contact Alice George at the laboratory, or
for urgent cases please download and print the online
request form.
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advanced maternal age (i.e. women over 35 years) |
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positive maternal serum screening test (MSS) |
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ultrasound scan showing abnormality |
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family history of a genetic condition |
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The typical culture time for an amniotic fluid or chorionic villus
specimen is between 7 and 18 days. Foetal blood results are available in
approximately 5 days. All prenatal results will telephoned to the
referring lead maternity care giver. Please ensure that this telephone
number is on the referral form. |
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Above is an example of a prenatal karyotype. It shows a male with
trisomy 21. Note the three number 21 chromosomes.
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AFP TEST
The α-fetoprotein (AFP) value in amniotic
fluid before 23 weeks gestation gives an indication of whether or not a
neural tube defect is present. Please tick the appropriate box on the
referral form if this additional test is required. This test can not be
performed on chorionic villus or foetal blood specimens.
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PRENATAL FISH AND OTHER TESTS
Rapid detection of aneuploidy by FISH
on uncultured amniocytes is offered as a screening test with results
available in two working days. For more information see the
Aneuscreen leaflet.
Other FISH
or molecular
tests for specific genetic conditions can be performed on prenatal
specimens as required, please alert the laboratory on the request form
if an additional test is required.
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PRODUCTS OF CONCEPTION
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Karen
Sheath Technical Specialist |
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Cytogenetics is performed on products of conception after 3
miscarriages or where a chromosome abnormality is suspected.
The typical culture time for products of conception specimens is
between 10 and 20 days.
In some cases where the specimen can not be grown in culture,
FISH
may be performed on fixed villus or paraffin embedded sections.
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SKIN
SPECIMENS |
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Prenatal skin
specimens and those from live born babies, children and adults are
accepted in the following cases:
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Mosaicism studies
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A variety of molecular and metabolic tests either performed at
LabPlus or in another laboratory. The cytogenetics department will
prepare the specimen for sending to the appropriate laboratory.
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Storage in liquid nitrogen for future testing.
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The typical culture time for skin specimens is between 14 and 20
days. For more information about suitable sample collection and
transport to the laboratory see the
laboratory handbook.
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Karen
Claxton |
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For blood specimen requirements see the
laboratory handbook.
Postnatal constitutional cytogenetics is performed
on blood and skin specimens. For information about skin specimens see the
prenatal section on skin specimens.
Blood analysis is performed
in the following cases: |
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Infertility or multiple miscarriage
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Stillbirth (where clinical indicators are
present)
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Babies with multiple malformation with or without
gross neurological dysfunction
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Children with an unusual appearance who are
developmentally delayed or intellectually impaired, especially if there
are co-existing congenital faults.
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Children with speech delay, behavioural problems,
isolated intellectual impairment
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Genital abnormality, hypogonadism
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Above is an example of a blood karyotype. It
shows a male with a balanced translocation between the short arm (top)
of one chromosome 6 and the long arm (bottom) of one chromosome 11 (see
arrows). Balanced translocations occur in
approximately 0.2% of the population. They are not usually associated
with phenotypic change, but can cause reproductive problems. |
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FISH can be performed on blood or skin specimens as required.
The laboratory can send specimens to another testing
laboratory for
Fanconi’s anaemia breakage studies. This must be pre-arranged with the
laboratory.
For molecular genetic blood tests available see the LabPlus
molecular genetics section
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For bone marrow and tumour specimen requirements see the
laboratory handbook.
Cancer cytogenetics is performed on bone marrow, blood and a wide
range of solid tumour specimens. The results obtained are used in the
diagnosis of leukaemia and many other cancers. It is also a useful tool
for monitoring a patient’s response to the various forms of treatment
used by clinicians, including bone marrow transplantation.
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Above is an example of a karyotype seen in acute myeloid leukaemia M2.
The patient’s bone marrow shows a translocation between two chromosomes,
one number 8 and one number 21. This translocation used as a prognostic
indicator and to screen for remission.
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Above is an example of a tumour karyotype from a patient with
neuroblastoma, the tumour has three separate cell lines all containing
double minute chromosomes. Double minute chromosomes, indicating
amplification of MYCN, are diagnostic of neuroblastoma. |
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FISH is performed on these specimens as required. The cytogenetics
laboratory also performs FISH on paraffin embedded sections from solid
tumours. A number of different probe panels are used on these sections
including HER2 on breast cancers.
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FISH (Fluorescence in Situ Hybridisation)
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Fluorescence in situ hybridisation (FISH) is a powerful tool for
rapid detection of certain chromosome abnormalities that are
otherwise undetectable or difficult to characterise by conventional
cytogenetic methods. It represents a relatively new type of genetic
testing called molecular cytogenetics, combining the ability to
identify a specific gene or gene region (molecular) with direct
visualisation of the cells and/or chromosomes under the microscope (cytogenetics).
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For a technical overview of FISH, specimen requirements,
and a list of probes held by the LabPlus laboratory see the
laboratory handbook. |
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Above is an example of metaphase FISH (where discrete chromosomes are
visible) on a bone marrow specimen. This probe is used for some acute
myeloid leukaemia patients. The yellow or red and green fused signal
represents a normal pattern. Separate red and green signals indicate a
gene rearrangement. |
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FISH NATIONAL TESTING SERVICE FOR HER2 |
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Key
Contact:
Dr Liangtao Zhang |
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LabPlus cytogenetics is the national testing centre for
HER2.
