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Molecular Diagnostics Service
Molecular
Diagnostics Service is a CUHK-funded genetic laboratory service.
Our
mission
•
Provide
quality genetic testing services to families suffering from various monogenic
disorders.
•
Provide
evidence-based genetic information to public and private practitioners.
•
Promote
proper and ethical use of genetic information in counselling and clinical
management.
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Clinical consultation
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Molecular testing
i.
Diagnostic testing for symptomatic individual to confirm or
exclude a genetic condition;
ii.
Predictive testing for healthy individual with known genetic
condition running in the family;
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Genetic counseling
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Please contact us prior to
sample collection.
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Request form (
).
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Please provide the
following information:
i.
Full clinical details, important investigation results and
family history.
ii.
Name of person responsible for sample collection.
Precaution should be taken to prevent
swapping sample in the collection process.
iii.
Name of medical practitioner who obtain informed consent from
the patient (or parents/guardian).
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Provide proper genetic counseling
and obtain informed consent. Patient’s (or parents’/guardian’s) consent is mandatory
for genetic testing. Please see Test
classification for more information about consent.
The Laboratory may refuse
to issue a report if it is determined that an informed consent has not been
obtained.
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Send the completed request
form, consent form, sample, and cheque to the University Pathology Service,
Rm33016, 1/F, Old Block (or Day Treatment Block and Children Wards), Prince of
Wales Hospital, Shatin, N.T., Hong Kong.
l Please contact us for genetic tests not listed in the test menu.
l
All genetic tests are classified into Level
1 or Level 2 according to the NPAAC guideline (Laboratory Accreditation Standards and
Guidelines for Nucleic Acid Detection and Analysis. National Pathology
Accreditation Advisory Council, 2006. http://www.health.gov.au/internet/main/publishing.nsf/Content/health-npaac-docs-nad.htm)
Level 1
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Examples: diagnostic testing
in an affected subject, testing of healthy subjects with results not predictive
of disease in the subject (e.g. determination of carrier status for autosomal
recessive disorders).
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There must be a clear
clinical indication for the requested molecular genetic tests.
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Consent is mandatory;
verbal or written consent are acceptable. For verbal consent, requesting
clinician must indicate on the request form that consent for testing has been
obtained.
Consent
form (English
) (Chinese
)
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Full report will be released
in the Hospital Authority Clinical Management System (CMS) if not requested
otherwise by the requesting clinician.
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For carrier detection, truncated report (without
result and diagnosis) will be released in the CMS. Full report will be mailed
to the requesting clinician.
Level 2
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Examples: presymptomatic
testing of tumor/cancer associated conditions (e.g. multiple endocrine
neoplasia type 2), presymptomatic testing involving children (e.g. Wilson
disease), presymptomatic testing for disease with minimal treatment benefit
(e.g. adult-onset spinal muscular atrophy)
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Patients must be referred
from designated specialists (details in Test
Menu).
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Written consent is
mandatory.
Consent
form (English
) (Chinese
)
l For selected presymptomatic genetic tests, a second independent blood sample is required to confirm first analysis results.
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Truncated report (without result and
diagnosis) will be released in the CMS. Full report will be mailed to the
requesting clinician.
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Available on request
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2 bottles of 3mL EDTA
whole blood for post-natal testing (1 bottle of 3mL EDTA whole blood acceptable
for infants and children).
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All samples should be
properly labeled with patient name and HKID number.
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DNA in whole blood is
stable at room temperature for a few days, so no special handling precaution is
necessary in general. However, if delay in sample dispatch is expected, please store
blood samples at 4°C for no more than 3 days.
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Cheque payable to The Chinese University of Hong Kong.
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All reports will be mailed to the
requesting clinicians.
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Electronic copies (either full reports or truncated
reports) of reports will be released in the Hospital Authority Clinical
Management System.
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Request form (
)
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Consent form (English
) (Chinese
)
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Map (
)
University
Pathology Service
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Tel: 2632 2313
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Fax: 2636 0540
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Email: helen-mak@cuhk.edu.hk
|
Address: Rm 33016, 1/F, Old Block (or
Day Treatment Block and Children Wards), Prince of Wales Hospital, Shatin,
N.T., Hong Kong
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大學化驗中心
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電話號碼 2632 2313
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傳真號碼 2636 0540
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電郵: helen-mak@cuhk.edu.hk
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地址: 香港沙田威爾斯親王醫院舊座1樓33016室
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12.
Useful
information to clinicians
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Handling of samples and
DNA extracted from it after genetic testing is completed
i.
The Laboratory may retain and use leftover samples for medical
research or use them as control for other genetic conditions after removal of
all identifying information.
ii.
Please indicate on the request form if your patient does not
consent to this.
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Genetic counseling
i.
Genetic counseling should be regarded as an integral part of
genetic testing process. Medical practitioners should provide proper pre-test
and post-test counseling to patients undergoing genetic testing.
ii.
Patients must be informed about the purpose, limitations,
benefits and risks of the genetic test(s) for themselves and their family.
Please discuss with us before sending samples to the laboratory.
iii.
The sensitivity and specificity of genetic test results are determined
by the molecular technique(s) used and these may differ for different genetic
tests. Relevant information will be provided in our reports.
Last modified: 1 August 2011