The Aga Khan University Hospital
Clinical Laboratories
Cytogenetics Checklist
CAP Accreditation Program
College of American Pathologists
325 Waukegan Road
Northfield, IL 60093-2750
www.cap.org
CAP Number: 3052901
Section/Department: Molecular Pathology
08.21.2017
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Disclaimer and Copyright Notice
On-site inspections are performed with the edition of the Checklists mailed to a
facility at the completion
of the application or reapplication process, not necessarily those currently posted
on the website. The
checklists undergo regular revision and a new edition may be published after the
inspection materials
are sent.
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have been created by the CAP and are copyrighted works of the CAP. The CAP has
authorized copying
and use of the checklists by CAP inspectors in conducting laboratory inspections
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All Checklists are �2017. College of American Pathologists. All rights reserved.
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Cytogenetics Checklist
TABLE OF CONTENTS
SUMMARY OF
CHANGES............................................................................
........................................4
INTRODUCTION.......................................................................
............................................................. 6
LABORATORY
SAFETY.............................................................................
.......................................... 6
QUALITY
MANAGEMENT.........................................................................
............................................6
QUALITY CONTROL
(QC)...............................................................................
.....................................6
SUPERVISION OF QUALITY
CONTROL............................................................................
............................................... 6
REPORTS............................................................................
...................................................................................
............. 7
RECORDS............................................................................
...................................................................................
.............9
REAGENTS...........................................................................
...................................................................................
..........10
INSTRUMENTS AND
EQUIPMENT..........................................................................
........................................................ 11
PROCEDURES AND
TESTS..............................................................................
.................................11
DEFINITIONS........................................................................
...................................................................................
..........12
NUMBER OF CELLS
COUNTED............................................................................
..........................................................13
NUMBER OF CELLS
ANALYZED...........................................................................
..........................................................14
NUMBER OF
KARYOGRAMS.........................................................................
..................................................................15
BAND
RESOLUTION.........................................................................
................................................................................15
IN SITU
HYBRIDIZATION......................................................................
........................................................................... 16
PERSONNEL..........................................................................
..............................................................18
PHYSICAL
FACILITIES.........................................................................
..............................................19
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ON-LINE CHECKLIST AVAILABILITY
Participants of the CAP accreditation programs may download the checklists from the
CAP website
(www.cap.org) by logging into e-LAB Solutions. They are available in different
checklist types and formatting
options, including:
.
Master � contains ALL of the requirements and instructions available in PDF,
Word/XML or Excel
formats
.
Custom � customized based on the laboratory's activity (test) menu; available in
PDF, Word/XML or
Excel formats
.
Changes Only � contains only those requirements with significant changes since the
previous checklist
edition in a track changes format to show the differences; in PDF version only.
Requirements that have
been moved or merged appear in a table at the end of the file.
SUMMARY OF CHECKLIST EDITION CHANGES
Cytogenetics Checklist
08/21/2017 Edition
The information below includes a listing of checklist requirements with significant
changes in the current edition
and previous edition of this checklist. The list is separated into three
categories:
1.
New
2.
Revised:
.
Modifications that may require a change in policy, procedure, or process for
continued
compliance; or
.
A change to the Phase
3.
Deleted/Moved/Merged:
.
Deleted
.
Moved � Relocation of a requirement into a different checklist (requirements that
have been
resequenced within the same checklist are not listed)
.
Merged � The combining of similar requirements
NOTE: The listing of requirements below is from the Master version of the
checklist. The customized checklist
version created for on-site inspections and self-evaluations may not list all of
these requirements.
NEW Checklist Requirements
Requirement Effective Date
CYG.30600 08/17/2016
CYG.31880 08/21/2017
CYG.33950 08/17/2016
REVISED Checklist Requirements
Requirement Effective Date
CYG.31875 08/21/2017
CYG.32700 08/17/2016
CYG.42700 08/17/2016
CYG.42750 08/17/2016
CYG.42775 08/17/2016
CYG.42900 08/17/2016
CYG.43000 08/17/2016
CYG.43200 08/17/2016
CYG.47866 08/17/2016
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CYG.50000
CYG.50180
08/21/2017
08/21/2017
DELETED/MOVED/MERGED Checklist Requirements
Requirement
CYG.47875
CYG.50200
Effective Date
08/16/2016
08/16/2016
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INTRODUCTION
This checklist is used in conjunction with the All Common (COM) and Laboratory
General Checklists to inspect a
cytogenetics laboratory section or department.
