Download Application for laboratory to join the

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 South East Commissioning Support Unit (SECSU)
15 Marylebone Rd
London
NW1 5JD
e-mail: [email protected]
Tel:
020 3350 4999
Fax: 020 3350 4458
Please refer to the ‘Process and Criteria for UKGTN Laboratory Membership as a
Diagnostic or Technical Service Provider’ document before completing this application
form.
Date of application
What type of UKGTN membership is being applied for:
a) Diagnostic membership
Yes/No
b) Technical membership
Yes/No
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, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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.
Name of Lead NHS
commissioner for the
service
Email address
Commissioning
organisation e.g. NHS
England specialised
commissioning hub or
CCG
Name and email
address for NHS
Contracts lead in the
owning organisation
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
2
APPLICANTS MUST COMPLY WITH THE FOLLOWING MANDATORY
REQUIREMENTS PRIOR TO MAKING AN APPLICATION
UKGTN requires laboratories applying for diagnostic category status to be accredited by
either CPA/UKAS or to be accredited to ISO15189.
Laboratories applying as technical members need to be accredited to ISO17025.
Instructions for completion

Applications for diagnostic membership where the laboratory has full
CPA/UKAS or is accredited to ISO15189, please complete:
Section A
Appendx 1 Notification of tests laboratory wishes to offer
Appendix 2 Declaration of Interests

Applications for technical provider membership where the laboratory is
accredited with ISO17025 please complete:
Section B
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, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
3
Section A – to be completed by applicants with full CPA/UKAS
accreditation or accredited to ISO15189 and applying for diagnostic
provider status
1.1
Accreditation
Is the laboratory accredited with CPA? Yes/No (if Yes please go to question 1.2)
Is the laboratory accredited to ISO15189? Yes/No (if Yes please go to question 1.3)
1.2
Accreditation – CPA
What is the CPA reference number?
What is the CPA discipline?
When was the last inspection?
Were all the tests that are being proposed
for service (appendix 1) declared at the
time of the last inspection using the current
methodology?
Yes/No
If no please provide details here;
Accreditation – ISO
1.3
What is the ISO certification number?
What is the date on the most recent
schedule of accreditation?
Were all the tests that are being proposed
for service (appendix 1) declared at the
time of the last inspection using the current
methodology?
2.



