Download muscle biopsy - dispatch instructions

Filename: Dispatch instructions
Version: 3.2
Newcastle upon Tyne
Referral Centre for Limb Girdle Muscular Dystrophy
Funded through the National Specialised Commissioning Team for Highly Specialised Services (NSCT),
London Strategic Health Authority and the Specialised Health Services Commission for Wales
DISPATCH INSTRUCTIONS
PLEASE READ CAREFULLY
DNA and Blood samples and corresponding referral form should be sent directly to:
NSCT LGMD Samples, Diagnostic Molecular Genetics Unit, Institute of Genetic Medicine,
International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ
Muscle biopsy samples and accompanying forms should be sent to:
NSCT LGMD Referral Centre, Muscle Immunoanalysis Unit, Lower Ground Floor (Room
2.026), Dental Hospital, Richardson Road, Newcastle upon Tyne, NE2 4AZ - Tel: 0191 282
0841 or Fax: 0191 282 0840
MUSCLE BIOPSY - DISPATCH INSTRUCTIONS
MUSCLE BIOPSIES ARE EXTREMELY PRECIOUS SPECIMENS AND IT IS IMPORTANT THAT
THESE INSTRUCTIONS ARE FOLLOWED PRECISELY. FAILURE TO FOLLOW THE
INSTRUCTIONS MAY RESULT IN THE SPECIMEN BECOMING LOST, DELAYED, DAMAGED OR
ARRIVING AT A TIME WHEN THE LABORATORY IS CLOSED.
IF YOU ARE IN ANY DOUBT PLEASE CONTACT THE LABORATORY FOR ADVICE
TELEPHONE:
0191 2820841 / 2820846 / 2820849 / 2820847
MON – FRI 10.00 – 16.00
Contact The Lab For Permission To Send Muscle Biopsies
You must have permission from a member of our staff BEFORE you send a specimen
If you send an e-mail or leave a message on our answer phone, DO NOT send samples until a staff
member contacts you and confirms that the sample can be sent. Contact numbers are given above so
please keep trying
We accept no responsibility for the safety of samples sent without the prior consent of our unit
Specimen Requirements – Muscle Biopsies
An unfixed frozen muscle sample, in transverse orientation, measuring approximately 3mm x 3mm x 3mm
(25 mg) is the minimum required for immunoanalysis
If a separate snap-frozen piece of the same size is not available for blotting, sections will be cut from the
block and processed before the rest of the sample is passed on for western blotting
Please note that we are not able to accept muscle biopsies from patients known or
suspected of being infected with a Hazard Group 3 or 4 organism, such as TB, HIV or
Hepatitis B and C.
NSCT Administrator, Muscle Immunoanalysis Unit
Lower Ground Floor, Dental Hospital, Richardson Road, Newcastle upon Tyne, NE2 4AZ
phone: 0191 282 0841 fax: 0191 282 0840 email [email protected]
Website : http://neuromuscular.nuth.nhs.uk/
Filename: Dispatch instructions
Version: 3.2
Packaging Requirements for Muscle Biopsies– Dry Ice Is Essential
The muscle sample must be sent in dry ice, using a courier for ‘door to door’ delivery.
(eg TNT or PDP Pharmaceutical couriers– NOT Royal Mail special delivery)
Pack the muscle sample in a thick-walled (e.g. 2") polystyrene container, enclosed in a cardboard box.
Suitable containers (e.g. the Biotherm range) which meet all current transport regulations can be obtained
from
http://www.intelsius.com/products/temperature-controlled-packaging-and-cold-chain-solutions/biotherm or
http://www.cool-logistics.com/products.aspx
Fill with sufficient dry ice to last 48 hours (e.g. several kg). The optimal amount of dry ice depends on
several factors, including the internal volume of the insulated container, the wall thickness and so on.
Examples can be found at: www.cool-logistics.com.au/dryice/CL_DryIceCalculator.xls
Do not try to pack the dry ice with polystyrene chips, bubble wrap or any other material that will mix with
the dry ice during transit and insulate the sample from the dry ice.
Documents To Accompany Specimens
When you send the samples, please include:
 Pre-referral form
 A covering letter, with the names and addresses of any additional people who will require copies of
letters or reports e.g. GPs
 A recent clinical summary letter
 A copy of the histopathology report
 Patient consent for storage of tissue and use in research
Laboratory Address For Sending Muscle Biopsies
Address the package to:
NSCT LGMD Referral Centre
Muscle Immunoanalysis Unit
Lower Ground Floor (Room 2.026)
Dental Hospital,
Richardson Road
Newcastle upon Tyne
NE2 4AZ
Please make sure the referral is for the Newcastle LGMD Service, not
the Mitochondrial Service. DO NOT include specimens for Muscle
Immunoanalysis Unit in packages to other departments.