Cytogenetics inspectors should be pathologists, cytogeneticists or cytogenetic
technologists who are actively
involved with or have extensive experience in the practice of cytogenetics, are
knowledgeable about current
CAP Checklist and CLIA requirements, and have completed CAP Inspector Training.
Inspectors should, to the
greatest extent possible, be peers of the laboratory being inspected.
Note for non-US laboratories: Checklist requirements apply to all laboratories
unless a specific disclaimer of
exclusion is stated in the checklist.
LABORATORY SAFETY
The inspector should review relevant requirements from the Safety section of the
Laboratory General checklist,
to assure that the cytogenetics laboratory is in compliance. Please elaborate upon
the location and the details of
each deficiency in the Inspector's Summation Report.
QUALITY MANAGEMENT
CYG.20200 Quality Indicators
Phase I
The laboratory monitors and evaluates key quality indicators, such as the
following.
1.
Control of pre-analytic variables (specimen collection and delivery)
2.
Cytogenetic, in situ hybridization, and cytogenomic microarray analysis test
ordering practices
3.
Provision of sufficient clinical information to ensure that the proper choice of
growth medium, probe sets, and analytic techniques are made
CYG.20800 Procedure Failures
Phase II
The number or frequency of culture failures, hybridization failures, and/or
suboptimal
analyses is recorded, and there are records of corrective action when adverse
trends
occur.
QUALITY CONTROL (QC)
SUPERVISION OF QUALITY CONTROL
CYG.30066 Monthly QC Review
Phase II
Quality control data are reviewed and assessed at least monthly by the laboratory
director
or designee.
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NOTE: QC data may include specimen handling, culture failures, new media QC, new
reagent
lot verification, etc. Records of quality control review must include follow-up for
outliers, trends, or
omissions that were not previously addressed.
The QC data for tests performed less frequently than once per month should be
reviewed when
the tests are performed.
Evidence of Compliance:
.
Records of QC review including follow-up for outliers, trends, or omissions
CYG.30325 Reporting Error Investigation
Phase II
All errors that are identified in the final report are thoroughly investigated, and
the results
of such investigations are recorded.
NOTE: The results of such investigations must be recorded and reviewed as part of
the ongoing
laboratory QM process.
CYG.30350 Specimen Handling
Phase II
Records indicate the media used, culture conditions, probes used, and incubation
times
for all preparations.
CYG.30550 QC Confirmation of Acceptability
Phase II
Results of controls are reviewed for acceptability before reporting of patient
results.
NOTE: Controls must be reviewed before reporting patient results. It is implicit in
quality control
that patient test results will not be reported when controls are unacceptable.
Evidence of Compliance:
.
Written policy statement that controls are reviewed and acceptable prior to
reporting patient
results AND
.
Evidence of corrective action taken when QC results are not acceptable
**NEW** 08/17/2016
CYG.30600 Alternative Control Procedures
Phase II
If the laboratory performs test procedures for which control materials are not
commercially available, there are written procedures for an alternative mechanism
to
detect immediate errors and monitor test system performance over time. The
performance
of alternative control procedures must be recorded.
NOTE: "Performance" includes elements of accuracy, precision, and clinical
discriminating
power. Examples of "alternative" procedures may include split sample testing with
another
method or with another laboratory, the testing of previously tested patient
specimens in duplicate,
testing of patient specimens in duplicate, or other defined processes approved by
the laboratory
director.
Evidence of Compliance:
. Written procedures for alternative quality control AND
. Records of alternative control procedures
REPORTS
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CYG.31825 Preliminary Reports Phase I
Provision of preliminary reports (especially verbal, telephone reports) is recorded
on the
final report.