3.
Yes/No
If no please provide details here;
Reporting times
Please complete the proforma in appendix 1, please make a copy of the blank form and
use a separate form for each test to be offered on the network stating:
the levels of service offered (e.g. mutation screening / confirmation of known mutations /
gene tracking / prenatal etc),
reporting times (in calendar days) for both urgent and non-urgent referrals and
percentage compliance to the reporting times for the last full financial year prior to
application.
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.
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
4
3.1
3.2
Association for Clinical Genetics Science (ACGS)
Please indicate whether or not you return audit data to the ACGS:
Yes/No
Laboratory report activity data
Service area: Cytogenetic
Please provide 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.
GenU Band
Number of Samples / Reports
Please DO NOT multiply number of reports by weight
A
(sample prep)
A
(liquid nitrogen storage and/or cell export)
B
C
D
E
F
G
NOT APPLICABLE
H
NOT APPLICABLE
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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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.
GenU Band
Number of Samples
A
(all DNA/RNA extractions for service work)
A
(extract for research only exclude GeL work)
A
(extract for GeL work only)
A
(sample export)
A
(return of paraffin blocks)
Number of Molecular Genetic Reports provided in each band
GenU
Band
Inherited / Sporadic
disorders
(excluding NGS
panels but including
single gene tests
that use NGS
technology)
B
C
NOT APPLICABLE
D
Inherited /
Sporadic
disorders
NGS PANELS
ONLY
NOT
APPLICABLE
NOT
APPLICABLE
NOT
APPLICABLE
Acquired disorders
(excluding NGS
panels)
NOT APPLICABLE
Acquired
disorders
NGS PANELS
ONLY
NOT
APPLICABLE
NOT
APPLICABLE
NOT
APPLICABLE
E
F
G
H
3.3
Resident postcodes for reports issued
Please provide an estimate of the proportion of reports in which the resident postcode
has been provided for reports issued in the last most recent financial year.
%
Please confirm if the data on resident postcodes and/or dates of birth/NHS numbers for
every report where the laboratory did the analysis is easily extracted to an Excel spread
sheet for submission to NHS Digital for the UKGTN Review of Genetic Testing rates as
described in the Data Provision Notice
https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/522519/Da
ta_Provision_Notice__Genetic_Testing_rates.pdf
Yes/No
NHS England has issued Directions for NHS Digital to collect this data and it is a
legal requirement for all UKGTN member laboratories to submit this data on an
annual basis. If you are unable to do this please contact the UKGTN team before
continuing any further with this application.
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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4.
Clinical environment
The applicant laboratory needs to demonstrate that the laboratory 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.
In the box below, 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
Links to University Departments
In the box below, please give details of University Departments or others with whom you
have research links (expand the box as required).
5.2
Collaborations resulting in diagnostic testing services
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 (expand the box as required).
5.3
New techniques/technologies
Please specify any new techniques/technologies 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(expand the box as required).
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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5.4
Current research projects
Please list current research projects/collaborations and how they are funded.
Current research
projects/collaborations
Description of how project/collaboration is funded
5.5
Publications
Please list the publications that your laboratory contributed to in the last financial year
6.
Dissemination of information on availability of services
It is mandatory for the applicant laboratory to complete UKGTN audit/activity reviews as
required and I agree to provide information when requested.
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 update the test information provided for this laboratory on the UKGTN website.
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 understand that if I do not provide information when requested that UKGTN membership
may be removed.
Signed:
Name (print):
Position:
Date:
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
8
Section B – to be completed by applicants applying to be Technical
Providers and accredited to ISO17025
1.
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.
1.1
EQA schemes
In the box below (expand as required) please list the external quality assurance schemes
in which you participate.
1.2
Performance with EQA
Have you been contacted by a Scheme Organiser with regard to persistent poor
performance in the last 12 months? Yes/No
If yes, in the box below (expand as required), please provide details.
2.
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.
In the box below (expand as required) please provide details of the support 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, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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3.
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.
3.1
Staffing Structure
For NHS organisations
Please provide in a separate document the staffing structure (details as at April 1st of the
year of application) and indicate the Agenda for Change band for each position and
whether or not the current post holder is HCPC registered.
For non-NHS organisations
Please provide in a separate document the staffing structure (details as at April 1st of the
year of application) and indicate whether the current post holder for each position is
HCPC registered.
3.2
Staffing absence
In the box below (expand as required) please describe how you deal with vacancies,
maternity/long and short term sick leave, holidays and training.
3.3
Major incidents
In the box below (expand as required) please describe how you plan for technical failures
and major incidents.
3.4
Sample storage
In the box below (expand as required) please describe the facilities that you have for
long-term storage of samples and your policy for long term storage.
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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4.
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.
4.1
Technical
In the box below (expand as required), please describe the support you have in place to
deal with technical trouble shooting
4.2
Scientific
In the box below (expand as required), 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.
5.
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 Technical Service Providers.
5.1
Links to University Departments
In the box below, please give details of University Departments or others with whom you
have research links (expand the box as required).
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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5.2
Collaborations resulting in diagnostic testing services
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 (expand the box as required).
5.3
New techniques/technologies
Please specify any new techniques/technologies 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(expand the box as required).
5.4
Current research projects
Please list current research projects/collaborations and how they are funded.
Current research
projects/collaborations
5.5
Description of how project/collaboration is funded
Publications
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, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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6.
Responsibility of service
6.1
Chain of responsibility
In the box below (expand as required), please identify the chain of responsibility for any
errors.
6.2
Legalities
In the box below (expand as required), 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.
6.3
Sub contracting
In the box below (expand as required), please identify the lines of responsibility for
subcontracting and provide information on any arrangements that are in place for subcontracting to another provider.
7.
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.
7.1
List of tests to be provided
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.
7.2
Tests already provided to UKGTN Diagnostic Laboratories
In the box below (expand as required), please list any tests that are already being
provided to UKGTN Diagnostic Laboratories by stating the name of the test and the
laboratories that are using these services
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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8.
Dissemination of information on availability of services
It is mandatory for the applicant laboratory to complete UKGTN audit/activity reviews as
required and I agree to provide information when requested.
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 understand that if I do not provide information when requested that UKGTN membership
may be removed.
Signed:
Name (print):
Position:
Date:
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
14
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. Please complete a separate form for each test – make copies as required.
Service levels
Qualifiers
Sequencing of the entire
coding region of a gene
Reporting
time
target
(Calendar
days)
Percentage of
tests that met
Reporting time
target in last full
financial year prior
to application
Price (£) -
Price Note
Please state
whether price is
per gene or for all
genes
Please provide notes
e.g. if price is per gene
or per combination of
genes.
To specify genes
please list symbols e.g.
BRCA1&BRCA2
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
Non Invasive Pre Natal
Diagnosis
Prenatal Diagnosis
Please tick the QA schemes that are undertaken for this test:
UKNEQAS (Disorder specific)
EMQN (Disorder specific)
No EQA scheme available
Not participating
Accredited Generic Technical Scheme
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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Appendix 2
DECLARATION OF INTEREST
To be completed by Directors/senior staff of the organisation responsible for the laboratory
I ..........................................................…………………………….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 Sout East Commissioning Support Unit
(SECSU) 15 Marylebone Rd London NW1 5JD
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar
2016, revised October 2016)
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Appendix 3
Genetic Units (GenUs) system to record laboratory activity – 2016 version. Further advice on how to use the GenUs system is
available from the UKGTN website at http://ukgtn.nhs.uk/our-work/ukgtn-reportsguidelines/genetic-units-genus/
Note internal transport of DNA/cell culture samples between co-located laboratories should not be counted as exports
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 all sample types. 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, DNA extraction
Specific examples




