Download Although patients are responsible for travelling to the referral centres

Newcastle upon Tyne - Referral Centre for Limb Girdle Muscular Dystrophy
Funded through the National Commissioning Group (NCG), 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:
NCG LGMD Samples, Diagnostic Molecular Genetics Unit, Institute for Human Genetics,
International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ
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:
NCG LGMD Samples
Diagnostic Molecular Genetics Unit
Institute for Human Genetics
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE1 3BZ
NCG Secretary, 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]
Filename: Info pack
Version: 4.0
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
CLINICAL DIAGNOSIS
GENE
PROTEIN
(Please specify the request ticking the box where appropriate)
□ AD-EDMD
□ LGMD1B
□ Cardiomyopathy
□ CMT2B1
□ LGMD2I
□ Inclusion body myopathy, Paget disease
LMNA
Lamin A/C
LMNA
Lamin A/C
LMNA
Lamin A/C
LMNA
Lamin A/C
FKRP
Fukutin related protein
of the bone and frontotemporal dementia
VCP
Valosin Containing Protein
CLINICAL DIAGNOSIS
GENE
PROTEIN
Sarcoglycanopathies
(LGMD2C-2D-2E-2F)
SGCA
SGCB
SGCD
SGCG
Alpha Sarcoglycan
Beta Sarcoglycan
Delta Sarcoglycan
Gamma Sarcoglycan
LGMD2A
CAPN3
Calpain 3
LGMD2B
Myoshi Myopathy
DYSF
DYSF
Dysferlin
Dysferlin
LGMD1C
Rippling Muscle Disease
CAV3
CAV3
Caveolin 3
Caveolin 3
Myofibrillar Myopathies
CRYAB
DES
LDB3/ZASP
MYOT
Alpha Crystallin B Chain
Desmin
Lim Domain binding protein 3
Myotilin
X Linked EDMD
EMD
Emerin
NCG Secretary, 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]