**REVISED** 08/21/2017
CYG.31875 Final Report Elements Phase II
The final reports contain all of the following required elements.
1. Name and address of testing laboratory
2. Patient name
3. Unique identifying number
4. Patient date of birth
5. Name of physician, or authorized person ordering test
6. Specimen source
7. Date specimen received in the laboratory
8. Date of report
9. Clinical indication(s) for the test
10. Number of cells counted, analyzed, and karyograms prepared, as applicable
11. Band resolution (required only for constitutional cases), as applicable
12. Banding methods, as applicable
13. Comment on adequacy of specimen, if indicated
NOTE: Items 10, 11, and 12 above apply to conventional (G-banded) analyses.
**NEW** 08/21/2017
CYG.31880 Report Sign-off Phase II
The final report for conventional cytogenetics (G-banding) and metaphase FISH
analyses
are reviewed and signed by the cytogenetics section director (or qualified
cytogeneticist
designated by the section director).
NOTE: A qualified designee must be: 1) a doctor of medicine or doctor of osteopathy
licensed
to practice medicine in the state in which the laboratory is located; or 2) hold an
earned doctoral
degree in a biological science or clinical laboratory science from an accredited
institution.
In addition, each qualified cytogeneticist must have either a) successfully
completed an
accredited fellowship with an emphasis on clinical cytogenetics, or b) in the
absence of fellowship
training, have four years of training or experience or both in human medical
genetics or
pathology, two of which have been in clinical cytogenetics.
CYG.31903 Chromosomal Analysis - Reports Phase II
Reports of cytogenetic tests are available within the time limits listed below in
at least
90% of cases (the term "days" as used below means calendar days):
1. Preliminary report (verbal or written), STAT chromosomal analyses: three days
2. Final report, STAT chromosomal analyses: seven days
3. Final report, amniotic fluid and chorionic villi analyses: 14 days
4. Final report, non-neoplastic blood analyses: 28 days
5. Final report, neoplastic blood and bone marrow analyses: 21 days
6. Final report, non-neoplastic fibroblast analyses: six weeks
NOTE: The definition of a STAT test must be defined in the laboratory policy. In
consultation
with the requesting physician, the patient's specimen may be removed from STAT
classification.
The turnaround time (TAT) expectation for that specimen would then revert to
"routine" for the
specimen type.
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Evidence of Compliance:
. Written policy for TAT of preliminary and final reports on STAT chromosomal
analyses AND
. Record of TAT statistics
CYG.32071 Final Report Contents Phase II
The final report includes a summary of the results and an interpretation that
includes
correlation of the cytogenetic results with clinical information and previous
studies, when
appropriate.
NOTE: The interpretation must be written to facilitate understanding by a non-
geneticist.
CYG.32100 Nomenclature Phase II
For conventional cytogenetic studies, the current International System for Human
Cytogenetic Nomenclature (ISCN) is used correctly in the final report.
NOTE: The purpose is to provide universal interpretation of cytogenetic results
without pictures of
the karyogram.
CYG.32250 Recommendations in Final Report Phase I
The final report contains recommendations for genetic consultation or additional
studies,
when appropriate.
RECORDS
CYG.32500 Laboratory Record Information Phase II
The laboratory record includes the number of cells counted, analyzed
microscopically and
the number from which photographic or digitized karyograms were prepared.
**REVISED** 08/17/2016
CYG.32700 Material Retention Phase II
Materials are retained in compliance with applicable laws and regulations and as
follows:
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Type of Record/Material Retention Period
Original specimen and cultures Until release of the final report
Processed specimens or cell pellets 2 weeks after final report
Permanently stained slides 3 years
Fluorochrome-stained slides At the discretion of the laboratory director
Cytogenomic array slides At the discretion of the laboratory director
Images or permanent slides of ISH studies 10 years for neoplastic disorders
- (hard copy negatives or prints) and/or in 20 years for non-
neoplastic/constitutional
retrievable digitized formats disorders
(see NOTE 3 below)
Cytogenomic array data Original scan for at least two weeks after the
final report is released
Sufficient original data to support the final report
(e.g. the feature extracted data file) for 20 years
Final Report (electronic versions are 10 years for neoplastic disorders
acceptable) 20 years for constitutional conditions
NOTE 1: The intent is to maintain evidence of case results for any future need,
such as further
family studies, monitoring disease, legal issues, etc.
