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== Link to Original Publication ==

== Link to Original Publication ==

Genet Med. 2016 Jun;18(6):643-8. doi: 10.1038/gim.2016.51. Epub 2016 Apr 28.

Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities.

Genet Med. 2016 Jun;18(6):643-8

Cooley LD, Morton CC, Sanger WG Saxe DF, Mikhail FM. PMID 27124786

Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities. PMID 27124786

== Authors ==

== Authors ==

This updated Section E6.5–6.8 has been incorporated into and super- sedes the previous Sections E6.4 and E6.5 in Section E: Clinical Cyto- genetics of the 2009 Edition (Revised 01/2010), American College of Medical Genetics and Genomics Standards and Guidelines for Clini- cal Genetics Laboratories.  is section deals speci cally with the standards and guidelines applicable to lymph node and solid tumor chromosome analysis.

This updated Section E6.5–6.8 has been incorporated into and super- sedes the previous Sections E6.4 and E6.5 in Section E: Clinical Cyto- genetics of the 2009 Edition (Revised 01/2010), American College of Medical Genetics and Genomics Standards and Guidelines for Clini- cal Genetics Laboratories.  is section deals speci cally with the standards and guidelines applicable to lymph node and solid tumor chromosome analysis.

== General Consideration ==

== General Considerations ==

6.5.1 Genetic analysis of solid tumors and lymphomas at diagnosis provides information critical for diagnosis and patient management.1,2 Analysis of tumor tissues may be accomplished by conventional chromosome analysis, fluorescence in situ hybridization (FISH) analysis, chromosomal microarray (CMA) analysis, molecular analysis, or a combination of methodologies. Because the genetic information aids in the differential diagnosis and provides direction for the most appropriate therapeutic management, including targeted therapies, tumor materials should be studied with available methods to gain as much information as possible at the time of initial study. At a time of suspected disease recurrence or metastasis, the initial genetic data will be used to confirm recurrence or metastasis, assess clonal disease evolution, or reveal a new malignant process.

6.5.1 Genetic analysis of solid tumors and lymphomas at diagnosis provides information critical for diagnosis and patient management.1,2 Analysis of tumor tissues may be accomplished by conventional chromosome analysis, fluorescence in situ hybridization (FISH) analysis, chromosomal microarray (CMA) analysis, molecular analysis, or a combination of methodologies. Because the genetic information aids in the differential diagnosis and provides direction for the most appropriate therapeutic management, including targeted therapies, tumor materials should be studied with available methods to gain as much information as possible at the time of initial study. At a time of suspected disease recurrence or metastasis, the initial genetic data will be used to confirm recurrence or metastasis, assess clonal disease evolution, or reveal a new malignant process.

== Sample Collection and Processing ==

== Sample Collection and Processing ==

6.6.1.1 Tumor samples should be collected in a sterile manner. For conventional cytogenetic analysis, the tissue sample must be fresh. The sample selected for cytogenetic analysis should be “pure” tumor if possible, without necrosis. The sample must not be placed in fixative or frozen. Samples to be evaluated solely by FISH or CMA analysis may be fixed, frozen, or paraffin-embedded. If CMA analysis or sequencing is requested at the time of biopsy, DNA should be isolated from fresh tumor or formalin-fixed paraffin-embedded tumor rather than cultured tumor cells because clonal aberrations may be lost during cell culture. Cultured tumor cells may be used for isolation of DNA if the karyotype is clonally abnormal. The use of formalin-fixed paraffin-embedded samples for FISH and DNA isolation allows a pathologist to identify and mark optimal areas of tumor to examine, specify the percentage of tumor in an area, and/or identify areas of necrosis or stromal tissue to avoid.

6.6.1.1 Tumor samples should be collected in a sterile manner. For conventional cytogenetic analysis, the tissue sample must be fresh. The sample selected for cytogenetic analysis should be “pure” tumor if possible, without necrosis. The sample must not be placed in fixative or frozen. Samples to be evaluated solely by FISH or CMA analysis may be fixed, frozen, or paraffin-embedded. If CMA analysis or sequencing is requested at the time of biopsy, DNA should be isolated from fresh tumor or formalin-fixed paraffin-embedded tumor rather than cultured tumor cells because clonal aberrations may be lost during cell culture. Cultured tumor cells may be used for isolation of DNA if the karyotype is clonally abnormal. The use of formalin-fixed paraffin-embedded samples for FISH and DNA isolation allows a pathologist to identify and mark optimal areas of tumor to examine, specify the percentage of tumor in an area, and/or identify areas of necrosis or stromal tissue to avoid.

