Download Staffing (Please give details as at April 1st of the year of application)

Application for laboratory to join the
UK Genetic Testing Network
For help and clarification in completing this form please contact the UKGTN project team
UKGTN Project team:
UK Genetic Testing Network
c/o National Specialised Commissioning Team
2nd Floor
Southside
105 Victoria Street
London
SW1E 6QT
e-mail: [email protected]
Tel:
020 7932 3969
Fax: 020 7932 3800
Please refer to the ‘Process and Criteria for UKGTN Laboratory Membership as a
Diagnostic or Technical Service Provider’ document before completing this application
form.
Please indicate the date of
application
Please indicate what type of UKGTN membership your laboratory is applying for
a) Diagnostic membership
b) Technical membership
Laboratory details
Laboratory name
Laboratory Address
Laboratory phone number
Laboratory fax number
Laboratory e-mail address
Laboratory Web address
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
1
Organisational details
Head of Laboratory
Tel Number
Fax Number
Email address
Signature of Head of
Laboratory
Owning Institution
Name and Address of
Chief Executive of
owning institution
Signature of Chief
Executive
Please note that for NHS organisations, the UKGTN will inform the relevant
NHS commissioners should the laboratory become a member.
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
2
Criteria for participating laboratories
Section 1 – to be completed by all applicants
1. Laboratory accreditation
UKGTN requires laboratories to be either accredited by CPA or another recognised agency or to
have lodged an application for accreditation. For those laboratories awaiting inspection
accreditation should be achieved within 18 months, inspection schedule permitting.
1.1 Is the applicant Laboratory:
a) Accredited by CPA for:
 Molecular genetic testing
 Cytogenetic testing
Y/N
Y/N
CPA number:
CPA number:
b) Registered for accreditation with CPA
Y/N
(Accreditation should be achieved within 18 months of application to join UKGTN,
inspection schedule permitting).
Please state the specialties registered for:
c) Accredited with another recognised agency of laboratory accreditation
Y/N
Please specify agency
d) Registered for accreditation with another agency of laboratory accreditation
Y/N
(Accreditation should be achieved within 18 months of application to join UKGTN,
inspection schedule permitting).
Please specify agency
e) For Technical members:
Accredited with ISO 17025
Registered with the Care Quality Commission:
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
Y/N
Y/N
3
Instructions for which sections and appendices to complete

If your laboratory has full CPA accreditation for Cytogenetics or Molecular
Genetics
Section 2 (questions 2 to 6)
Appendx 1 Notification of tests laboratory wishes to offer
Appendix 2 Declaration of Interests

If you are registered with CPA and awaiting inspection or registered with
another recognised agency of laboratory accreditation please complete
Section 3 (questions 8 to 17)
Appendx 1 Notification of tests laboratory wishes to offer
Appendix 2 Declaration of Interests