NOTE 2: Because information technology software and hardware continues to change,
access
to some digitally archived material may be lost. However, reasonable due diligence
should be
exercised to maintain access for the full retention period.
NOTE 3: For an ISH assay with a normal result, retain an image of at least one cell
illustrating
the normal probe signal pattern. For an ISH assay with an abnormal result, retain
images of at
least two cells illustrating each relevant abnormal probe signal pattern.
NOTE 4: There is no retention requirement for images of slide preparations when the
source
slides remain readable for the required retention period.
Evidence of Compliance:
. Written record and specimen retention policies
REAGENTS
Additional requirements are in the REAGENTS section of the All Common Checklist.
CYG.33300 Media QC Phase II
Each lot of culture medium is checked onsite for sterility and the ability to
support growth.
NOTE: Each laboratory must perform its own QC on new lots of culture media. It is
not
acceptable practice to rely on QC testing performed at another site.
Evidence of Compliance:
. Written media QC procedure AND
. Records of media checks and actions taken when media is unsuitable
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INSTRUMENTS AND EQUIPMENT
The checklist requirements in this section should be used in conjunction with the
requirements in the All
Common Checklist relating to instruments and equipment.
CYG.33700 Gas-Dependent Equipment Phase II
All gas-dependent equipment (e.g. incubators) is monitored and the gas
concentration is
recorded each day of use, with records of corrective action when values fall
outside the
acceptable range.
NOTE: Gas concentrations in equipment using modified atmospheres must be monitored
and
recorded on each day of use. External methods of monitoring (e.g. Fyrite) must be
performed
monthly and recorded.
The two acceptable ways of recording gas levels are: 1) recording the numerical
value, or 2)
placing a mark on a graph that corresponds to a numerical value (either manually,
or using
a graphical recording device). The identity of the individual recording the gas
levels must be
documented (recording the initials of the individual is adequate).
The use of automated (including remote) gas monitoring systems is acceptable,
providing
that laboratory personnel have immediate access to the monitoring data, so that
appropriate
corrective action can be taken if the recorded values are out of the acceptable
range. There must
be records showing daily functionality of the system.
CYG.33900 Biological Safety Cabinet Phase II
The biological safety cabinet (sterile hood) is certified annually to ensure that
filters are
functioning properly and that airflow meets specifications.
NOTE: All cell cultures must be manipulated under conditions that ensure sterility
and that
protect the technologists. A sterile, biologic containment hood whose function is
certified annually
is required.
Evidence of Compliance:
. Maintenance schedule of BSC function checks AND
. Records of testing and certification
**NEW** 08/17/2016
CYG.33950 ISH Slide Processing System Temperature Checks Phase II
Individual slide slots (or a representative sample thereof) of in situ
hybridization (ISH)
temperature controlled slide processing systems are checked for temperature
accuracy
before being placed in service and at least annually thereafter.
Evidence of Compliance:
. Written procedure for verification of temperature accuracy AND
. Records of equipment verification
PROCEDURES AND TESTS
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CYG.40000 Culture - Amniotic Fluid and Chorionic Villus
Phase II
Amniotic fluid and chorionic villus cultures are split between two incubators with
independent electrical circuits or emergency power systems, backup gas sources, and
emergency alarms.
NOTE: If such arrangements are not feasible, a written protocol must ensure
necessary growth
requirements for all cultures and protection from power failures.
Evidence of Compliance:
.
Written procedure for incubation of independent cultures using separate incubators
with
separate back-up systems/sources OR procedure describing an alternative method to
ensure
protection from power failures
CYG.40100 Culture - All Specimen Types
Phase II
Duplicate or independently established cultures are prepared for all specimen
types,
whenever possible.