6.6.2.5 Disaggregation methods should be optimized for different tissue types:

6.6.2.5 Disaggregation methods should be optimized for different tissue types:

    a. Disaggregation of solid tumor samples for tissue culture is needed. Mechanical and/or enzymatic methods may be used. If sufficient tumor material is submitted, both methods of disaggregation are recommended. For some tumor types, different growth characteristics can be seen with exposure to collagenase versus no exposure to collagenase. If sufficient material is available, cultures should be initiated with and without enzyme exposure.

::a. Disaggregation of solid tumor samples for tissue culture is needed. Mechanical and/or enzymatic methods may be used. If sufficient tumor material is submitted, both methods of disaggregation are recommended. For some tumor types, different growth characteristics can be seen with exposure to collagenase versus no exposure to collagenase. If sufficient material is available, cultures should be initiated with and without enzyme exposure.

    b. Disaggregation of lymphoid tissues into single cell suspension is necessary before culture initiation. The lymphoid cells in most tissues are readily disaggregated by mechanical means such as mincing with scalpels or curved scissors. The use of these methods is often advantageous if the tissue is easily dissociated because it will keep the loss of cells to a minimum and may help minimize stromal contamination because stromal cells are often locked in fibrous connective tissues. If cells are not readily liberated by mechanical means, enzymatic digestion may be necessary. When using enzymatic digestion, the tissue must first be minced and then incubated with the enzyme solution (e.g., collagenase) for 20 minutes to 16 hours depending on how quickly cell release occurs.

::b. Disaggregation of lymphoid tissues into single cell suspension is necessary before culture initiation. The lymphoid cells in most tissues are readily disaggregated by mechanical means such as mincing with scalpels or curved scissors. The use of these methods is often advantageous if the tissue is easily dissociated because it will keep the loss of cells to a minimum and may help minimize stromal contamination because stromal cells are often locked in fibrous connective tissues. If cells are not readily liberated by mechanical means, enzymatic digestion may be necessary. When using enzymatic digestion, the tissue must first be minced and then incubated with the enzyme solution (e.g., collagenase) for 20 minutes to 16 hours depending on how quickly cell release occurs.

6.6.2.6 Culture methods, culture medium, and culture conditions should be chosen to best support the type of tumor received.

6.6.2.6 Culture methods, culture medium, and culture conditions should be chosen to best support the type of tumor received.

    a. The diagnosis and histopathology of a tumor can be helpful in determining culture and harvest methods. Different cell types can be expected to respond differently with growth medium, harvest method, and other factors (Table 6). If the diagnosis is unknown at culture initiation, it can be helpful to know whether the pathologist would classify the tumor as a “small round cell tumor” (SRCT), which includes lymphoproliferative disorders. SRCTs can be successfully grown in suspension, whereas non-SRCTs are best grown with monolayer (flask or coverslip) culture methods. Most, but not all, SRCTs (e.g., lymphoproliferative disorders) will also grow in monolayer culture. If adequate tissue is obtained, both culture types should be initiated for SRCTs. For very small tumor samples, coverslip cultures are recommended. Duplicate cultures should be established whenever possible.

::a. The diagnosis and histopathology of a tumor can be helpful in determining culture and harvest methods. Different cell types can be expected to respond differently with growth medium, harvest method, and other factors (Table 6). If the diagnosis is unknown at culture initiation, it can be helpful to know whether the pathologist would classify the tumor as a “small round cell tumor” (SRCT), which includes lymphoproliferative disorders. SRCTs can be successfully grown in suspension, whereas non-SRCTs are best grown with monolayer (flask or coverslip) culture methods. Most, but not all, SRCTs (e.g., lymphoproliferative disorders) will also grow in monolayer culture. If adequate tissue is obtained, both culture types should be initiated for SRCTs. For very small tumor samples, coverslip cultures are recommended. Duplicate cultures should be established whenever possible.

    b. For lymphoid tissues, disaggregated cells are cultured in suspension using appropriate supportive growth medium. Tumor cells are spontaneously dividing; however, mitogens may be used for lymphoid disorders to encourage proliferation of the desired cell type.