Pages
5-8
Pages
9-17
If you are applying as a technical member accredited with ISO17025 and
registered with the Care Quality Commission please complete
Section 4 (questions 18 to 26 )
Appendx 1 Notification of tests laboratory wishes to offer
Appendix 2 Declaration of Interests
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
Pages
18-23
4
Section 2 – to be completed by
applicants with full CPA accreditation for Cytogenetics or Molecular
Genetics
2. Reporting times
Please complete the proforma in appendix 2, using a separate form for each test to be offered on
the network (please make as many copies as required) stating:
 the levels of service offered (e.g. mutation screening /confirmation of known
mutations/gene tracking/prenatal etc),
 reporting times for both urgent and non-urgent referrals and
 percentage compliance to the reporting times for the last full financial year prior to
application.
Please note tests offered to the network need to be available nationally.
3. Information on monitoring activity data
There needs to be a minimum dataset for monitoring purposes, to include reporting times,
number of tests per annum, geographic data on referrals (in the form of resident postcodes) to
monitor equity of access and audit and outcome data to monitor effectiveness of service.
Please indicate whether or not you return audit data to the relevant professional organisation
when requested:
CMGS
Y/N
ACC Y/N
It is mandatory for the applicant laboratory to complete UKGTN audit/activity reviews as
required.
Activity data
Service area: Cytogenetic
Please give data for 1st April to 31st March of the most recent financial year listing the number of
reports issued for each of the bands. See Appendix 3 for information on the Genetic Units System used to
assign tests to bands.
No of reports
Band A – sample receipt and processing
Band A – sample exports
Band A – cell freezing/storage
Band B
Band C
Band D
Band E
Service area: molecular
Please give data for 1st April to 31st March of the most recent financial year listing the number of
reports issued for each of the bands. See Appendix 3 for information on the Genetic Units System used to
assign tests to bands.
No of reports
Band A – DNA extractions
Band A – DNA exports
Band B
Band C
Band D
Not applicable
Band E
Band F
Band G
Band H
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
5
The UKGTN will require the resident postcodes for laboratory reports issued
Please estimate the current proportion of reports in which the resident postcode has been
recorded.
4. Clinical environment
The applicant laboratory needs to demonstrate that the lab has management arrangements and
a critical mass capable of providing a supportive environment for a specialist service. This
includes advice on clinical interpretation and reporting.
Please describe what arrangements you have in place to access clinical advice to
interpret the clinical significance of results and to make counselling services available to
patients and their families.
5. Research and development activity
The applicant laboratory should have a relationship with at least one University Department with
expertise in genetics with an expectation that it would, through its University links, attract
research grants and carry out research.
5.1 Please give details of University Department(s) or others with whom you have research links:
Head of Department:
Address of Department:
5.2 Please specify any tests that you have introduced into your laboratory in the past two years
and advise which of these have been as a result of collaborations with a University department
as listed in 5.1
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
6
5.3 Please specify any new techniques/technology that you have introduced into your laboratory
in the past two years and advise which of these have been as a result of collaborations with
a University department as listed in 5.1
5.4 Please list current research projects/collaborations and how they are funded.
Current research projects/collaborations
Description of how project/collaboration is funded
5.5 Please list the publications that your laboratory contributed to in the last financial year
6.Dissemination of information on availability of services
In order to facilitate equal access to services, I agree that the applicant laboratory, as part
of the UKGTN, will provide information to the UK Genetic Testing Network using
standardised formats provided by them where applicable.
I agree to inform the UKGTN of any changes to the laboratory services including changes
in service provision, technology, organisational structures and appropriate research
structures.
I agree to the guidelines laid out in the document entitled ‘Framework for Delivering the
UKGTN’ including the provision of requested information.
Signed:
Name (print):
Position:
Date:
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
7
Section 3 – to be completed by applicants registered with CPA and
awaiting inspection or registered with another recognised agency of
laboratory accreditation please complete
7. Reporting times
Please complete the proforma in appendix 2, using a separate form for each test to be offered on
the network (please make as many copies as required) stating:
 the levels of service offered (e.g. mutation screening /confirmation of known
mutations/gene tracking/prenatal etc),
 reporting times for both urgent and non-urgent referrals and
 percentage compliance to the reporting times for the last full financial year prior to
application.
Please note tests offered to the network need to be available nationally.
8. External Quality Assurance
Evidence of participation in the relevant formal EQA schemes will be required by the UK Genetic
Testing Network Laboratory Membership & Audit Working Group.
8.1List the external quality assurance Schemes in which you participate
8.2 Have you have been contacted by a Scheme Organiser with regard to persistent poor
performance in the last 12 months?
Y/N