NOTE: The intent is to provide backup cultures in the event of failures due to
contamination,
technical error and other problems, as well as providing the best opportunity to
verify true
mosaicism and maternal cell contamination.
In cancer studies, the clonal abnormality may be identified in only one culture
system. The
procedure manual should specify a prioritization scheme for what culture systems
shall be set
up when the sample volume or cellularity is insufficient to set up all cultures
according to the
laboratory's routine.
Evidence of Compliance:
.
Written procedure for the preparation of back-up cultures for all specimens
CYG.40200 Harvesting - Amniotic Fluid and Chorionic Villus
Phase II
Duplicate amniotic fluid and chorionic villus flasks or dishes are harvested
independently.
NOTE: To prevent failures due to contamination or technical error, all cultures
from a patient
should not be harvested in the same batch.
Evidence of Compliance:
.
Written procedure for harvesting of amniotic fluid and chorionic villus
flasks/dishes
DEFINITIONS
The following definitions of terms are offered as a guide to inspectors and
laboratories:
ANALYZED CELLS: banded metaphase cells in which the individual chromosomes are
counted and evaluated
in their entirety, either at the microscope or from intact digitized images or
photographic prints.
COUNTED CELLS: the number of metaphase cells evaluated for chromosome number.
KARYOGRAM: the cutout and paired chromosomes from a photograph or the arranged
computer-generated
image.
SCORED CELLS: cells assessed for the presence or absence of a specific cytogenetic
feature, usually
indicated either by a particular clinical history or by the finding of one or two
abnormal cells during the course
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of a study. Numbers of cells to be scored is to be defined in the laboratory
policy, in compliance with specific
checklist requirements.
CELL LINE/CLONE: a population of cells with the same chromosome complement.
Chromosome gain
and structural aberrations are clonal when the gain or structural aberration is
present in two or more cells.
Chromosome loss is clonal when it is present in three or more cells. (ISCN).
STEMLINE CLONE: The stemline is the most basic clone of a tumor cell population.
SIDELINE CLONE (SUBCLONE): a population of cells with one or more of the same
chromosome abnormalities
seen in the stemline clone, but which has additional abnormalities not found in the
stemline clone.
COLONY: a discrete focus of cells that is harvested and stained while attached to
the cell culture growth
substrate.
NUMBER OF CELLS COUNTED
CYG.40500 Counting - Stimulated Blood Samples Phase II
For stimulated blood samples (non-neoplastic disorders), at least 20 cells are
counted
with the exception of abbreviated studies.
NOTE: Under special clinical circumstances, fewer than 20 cells may be counted. The
laboratory
must have written criteria for the circumstances under which an abbreviated study
can be
performed. Criteria should address the rationale for such studies, the clinical
reason for referral,
and the minimum number of cells counted.
Evidence of Compliance:
. Written policy defining number of cells to be counted for each cytogenetic sample
type AND
. Patient records/worksheets
CYG.40600 Counting - Amniotic Fluid or Chorionic Villus (in situ) Samples Phase II
For amniotic fluid or chorionic villus (in situ) samples, at least 15 cells from 15
different
colonies are counted, with cells from at least two cultures, with the exception of
abbreviated studies.
NOTE: The number of cells counted should be distributed as equally as possible
between
independently established cultures. Under special circumstances, fewer than 15
cells may
be counted. The laboratory must have written criteria for the circumstances under
which an
abbreviated study can be performed. Criteria should address the rationale for such
studies, the
clinical reason for referral, and the minimum number of cells counted.
Evidence of Compliance:
. Written policy defining number of cells to be counted for each cytogenetic sample
type AND
. Patient records/worksheets
CYG.40700 Counting - Amniotic Fluid or Chorionic Villus Culture (Non-in-situ) Phase
II
For any non-in-situ amniotic fluid cell or chorionic villus culture (i.e.
trypsinized culture),
at least 20 cells are counted, with cells from at least two cultures (this may
include any
combination of in-situ and non-in-situ cultures), with the exception of abbreviated
studies.
