Diagnostic Testing
Information Package
Please download this GRC
Diagnostic Request Information.PDF 50k
for the full information package and request forms to be completed.
Familial Hemiplegic Migraine (FHM1)
CACNA1A
gene - exons 4, 5, 16, 17 and 36)
Familial Hemiplegic Migraine (FHM2)
ATP1A2 gene - exons 17 and 19
Familial Hemiplegic Migraine (FHM3)*
SCNA1A gene - exon 23
Episodic Ataxia Type 2
CACNA1A
gene - exons 22 and 32, intron 24
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts & Leukoencephalopathy (CADASIL)
CADASIL
Notch 3 gene - exons 3 and 4
Extended CADASIL (Extra Testing)
Notch 3 gene - exons 2, 11, 18 and 19
Increased blood homocysteine concentration
MTHFR
MTHFR gene – C677T
Polymorphism
Spinocerebellar Ataxia Type 6 (SCA6)*
MTHFR gene – C677T
CACNA1A gene - exon 6 and 3' UTR
* Indicates test currently NOT accredited by NATA
DiagnosticTesting Requirements
Samples originating in Australia
All tests have been listed on the HGSA website.
The request form must contain the items highlighted in bold, other information is optional:
- Patient's First name and Surname
- Patient's Date of Birth
- Patient's Sex
- Patient's Address
- Medicare Number
- Ward and hospital if inpatient
- Requesting Doctor's Name
- Requesting Doctor's Address
- Provider Number
- Doctor's Signature
- Tests Requested
- Date of request
- Clinical Notes
- Names and addresses of copy doctors
- Date and Time of collection
- Identity of Specimen Collector
- Type of specimen
- Amount of specimen
- Containers collected
- Billing arrangements
Specimen Collection Protocol for Diagnostic Testing Samples
5mls of whole blood in EDTA or 5mls of blood in Lithium Heparin is required for genetic testing. This must be
packed in ice for transport.
Send blood on ice by overnight courier so as to arrive within 24 hours of collection.
OR
DNA extracted from 10mls of blood collected in
EDTA or lithium heparin. Please indicate whether the DNA is stored in
TE
or water. Please ensure that 260/280 ratios are 1.6-2.1 and 260/230 ratios are 1.7-2.3 for purified DNA.
Please Note: any DNA specimens arriving at
GRC after seven (7) days will be rejected and a recollection is required.
ATTENTION: Lyn Griffiths
GENOMICS RESEARCH CENTRE (GRC) Clinic
Griffith University, Gold Coast Campus
Parklands Drive, Southport Qld 4215
STS Store, Glycomics 1 Building (G26), Clinical Lane, Room 3.12
Ph: 07 5552 8569 (STS Store)
Ph: 07 5552 9771 Fax: 07 5552 9202 (GRC Clinic)
Please do not collect or send blood samples on Thursdays or Fridays in case of delays.
All tests will take approximately six to eight weeks from time of receipt of the blood or DNA sample.
Test charges upon request. Please email: grcclinic@griffith.edu.au or telephone 07 5552 9201
Sorry there is no Medicare rebate available, GST must be added to all test charges.
Samples originating from any country other than Australia
All tests have been listed on the HGSA website.
Request documentation is required. The request form must contain the items highlighted in bold, other information is optional: - Patient's First name and Surname
- Patient's Date of Birth
- Patient's Sex
- Patient's Address
- Medicare Number
- Ward and hospital if inpatient
- Requesting Doctor's Name
- Requesting Doctor's Address
- Provider Number
- Doctor's Signature
- Tests Requested
- Date of request
- Names and addresses of copy doctors
- Date and Time of collection
- Identity of Specimen Collector
- Type of specimen
- Amount of specimen
- Containers collected
- Clinical Notes
- Billing arrangements
DNA is to be extracted from 10mls of EDTA
blood - please include method of extraction and if DNA is in
TE.
All tests will take approximately eight to ten weeks from time of receipt of DNA sample.
Test charges upon request. Please email: grcclinic@griffith.edu.au or telephone: +61 - 7 - 5552 - 9201
Quarantine and Customs permit requirements for the importation of Human Tissues and fluids into Australia in accordance with
AQIS "Condition C5405" no Quarantine Entry and Import Permit are required for human
DNA for therapeutic use or in-vitro testing but all samples must be labelled "product of human origin"
or be accompanied with supporting documentation from the supplier or exporter e.g. letter or invoice.
Please search the AQIS website
for any changes to condition C5405 and condition C9000.
Print a copy of those conditions and send with any shipping documentation accompanying the sample.
DNA does not require refrigeration or freezing in dry ice so may be sent by normal mail but
the sample must be packed in accordance with international IATA
requirements concerning safe handling, transport and labelling of biological material.
All samples must be sent to:
ATTENTION: Lyn Griffiths
GENOMICS RESEARCH CENTRE (GRC) Clinic
Griffith University, Gold Coast Campus
Parklands Drive, Southport Qld 4215 Australia
STS Store, Glycomics 1 Building (G26), Clinical Lane, Room 3.12
Ph: +61 - 7 - 5552 - 8569 (STS Store)
Ph: +61 - 7 - 5552 - 9771 Fax: +61 - 7 - 5552 - 9202 (GRC Clinic)
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