9. Support from owning Institution and Host commissioners – for NHS organisations
Applicant laboratories need to demonstrate the support from their owning institution to provide
stability and quality of service including infrastructure, space and services. Arrangements for
paying capital charges must be transparent and the host must indicate that this will lead to a
planned and timely programme of capital (equipment) replacement.
9.1 How do you engage in the commissioning process?
Please detail the frequency with which meetings are held with commissioners or purchasers
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
8
9.2. What support do you receive from your owning institution with respect to infrastructure,
space and service requirements and a timely programme of capital (equipment)
replacement. Please detail the process by which the management of the owning institution
and the laboratory interact e.g. type and frequency of meetings
9.3 Please specify the mechanism to replace obsolete items of equipment costing more than
£10,000.
10. Information on monitoring activity data
There needs to be a minimum dataset for monitoring purposes, to include reporting times,
number of tests per annum, geographic data on referrals to monitor equity of access and audit
and outcome data to monitor effectiveness of service.
Please indicate whether or not you return audit data to the relevant professional organisation
when requested:
CMGS
Y/N
ACC
Y/N
It is mandatory for the applicant laboratory to complete UKGTN audit/activity reviews as
required.
Activity data
Service area: Cytogenetic
Please give data for 1st April to 31st March of the most recent financial year listing the number of
reports issued for each of the bands. See Appendix 3 for information on the Genetic Units System used to
assign tests to bands.
No of reports
Band A – sample receipt and processing
Band A – sample exports
Band A – cell freezing/storage
Band B
Band C
Band D
Band E
Service area: molecular
Please give data for 1st April to 31st March of the most recent financial year listing the number of
reports issued for each of the bands. See Appendix 3 for information on the Genetic Units System used to
assign tests to bands.
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
9
No of reports
Band A – DNA extractions
Band A – DNA exports
Band B
Band C
Band D
Band E
Band F
Band G
Band H
Not applicable
10.1 The UKGTN will require the resident postcodes for laboratory reports issued
Please estimate the current proportion of reports in which the resident postcode has been
recorded.
11. Provision of a robust and sustainable service
The applicant laboratory needs to demonstrate that it can provide a reliable service.
Considerations include staffing (vacancies, maternity/long and short term sick leave, holidays
and training), technical considerations (planning for technical failure) and contingency plans for
major incidents.
11.1 For NHS organisations
Staffing (Please give details as at April 1st of the year of application)
Please provide staffing structure and indicate the Agenda for Change band for each position and
whether or not the current post holder is HPC registered.
11.2 For non-NHS organisations
Please provide staffing structure for laboratory and indicate whether the current post holder for
each position is HPC registered.
11.3 Describe how you deal with vacancies, maternity/long and short term sick leave, holidays and
training
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
10
11.4 Describe how you plan for technical failure and major incidents
11.5 What facility do you have for the long-term storage of samples?
11.6 What is your policy for long term storage of samples?
12. Clinical, technical and scientific environment
The applicant laboratory needs to demonstrate that the lab has management arrangements and
a critical mass capable of providing a supportive environment for a specialist service. This
includes support for technical trouble shooting, advice on clinical interpretation and reporting and
a scientific and management objective setting environment capable of absorbing and integrating
new scientific and technical developments relevant to the specialist service.
Clinical
12.1 Please describe what arrangements you have in place to access clinical advice to interpret
the clinical significance of results and to make counselling services available to patients and their
families.
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
11
Technical
12.2 Please describe the support you have in place to deal with technical trouble shooting
Scientific environment
12.3 Please provide information on the scientific and management arrangements you have in
place to allow for the integration of new scientific and technical developments into your service.
13. Audit
The applicant laboratory needs to demonstrate a commitment and ability to carry out clinical
audit relevant to the specialist test.
Please provide details of clinical audit activity that you have undertaken during 1st April to 31st
March of the most recent financial year.
14. Research and development activity
The applicant laboratory should have a relationship with at least one University Department with
expertise in genetics with an expectation that it would, through its University links, attract
research grants and carry out research.
14.1 Please give details of University Department(s) or others with whom you have formal links:
Head of Department:
Address of Department:
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
12
14.2 Please specify any tests that you have introduced into your laboratory in the past two years
and advise which of these have been as a result of collaborations with a University
department as listed in 15.1
14.3 Please specify any new techniques/technology that you have introduced into your
laboratory in the past two years and advise which of these have been as a result of
collaborations with a University department as listed in 15.1
14.4 Please list current research projects/collaborations and how they are funded.