NOTE: The number of cells counted should be distributed as equally as possible
between
independently established cultures. Under special clinical circumstances, fewer
than 20 cells
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may be counted. The laboratory must have written criteria for the circumstances
under which an
abbreviated study can be performed. Criteria should address the rationale for such
studies, the
clinical reason for referral, and the minimum number of cells counted.
Evidence of Compliance:
. Written policy defining number of cells to be counted for each cytogenetic sample
type AND
. Patient records/worksheets
CYG.40900 Counting - Solid Tissue Samples
Phase II
For solid tissue samples (non-neoplastic), at least 20 cells are counted with the
exception
of abbreviated studies.
NOTE: Under specific clinical circumstances, fewer than 20 cells may be counted
(e.g. for
confirmation of an abnormal prenatal chromosome result). The laboratory must have
written
criteria for the circumstances under which an abbreviated study can be performed.
Criteria
should address the rationale for such studies, the clinical reason, and the minimum
number of
cells counted.
Evidence of Compliance:
. Written policy defining number of cells to be counted for each cytogenetic sample
type AND
. Patient records/worksheets
NUMBER OF CELLS ANALYZED
Analyses should be performed from two independent cultures, if possible.
CYG.41100 Analysis - Non-neoplastic Samples
Phase II
A minimum of five cells, with the exception of abbreviated studies, are analyzed.
NOTE: Under special clinical circumstances, fewer than five cells may be analyzed.
Examples of
such circumstances are confirmation of an abnormal prenatal chromosome result, in
conjunction
with cytogenomic microarray analysis, or peripheral blood chromosome studies on
family
members to exclude a previously identified chromosome rearrangement. The laboratory
must
have written criteria for the circumstances under which an abbreviated study can be
performed.
Criteria should address the rationale for such studies, the clinical reason for
referral, and the
minimum number of cells analyzed.
Evidence of Compliance:
.
Written policy defining number of cells to be counted and analyzed for each
cytogenetic
sample type AND
.
Patient records/worksheets
CYG.41500 Analysis - Neoplastic Samples
Phase II
For neoplastic disorders studied in marrow, blood or solid tumor specimens, at
least 20
cells are analyzed, if possible.
NOTE: Under special clinical circumstances, fewer than 20 cells may be analyzed in
lymphomas,
solid tumors, and metastatic neoplasms with complex karyotypes. A sufficient number
of
metaphase cells (generally at least 10) should be analyzed to permit
characterization of the
abnormal clone(s). The circumstances under which abbreviated studies may be
performed must
be stated in the laboratory procedure.
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Evidence of Compliance:
. Written policy defining number of cells to be analyzed for each cytogenetic
sample type AND
. Patient records/worksheets
CYG.41550 Analysis - Neoplastic Samples
Phase I
For neoplastic bone marrow/blood/solid tumor specimens, two or more cultures are
analyzed, when possible.
NOTE: For neoplastic bone marrow/blood/solid tumor specimens, cells from two or
more culture
conditions are analyzed, when possible.
Evidence of Compliance:
.
Written policy defining number of culture conditions to be analyzed for each
cytogenetic
sample type AND
.
Patient records/worksheets
NUMBER OF KARYOGRAMS
CYG.41600 Karyograms per Case
Phase II
There is a minimum of two karyograms per case, with at least one karyogram per cell
line,
for the following specimen types.
1.
PHA-stimulated blood cells
2.
Amniotic fluid (in situ or flasks)
3.
Chorionic villus
4.
Solid tissue (non-neoplastic)
NOTE: For abbreviated studies, a minimum of one karyogram is required. Examples of
such
circumstances are confirmation of an abnormal prenatal chromosome result, or
peripheral
blood chromosome studies on family members to exclude a previously identified
chromosome
rearrangement. The laboratory must have written criteria for the circumstances
under which an
abbreviated study can be performed. Criteria should address the rationale for such
studies, the
clinical reason for referral, and the minimum number of karyograms.
Evidence of Compliance:
.
Written policy defining number of karyograms per case for each specimen type
CYG.42000 Karyograms - Neoplastic Disorders
Phase II
For neoplastic disorders studied in marrow, blood or solid tumor specimens, there
are at
least two karyograms per stemline, one karyogram from each sideline (subclone) and
one
karyogram of a normal cell (if observed in the analysis).