For HER2 FISH testing, it is important the referring clinicians meet the
following specifications:
• Provide slides (not blocks) – a delay can be expected if blocks
as sections have to be cut (histo) and slides prepared
• The H&E stain is performed beforehand with the area of interest
indicated (circled)
• Correct details are required on the request form
• The Pathology report is included
• If any or all of these pre-requisites are missing, the time to chase
up the information including our pathologist’s time to assess the slide
will extend the report beyond the two weeks |
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LabPLUS, is pleased to announce that Roche
Products
(New Zealand) Ltd will provide fully subsidised funding of HER2
Fluorescence In-Situ Hybridisation (FISH) testing for Immunohistochemistry IHC2+ cases in women with
breast cancer.
If you wish to use this service, please download the
application form, complete in full and submit with your slides to
the FISH Cytogenetics team at LabPLUS in Auckland City Hospital.
Requirements for requesting a free FISH test are listed on the
application form and a
strategy for HER2 FISH
referrals has been attached.
Also attached are the
terms and conditions for the referrers. Please read carefully. |
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Above is an example of HER2 FISH on a paraffin embedded breast carcinoma
specimen. The red colouration shows amplification of HER2. |
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M O L E C U L A R G E N
E T I C S |
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Molecular
Genetics laboratory |
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| Molecular Genetics
Laboratory based in LabPlus, Auckland City Hospital was
established in 1994. The laboratory at present has five staff
members, performing in excess of 1500 tests per annum. |
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Molecular Genetics,
LabPlus is an IANZ accredited laboratory.
IANZ accreditation is based on the international standard
ISO15189.Rigorous assessment of technical competence and
in-depth scrutiny of quality processes are integral to the
assessment. Peer review is mandatory. IANZ accreditation assures
you of a quality result. |
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The laboratory
maintains a active quality assurance program with other
diagnostic laboratories.
The Molecular Genetics Laboratory has set up a interlaboratory
comparison program with Diagnostic Sequencing Laboratory,
Baylor College of Medicine, Houston, USA.
In addition the laboratory has and will continue to participate
in the molecular genetics quality assessment program set up by
the Human Genetics Society of Australasia (HGSA). |
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Our Laboratory not
only accepts samples from within New Zealand but also around the
world.
For specimen requirements go to the specific
test descriptions under routine test
overview.
New Zealand Customers
Sending samples to Auckland City Hospital for testing
Samples for testing by the laboratory should be packed according
to IATA regulation and shipped immediately via overnight courier
to:
Molecular Genetics Laboratory,
LabPlus, Level 2,
Building 31, Auckland City Hospital,
Grafton, Auckland,
New Zealand.
Prenatal samples (chorionic villus sample or
amniotic fluid) should be sent to the Cytogenetics laboratory,
LabPlus who will then forward it to the Molecular Genetics
laboratory.
All prenatal samples should be accompanied by a minimum
of 3ml EDTA maternal blood to rule out the presence of maternal
cell contamination. |
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All samples should be shipped at room temperature. All samples
should not be heated or frozen.
For tests performed at Labplus, please complete page 1 of the and include with
sample.For tests not performed at Labplus, please complete both pages of the and include with
sample (or fax/email separately).
International Customers
Sending samples to Auckland for testing
All samples, normal blood and pre-natal samples, should be
packed according to IATA regulation and shipped immediately via
overnight courier (We recommend
) to:
Molecular Genetics Laboratory,
LabPlus, Level 2,
Building 31, Auckland City Hospital,
Grafton, Auckland,
New Zealand.
Please label on the custom forms, waybill and the
package the following:
Samples are
non-infectious and non-hazardous. For diagnostic testing only.
There will be someone to receive the package in the LabPlus
building 24 hours, 7 days a week. However the sample will not be
processed until the next working day if the samples arrive after
hours or in the weekend.
Please refer to the two PDF documents below for more information
before sending the samples.
All samples should be shipped at room
temperature. They should not be heated or frozen.
Once the package has been sent please
e-mail the laboratory
of the following:
- The courier waybill number
- Number of patient samples being sent
- The test required
This will help to avoid delays in sample
delivery.
We have available (if required) a blood kit that we can send you
in order for you to send your samples to Auckland City Hospital.
The blood kit consists of:
- Molecular Genetics Lab Handbook
- FedEx Waybill and FedEx Diagnostic
Specimen Envelope
- 3 x EDTA tubes
- Patient Consent Form Test Request Form
- IATA approved Biobottle
- Overseas Sendaway Instruction document
- Specimen Labelling Req for Overseas
Samples
Please note that shipping cost are the
responsibility of the referring physician, medical centre or
patient. Courier charges incurred to the laboratory FedEx
account will be recovered by addition to the test charges. |
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M O L E C U L A R
H A E M A T O L O G Y |
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Dr Neil
van de Water |
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| Molecular Haematology offers a
range of tests which include molecular & genetic studies of
haematological malignancies, prenatal & carrier services for the
inherited coagulation & haemoglobin disorders, molecular analysis of
prothrombotic risk factors & molecular analysis of haemochromatosis. |
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