Current research projects/collaborations
Description of how project/collaboration is funded
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
13
14.5 Please list the publications that your laboratory contributed to in the last financial year
15.Responsibility of service
15.1 Please identify the chain of responsibility for any errors:
15.2 Please demonstrate compliance to legal imperatives and the need for indemnification,
which includes compliance with the ‘In vitro diagnostic medical devices directive 98/79/EC’ and
the Human Tissue Act licensing arrangements
15.3 Please identify the lines of responsibility for subcontracting and provide information on
any arrangements that are in place for sub-contracting to another provider:
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
14
16. Dissemination of information on availability of services
In order to facilitate equal access to services, I agree that the applicant laboratory, as part
of the UKGTN, will provide information to the UK Genetic Testing Network using
standardised formats provided by them where applicable.
I agree to inform the UKGTN of any changes to the laboratory services including changes in
service provision, technology, organisational structures and appropriate research structures.
I agree to the guidelines laid out in the document entitled ‘Framework for Delivering the UKGTN’
including the provision of requested information.
Signed:
Name (print):
Position:
Date:
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
15
Section 4 – to be completed by applicants accredited to ISO17025 &
registered with the CQC
Technical providers
17. Reporting times
Please complete the proforma in appendix 2, using a separate form for each test to be offered on
the network (please make as many copies as required) stating:
 the levels of service offered (e.g. mutation screening /confirmation of known
mutations/gene tracking/prenatal etc),
 reporting times for both urgent and non-urgent referrals and
 percentage compliance to the reporting times for the last full financial year prior to
application.
Please note tests offered to the network need to be available nationally.
18. External Quality Assurance
Evidence of participation in the relevant formal EQA schemes will be required by the UK Genetic
Testing Network Laboratory Membership & Audit Working Group.
18.1List the external quality assurance Schemes in which you participate
18.2 Have you have been contacted by a Scheme Organiser with regard to persistent poor
performance in the last 12 months?
Y/N
19. Support from owning Institution
Applicant laboratories need to demonstrate the support from their owning institution to provide
stability and quality of service including infrastructure, space and services. Arrangements for
paying capital charges must be transparent and the host must indicate that this will lead to a
planned and timely programme of capital (equipment) replacement.
What support do you receive from your owning institution with respect to infrastructure, space
and service requirements and a timely programme of capital (equipment) replacement. Please
detail the process by which the management of the owning institution and the laboratory interact
e.g. type and frequency of meetings
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
16
20.Provision of a robust and sustainable service
The applicant laboratory needs to demonstrate that it can provide a reliable service.
Considerations include staffing (vacancies, maternity/long and short term sick leave, holidays
and training), technical considerations (planning for technical failure) and contingency plans for
major incidents.
20.1 For NHS organisations
Staffing (Please give details as at April 1st of the year of application)
Please provide staffing structure and indicate the Agenda for Change band for each position and
whether or not the current post holder is HPC registered.
20.2 For non-NHS organisations
Please provide staffing structure for laboratory and indicate whether the current post holder for
each position is HPC registered.
20.3 Describe how you deal with vacancies, maternity/long and short term sick leave, holidays and
training
20.4 Describe how you plan for technical failure and major incidents
20.5 What facility do you have for the long-term storage of samples?
20.6 What is your policy for long term storage of samples?
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
17
21. Technical and scientific environment
The applicant laboratory needs to demonstrate that the lab has management arrangements and
a critical mass capable of providing a supportive environment for a specialist service. This
includes support for technical trouble shooting and a scientific and management objective
setting environment capable of absorbing and integrating new scientific and technical
developments.
Technical
21.1 Please describe the support you have in place to deal with technical trouble shooting
Scientific environment
21.2 Please provide information on the scientific and management arrangements you have in
place to allow for the integration of new scientific and technical developments into your service.
23. Research and development activity
It is recommended that the applicant laboratory should have a formal relationship with at least
one University Department with expertise in genetics although it is recognised that this is not a
requirement for TSPs.
23.1 Please give details of University Department(s) or others with whom you have formal links:
Head of Department:
Address of Department:
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
18
23.2 Please specify any tests that you have introduced into your laboratory in the past two years
and advise which of these have been as a result of collaborations with a University
department as listed in 24.1
23.3 Please specify any new techniques/technology that you have introduced into your
laboratory in the past two years and advise which of these have been as a result of
collaborations with a University department as listed in 24.1