Evidence of Compliance:
.
Written policy defining number of karyograms for neoplastic disorder studies in
bone marrow/
blood/solid tissue
BAND RESOLUTION
CYG.42200 Band Level - Constitutional Cases
Phase II
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The band level for constitutional cases is at least at the 400-band level of
resolution.
NOTE: Constitutional cases must be banded at least at the 400-band level
(International System
for Human Cytogenetic Nomenclature - ISCN).
Evidence of Compliance:
. Written policy on band resolution
CYG.42300 Band Level - Blood Samples Phase II
At least the 550-band level of resolution is achieved in appropriate blood samples.
NOTE: The 550-band level is the minimum goal of all such studies, particularly in
cases of
developmental delay/intellectual disability, dysmorphology and birth defects.
Evidence of Compliance:
. Written policy on band resolution
CYG.42400 Banding and Resolution Phase II
The quality of banding and resolution is sufficient to render the reported
interpretation.
IN SITU HYBRIDIZATION
The use of the term in situ hybridization (ISH) in this section applies to all ISH
methods, including fluorescence
(FISH), chromogenic (CISH), silver (SISH), and brightfield (BRISH) in situ
hybridization.
**REVISED** 08/17/2016
CYG.42700 ISH Probe Validation Phase II
There are policies, procedures, and records of validation of all in situ
hybridization (ISH)
probes.
NOTE: Refer to CYG.48399 for specific validation requirements for HER2 testing in
breast
carcinoma. Additional requirements for test method validation are in the All Common
Checklist.
Evidence of Compliance:
. Written procedure for validation of ISH probes
**REVISED** 08/17/2016
CYG.42750 ISH Assay Performance Phase I
There are records of in situ hybridization (ISH) performance for each assay.
NOTE: Assay performance should include monitoring hybridization efficiency, probe
signal
intensity and overall assay results, including controls, as applicable.
Evidence of Compliance:
. Written procedure defining acceptance criteria for ISH assay performance AND
. Records of QC monitoring of ISH assay performance at defined frequency
**REVISED** 08/17/2016
CYG.42775 New Reagent Lot - ISH Probes Phase II
Each lot of in situ hybridization (ISH) probe(s) is checked for acceptable
performance.
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Evidence of Compliance:
. Written procedure for the verification of new lot of ISH probes prior to use AND
. Records of verification
**REVISED** 08/17/2016
CYG.42900 Interphase ISH - Cut-off Value Phase II
For interphase in situ hybridization (ISH), the laboratory establishes a normal
cut-off value
for results for each probe used, when applicable.
NOTE: Refer to the All Common Checklist for specific test method validation
requirements. Cutoff
values are usually required when ISH testing uses locus-specific probes against
nuclear DNA.
Evidence of Compliance:
. Written procedure for establishing normal cut-off values AND
. Records from cut-off value studies
**REVISED** 08/17/2016
CYG.43000 ISH Scoring Phase II
When applicable, there are written procedures for scoring in situ hybridization
(ISH)
results, including the number of cells scored, and all analyses are scored
according to
these procedures.
NOTE: Refer to CYG.49465 for specific requirements on the scoring criteria for HER2
testing in
breast carcinoma.
**REVISED** 08/17/2016
CYG.43200 ISH Controls Phase II
Controls (internal and/or external) are used and recorded for each in situ
hybridization
(ISH) analysis.
NOTE: What functions as a control depends on the specific assay, signal pattern
present, and
sample type. For example, assays designed to detect deletions may use internal
controls that
include both the probe of interest and a control locus probe, both of which map to
the same
chromosome. In this situation, there are two internal controls, the signal for the
probe of interest
on the normal homolog and the control locus signals on both the normal and deleted
homolog.