Please put address labels on more than one side because the courier will usually apply a company label
to the top surface and it may obscure delivery address
Please do not forward specimens to us through other parties – they may not be aware of the requirements
or urgency associated with these specimens.
Do not send samples to arrive on a Friday. Delays may well move the delivery of your package into the
weekend. Our unit is not staffed at these times and your sample will thaw and be lost.
NSCT Administrator, Muscle Immunoanalysis Unit
Lower Ground Floor, Dental Hospital, Richardson Road, Newcastle upon Tyne, NE2 4AZ
phone: 0191 282 0841 fax: 0191 282 0840 email [email protected]
Website : http://neuromuscular.nuth.nhs.uk/
Filename: Dispatch instructions
Version: 3.2
Newcastle upon Tyne
Referral Centre for Limb Girdle Muscular Dystrophy
Funded through the National Specialised Commissioning Team for Highly Specialised Services (NSCT),
London Strategic Health Authority and the Specialised Health Services Commission for Wales
BLOOD SAMPLES FOR DNA ANALYSIS – DISPATCH INSTRUCTIONS
Specimen Requirements – Blood For DNA Analysis
Blood samples must be fresh (i.e. collected within the previous 24h)
Blood samples must be collected into 2 x 10ml EDTA tubes (not clotted blood)
Packaging Requirements – Blood For DNA Analysis
Send at ambient temperature via First Class mail for next day delivery. Use standard packaging as
required for Diagnostic Specimens
Do not send samples for delivery on a Saturday. The best days to send samples are Monday to
Wednesday.
Documents To Accompany Blood Specimens
When you send the samples, please include:
 Pre-referral form (please indicate when the muscle biopsy was sent)
 Request form (next page)
 A covering letter, with the names and addresses of any additional people who will require copies of
letters or reports e.g. GPs
 A recent clinical summary letter
 A consent form signed by the patient to use the blood sample for genetic testing
Samples must be clearly labelled with patient name, date of birth, and post code
Laboratory Address For Sending Blood For DNA Analysis
Address the package to:
NSCT LGMD Samples
Diagnostic Molecular Genetics Unit
Institute of Genetic Medicine
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE1 3BZ
NSCT Administrator, Muscle Immunoanalysis Unit
Lower Ground Floor, Dental Hospital, Richardson Road, Newcastle upon Tyne, NE2 4AZ
phone: 0191 282 0841 fax: 0191 282 0840 email [email protected]
Website : http://neuromuscular.nuth.nhs.uk/
Filename: Dispatch instructions
Version: 3.2
PLEASE NOTE
For most types of LGMD, it is very difficult for us to undertake DNA analysis without prior
immunoanalysis of the proteins in a muscle biopsy to guide mutation detection. This is due to
the large number of possible genes associated with an LGMD phenotype. There are some
exceptions where analysis of the muscle biopsy may not be strictly necessary or even unhelpful.
These examples include screening of the LMNA, FKRP and VCP genes. For these genes we
require the relevant clinical history to be provided in order to judge the relevance of the request.
We reserve the right to analyse DNA samples ACCORDING TO MUSCLE BIOPSY
RESULTS AND CLINICAL INFORMATION/DIAGNOSIS.
PLEASE NOTE THAT DYSTROPHIN GENE ANALYSIS IS NOT OFFERED BY THIS
SERVICE.
Biopsy sent:
yes / no
(yes: date………………….)
GENES ANALYSED
(Please specify the request ticking the box where appropriate)
CLINICAL DIAGNOSIS
GENE
□ AD-EDMD/LGMD1B/ Cardiomyopathy/CMT2B1
□ Myofibrillar Myopathy *
□ LGMD1C/Rippling Muscle Disease
□ Inclusion body myopathy, Paget disease
of the bone and frontotemporal dementia
□ LGMD2A
□ LGMD2I
□ Sarcoglycanopathies (LGMD2C-2D-2E-2F) *
□ Anoctaminopathy/LGMD2L
□ LGMD2B/Myoshi Myopathy
□ Hereditary inclusion body myopathy
□ FHL1 Myopathy
□ X Linked EDMD
Δ
LMNA
CRYAB +DES+MYOT+FLN-C
CAV3
VCP
CAPN3
FKRP
Δ
SGCA+SGCB+SGCD+SGCG
ANO5
DYSF
GNE
FHL1
EMD
* Please note that these genes are reported as a group.
Δ
Low referral rate may affect turnaround times.
NSCT Administrator, Muscle Immunoanalysis Unit
Lower Ground Floor, Dental Hospital, Richardson Road, Newcastle upon Tyne, NE2 4AZ
phone: 0191 282 0841 fax: 0191 282 0840 email [email protected]
Website : http://neuromuscular.nuth.nhs.uk/