23.4 Please list current research projects/collaborations and how they are funded.
Current research projects/collaborations
Description of how project/collaboration is funded
23.5 Please list the publications that your laboratory contributed to in the last financial year
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
19
24. Responsibility of service
24.1 Please identify the chain of responsibility for any errors:
24.2 Please demonstrate compliance to legal imperatives and the need for indemnification, which
includes compliance with the 'In vitro diagnostic medical devices directive 98/79/EC' and the
Human Tissue Act licensing arrangements
24.3 Please identify the lines of responsibility for subcontracting and provide information on any
arrangements that are in place for sub-contracting to another provider:
25. Services to be provided to UKGTN Diagnostic Laboratories
Technical Service Providers are required to provide services to UKGTN Diagnostic Laboratories
in order to maintain membership of UKGTN.
25.1 Using appendix 1 (please make as many copies as required), please provide a list of the
services that will be available to UKGTN Diagnostic Laboratories.
25.2 If services are already being provided to UKGTN Diagnostic Laboratories, please list the
laboratory name and the services that are being provided.
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
20
26. Dissemination of information on availability of services
In order to facilitate equal access to services, I agree that the applicant laboratory, as part
of the UKGTN, will provide information to the UK Genetic Testing Network using
standardised formats provided by them where applicable.
I agree to inform the UKGTN of any changes to the laboratory services including changes in
service provision, technology, organisational structures and appropriate research structures.
I agree to the guidelines laid out in the document entitled ‘Framework for Delivering the UK GTN’
including the provision of requested information.
Signed:
Name (print):
Position:
Date:
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
21
Appendix 1: Proforma for the notification of tests that the laboratory would like to offer to UKGTN.
Laboratories applying for diagnostic membership will be required to submit Gene Dossiers (or additional
provider forms where the test is already on the Directory) for tests that they wish to provide to the UKGTN
once their application for membership has been accepted to pass stage 1. UKGTN tests must be provided
as a national service.
UKGTN Website information proforma – must be completed
Please indicate what service you propose to offer. This is the information that will be displayed on the
application is successful
Name of disease/
OMIM number(s)
condition
Name of gene(s)
OMIM number(s)
Service levels
Qualifiers
Turnaround time
(Working days) &
% compliance
Sequencing of the
entire coding region of
a gene
UKGTN website if your
Price (£) - Please state
whether price is per gene
or for all genes
Prenatal Diagnosis
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Sequencing of the
entire coding region of
a gene PLUS copy
number analysis
Prenatal Diagnosis
Sequencing of selected
exons
Prenatal Diagnosis
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Mutation Scanning
Prenatal Diagnosis
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Targeted mutation
analysis
Prenatal Diagnosis
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Testing for known
mutations in family
members
Prenatal Diagnosis
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Gene Tracking
Prenatal Diagnosis
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Targeted copy number
analysis
Prenatal Diagnosis
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Whole genome analysis
for copy number
imbalance
Prenatal Diagnosis
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Chromosome analysis
for balanced structural
chromosome
rearrangements
Prenatal Diagnosis
Chromosome instability
(breakage) analysis
Prenatal Diagnosis
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Postnatal Diagnosis Routine
Postnatal Diagnosis Urgent
Please state any QA schemes that you
undertake for this disease/condition
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
22
Appendix 2
DECLARATION OF INTEREST
To be completed by Directors/senior staff of the organisation responsible for the laboratory
I ..........................................................…………………………….
wish to declare that I currently have/do not have* interests which are material and relevant to the
UKGTN service or any NHS organisations.
*please delete as appropriate
Interests which are relevant and material are:
1.
Directorships, including non-executive Directorships, held in private companies or PLCs (with
the exception of those of dormant companies)
2.
Ownership or part ownership of private companies, businesses or consultancies likely or
possibly seeking to do business with the NHS
3.
Majority or controlling shareholdings in organisations likely or possibly seeking to do
business with the NHS
4.
A position of trust in a charity or voluntary organisation in the field of health and social care
5.
Any other connection with a voluntary or other organisation contracting for NHS services
My interests are listed below:
Please state ‘nil’ if no interests are to be declared
(Please note that the interest of members spouses or cohabiting partners should also be regarded as relevant)
Signed ................................................
Date
...................................................
Please sign, date and return with your application form to UKGTN Team c/o National Specialised Commissioning
Team, 2nd Floor, Southside, 105 Victoria Street, London , SW1E 6QT
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
23
Appendix 3
Genetic Units (GenUs) system to record laboratory activity
Yellow refers to molecular genetics
Blue refers to cytogenetics
Band
A
GenU
Score
1
General examples