For a dual fusion assay, the probe signals on each of the normal homologs function
as internal
controls. If a probe is used that does not produce an internal control signal (e.g.
a Y chromosome
probe in a female) another sample that is known to have the probe target must be
run in parallel
as an external control with the patient sample. In addition, many ISH assays use an
external
control(s). For FDA-cleared or approved ISH assays, laboratories must follow
manufacturer's
instructions for quality control at minimum.
Evidence of Compliance:
. Written policy defining use of control loci with each ISH analysis AND
. Records of QC results
CYG.43250 ISH Probe Intended Target Phase I
There is a system in place to ensure that the in situ hybridization (ISH) probe
used is for
the intended target.
NOTE: Examples can include (but are not limited to): 1) concurrent analysis of any
available
metaphase cells in an interphase cell analysis; 2) inclusion of an internal or
external target that
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results in a positive signal for each hybridization; 3) written protocols that
ensure the respective
probe is applied to the intended specimen.
Evidence of Compliance:
. Written policy defining the system for ensuring use of the appropriate ISH probe
AND
. Records confirming intended target
CYG.46799 Modified FDA-Cleared/Approved Assay Phase II
If the laboratory modifies an FDA-cleared/approved assay, the modified procedure
has
been validated to yield equivalent or superior performance.
Evidence of Compliance:
. Records of validation studies for modified FDA-cleared/approved assays
**REVISED** 08/17/2016
CYG.47866 ISH Interpretation Phase II
If an in situ hybridization (ISH) study requires consultation with a pathologist
and/or a
cytogeneticist for accurate interpretation, the appropriate expert is consulted and
their
involvement is recorded.
PERSONNEL
NOTE: For purposes of CAP accreditation, the "laboratory director" is that
individual who oversees all sections
of the laboratory, and in whose name accreditation is granted. Specific
requirements for that person are found in
the Director Assessment Checklist. The section director (technical supervisor)
refers to the person responsible
for the medical, technical and/or scientific oversight of the cytogenetics
laboratory section.
**REVISED** 08/21/2017
CYG.50000 Section Director/Technical Supervisor Qualifications Phase II
The cytogenetics laboratory has a qualified physician or doctoral scientist as
section
director/technical supervisor.
NOTE: The section director/technical supervisor of the cytogenetics laboratory must
1) be a
doctor of medicine, doctor of osteopathy licensed to practice medicine in the state
in which the
laboratory is located; or 2) hold an earned doctoral degree in a biological science
or clinical
laboratory science from an accredited institution.
In addition, the section director must have either a) successfully completed an
accredited
fellowship with an emphasis on clinical cytogenetics; or b) in the absence of
fellowship training,
have four years of training or experience, or both, in human medical genetics or
pathology, two of
which have been in clinical cytogenetics.
If more stringent state or local regulations are in place for supervisory
qualifications, including
requirements for state licensure, they must be followed.
For laboratories not subject to US regulations, the section director may be either
a doctor of
medicine or have a doctoral degree in an appropriate science. In either case, the
individual must
have four or more years of fulltime general laboratory training and experience, of
which at least
two years were in clinical cytogenetics.
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Evidence of Compliance:
.
Records of section director/technical supervisor qualifications including diploma,
transcript(s),
primary source verification report, equivalency evaluation, board certification, or
current
license (if required) AND
.
Records of work history in related field
**REVISED** 08/21/2017
CYG.50180 Cytogenetics General Supervisor Qualifications
Phase II
The cytogenetics general supervisor has at least a bachelor's degree in a chemical,
physical, biological, or clinical laboratory science or medical technology with at
least
two years of experience in clinical cytogenetics under a qualified director (as
defined in
CYG.50000).
Evidence of Compliance:
.
Records of qualifications including diploma, transcript(s), primary source
verification report,
equivalency evaluation, board certification, or current license (if required) AND
.
Records of work history in related field
PHYSICAL FACILITIES
Utilities should be adequate for the overall workload of the cytogenetics section,
and must meet all safety
requirements.
CYG.61400 Climate Control
Phase I
Ambient temperature and humidity are maintained within a defined and acceptable
range
to facilitate optimal chromosome spreading.
Evidence of Compliance:
.
Temperature and humidity records in the slide preparation area