A
1
B
2



DNA/cell culture sample export
Cell freezing/storage – long term liquid nitrogen storage
Single amplicon (genotyping or sequencing)


Embryo preparation of PGD analysis
FISH only testing for constitutional or acquired samples with a single
FISH hybridisation as the only test
Follow up FISH testing for all sample types with a single FISH
hybridisation as the only test















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).
Proband samples processed as a positive control
for other family members
An additional A is counted for any exports only of DNA or cell cultures
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
Only includes preparation for testing.
A single hybridisation can include two informative probes e.g. ATM/TP53
combination probe
Follow up of microarray findings using a single FISH probe
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar 2016, revised October 2016)
17
Band
C
GenU
Score
4
General examples
Specific examples












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)
Identity/paternity tests
Direct CVS analysis
Rapid aneuploidy testing for +13, +18 and +21, X/Y (QF-PCR FISH)
Follow up testing all sample types by karyotype, FISH, MLPA, targeted
array and FISH (if 2-4 hybridisations)
Kit based MLPA
FISH only testing for constitutional or acquired samples with 2-4 FISH
hybridisations
Postnatal constitutional whole genome screen by karyotyping or array
analysis without a rapid aneuploidy pre-screen includes. This includes
any additional conventional staining or FISH tests requested/required
including confirmation of array findings, if required, for the proband





CF-ARMS, CF-OLA, CF-HT
AS/PWS
FraX if Southern blotted
DM, Friedreich’s ataxia
RT PCR BCR/ABL1


Includes slide making/banding and FISH preparation for all probe types
Parental follow up samples: any method NB. proband sample acts as a
positive control
E.g. CLL FISH panel
Haematology monitoring samples included as follow up


5-19 amplicons (MLPA to count as 2 amplicons when part of full screen)
All linkage tests including UPD

Prenatal constitutional whole genome screen by karyotyping or array
analysis without a rapid aneuploidy pre-screen includes any additional
conventional staining or FISH tests requested/required including array
confirmation for the proband
Postnatal constitutional whole genome screen by karyotyping or array
analysis including a rapid aneuploidy pre-screen test. This includes any
additional conventional staining or FISH tests requested/required.
Includes confirmation of array findings, if required, for the proband
Chromosome breakage studies, eg FA, or AT






D
E
7
10











Includes slide making and G-banding and processing steps post DNA
extraction.
Covers blood and solid tissue referrals
G-band analysis appropriate to referral reason and if necessary other
conventional staining (eg C band, NOR) to aid interpretation.
Sequencing MECP2 by Sanger or NGS
DMD linkage
AS/PWS if linked markers used
Includes SCE prep and analysis for FA, and scanning for chromosome 7
and 14 rearrangements for AT.
Transformed/relapse category includes those where a full analysis on the
sample is required.
Postnatal covers blood and solid tissue referrals
Includes long term culture, slide making and G- banding and processing
steps post DNA extraction
Rapid aneuploidy testing for +13, +18 and +21, X/Y (QF-PCR FISH)
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar 2016, revised October 2016)
18
Band
GenU
Score
General examples


F
15


G
25

H
40



Specific examples
Diagnostic, transformed or relapsed Haematological (marrow, blood,
lymph node, effusion) or tumour whole genome screen by karyotyping
or array analysis includes any additional conventional staining or FISH
tests requested/required.
Haematological FISH only testing 5-19 hybridisations
20-49 amplicons (MLPA to count as 2 amplicons when part of full
screen)
Prenatal constitutional whole genome screen by karyotyping or array
analysis including a rapid aneuploidy pre-screen test. This includes any
additional conventional staining or FISH tests requested/required.
Includes confirmation of array findings, if required.
50-100 amplicons (MLPA to count as 2 amplicons when part of full
screen)

Sequencing factor 8 by Sanger or NGS


Includes long term culture, slide making and G- banding and processing
steps post DNA extraction
Rapid aneuploidy testing for +13, +18 and +21, X/Y (QF-PCR FISH)


Sequencing FBN1
Sequencing BRCA1+BRCA2
1-50 genes analysed by NGS
Over 100 amplicons
51-500 genes analysed by NGS



Sequencing 12 genes for Noonan Spectrum Disorders
Sequencing a group of genes in parallel that contribute to a single report
Sequencing 105 genes for Retinal Degeneration
Aug 2006 (revised Sept 2007, revised Oct 2009, revised Oct 2012, revised Jan 2014, revised Jun 2014, revised Mar 2016, revised October 2016)
19