All DNA extractions to include
o extract > test locally
o extract > DNA banking
All RNA extraction
Sample receipt, booking in, and processing of blood sample,
haematological blood/bone marrow sample, PET samples. Covers:
o Sample preparation, setting up of culture(s) and processing of
sample to provide a cell suspension for cytogenetic analyses,
processing of PET samples for FISH
and/or
o DNA extraction and banking for molecular studies
DNA/sample/cell culture export (added to be consistent with molecular)
DNA/cell culture sample export
Cell freezing/storage

Single amplicon (genotyping or sequencing)



A
B
1
2
Specific examples













Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
24
Samples processed for both Cytogenetic and
Molecular Genetic Studies are considered as
separate.
Interpretation/undertaking segregation of results
from another laboratory
Re-issue of report for sample previously tested
(repeat request for same test).
Freezing/storage – this is a one-off charge for
potentially long-term storage
FraX PCR
Haemochromatosis
Factor V
Jak2
HD (diagnostic and predictive tests)
Other triplet disorders where a single PCR is
required (eg SBMA)
Y deletions
FLT3
NPM1
Band
GenU
Score
General examples

C
4
















D
E
7
10

Specific examples
Sample receipt, booking in, and processing of amniotic fluid sample, CV
sample, solid tissue sample, lymph node, tumour sample. Covers:
o sample preparation, setting up of culture(s) and processing of
sample to provide a cell suspension for cytogenetic analyses
Embryo preparation of PGD analysis
Genotyping 2-4 amplicons
Sequencing: Very small gene with 2-4 exons/amplicons
Sequencing: Predictive tests, confirmations and carrier tests
MS-PCR
MLPA with no other test (including DMD)
Prenatal tests to include the MCC
1 lane on Southern
Triplet disorders that require two PCRs (allele specific and TP-PCR)
Aneuploidy (to include 13, 18, 21 and X/Y)
Identity/paternity tests
Direct CVS analysis
Rapid aneuploidy testing for +13, +18 and +21, X/Y (QF-PCR FISH)
Simple FISH test defined as a single interpretative event using commercial
probe/kit
Kit based MLPA
Targeted array CGH follow up studies

Blood, Amniotic fluid, CVS culture, or Solid Tissue G-band constitutional
analysis
Haematological (marrow, blood, lymph node, effusion) or tumour G-band
analysis


5-19 amplicons (MLPA to count as 2 amplicons when part of full screen)
All linkage tests including UPD



Array CGH (whole genome analysis)
Chromosome breakage studies, eg FA, or AT
Combined FISH analysis of probes that must be applied and interpreted
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
25





CF-ARMS, CF-OLA, CF-HT
AS/PWS
FraX if Southern blotted
DM, Friedreich’s ataxia
RT PCR BCR/ABL-1

Includes
slide
making/banding
an
FISH
preparation
 Microdeletion testing
 Break apart probes
 Fusion probes (includes BCR/ABL)
 Post bone marrow transplant XY donor scoring
Targeted array CGH follow up can be by FISH or
aCGH
 Includes slide making and G-banding
 G-band analysis appropriate to referral reason and
if necessary other conventional staining (eg C
band, NOR) to aid interpretation.





Sequencing MECP2
DMD linkage
AS/PWS if linked markers used
Includes processing steps post DNA extraction.
Includes SCE prep and analysis for FA, and
scanning for chromosome 7 and 14
Band
GenU
Score
General examples
Specific examples
together to provide a single diagnostic/prognostic report

F
G
15
25


20-49 amplicons (MLPA to count as 2 amplicons when part of full screen)
50-100 amplicons (MLPA to count as 2 amplicons when part of full screen)
H
40

Over 100 amplicons
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012)
26




rearrangements for AT.
FISH panels typically 2-4 probes eg CLL FISH
panel; most NHL FISH panels; MLL, BCR-ABL &
ETV6-RUNX1 applied to a presentation ALL;
myeloma FISH panel limited to clinically relevant
abnormalities
Sequencing factor 8
Sequencing FBN1
Sequencing BRCA1+BRCA2
Sequencing a group of genes in parallel that
contribute to a single report