::b. For lymphoid tissues, disaggregated cells are cultured in suspension using appropriate supportive growth medium. Tumor cells are spontaneously dividing; however, mitogens may be used for lymphoid disorders to encourage proliferation of the desired cell type.

6.6.2.7 Experience with solid tumor culture will provide the laboratory with information regarding optimal growth conditions and harvest methods for different tumor types.

6.6.2.7 Experience with solid tumor culture will provide the laboratory with information regarding optimal growth conditions and harvest methods for different tumor types.

    a. It can be helpful for the laboratory to maintain a database that documents how the different tumor types have grown and which culture and harvest conditions yield abnormal clones. This database can then be searched for optimal processing and harvesting methods for any new tumor received in the laboratory.

::a. It can be helpful for the laboratory to maintain a database that documents how the different tumor types have grown and which culture and harvest conditions yield abnormal clones. This database can then be searched for optimal processing and harvesting methods for any new tumor received in the laboratory.

    b. Short culture durations are preferred to optimize the mitotic index of early dividing tumor cells and to avoid growth of normal tissues. Depending on the amount of available tissue, a combination of direct, 24-hour, and/or 48-hour cultures are most often utilized for lymphoid disorders. Short-term cultures (e.g., direct or overnight cultures) may also be used in conjunction with longer-term cultures to capture actively dividing cells from solid tumors.

::b. Short culture durations are preferred to optimize the mitotic index of early dividing tumor cells and to avoid growth of normal tissues. Depending on the amount of available tissue, a combination of direct, 24-hour, and/or 48-hour cultures are most often utilized for lymphoid disorders. Short-term cultures (e.g., direct or overnight cultures) may also be used in conjunction with longer-term cultures to capture actively dividing cells from solid tumors.

    c. Frequent (daily) observation of cells in culture is needed to determine cell growth rate and optimal time to harvest. Tumor cells should be harvested as soon as possible upon adequate growth to capture early dividing tumor cells and to prevent overgrowth by chromosomally normal cells.

::c. Frequent (daily) observation of cells in culture is needed to determine cell growth rate and optimal time to harvest. Tumor cells should be harvested as soon as possible upon adequate growth to capture early dividing tumor cells and to prevent overgrowth by chromosomally normal cells.

    d. Conditions used for cell harvest will vary among tissue types (e.g., mitotic inhibitors) used (e.g., colcemid, velban, ethidium bromide), their concentration, and exposure duration, and they should be established by each laboratory.

::d. Conditions used for cell harvest will vary among tissue types (e.g., mitotic inhibitors) used (e.g., colcemid, velban, ethidium bromide), their concentration, and exposure duration, and they should be established by each laboratory.

== Analytical Methods ==

== Analytical Methods ==

6.7.1.2.1 Initial diagnostic studies

6.7.1.2.1 Initial diagnostic studies

    a. Analysis

::a. Analysis

        i. Analyze 20 metaphase cells and/or a sufficient number of cells to characterize all abnormal clones and subclones.

:::i. Analyze 20 metaphase cells and/or a sufficient number of cells to characterize all abnormal clones and subclones.

        ii. If all cells show a complex karyotype where each cell is different, then analyze at least 10 cells with karyotyping.

:::ii. If all cells show a complex karyotype where each cell is different, then analyze at least 10 cells with karyotyping.

        b. Documentation

::b. Documentation

            i. For abnormal cells:

:::i. For abnormal cells:

                1. If only one abnormal clone is present: two karyotypes.

::::1. If only one abnormal clone is present: two karyotypes.

                2. If more than one related abnormal clone is present: at least one karyotype of the stemline and at least one of each sideline.

::::2. If more than one related abnormal clone is present: at least one karyotype of the stemline and at least one of each sideline.

                3. If unrelated clones are present: at least one karyotype for each stemline and one for each associated pertinent sideline.

::::3. If unrelated clones are present: at least one karyotype for each stemline and one for each associated pertinent sideline.

            ii. For normal cells:

:::ii. For normal cells:

                1. If only normal cells are present: two karyotypes.

::::1. If only normal cells are present: two karyotypes.

                2. If normal and abnormal cells are present: one karyotype of a normal cell plus karyotypes for abnormal clone(s) as described.

::::2. If normal and abnormal cells are present: one karyotype of a normal cell plus karyotypes for abnormal clone(s) as described.

6.7.1.2.2 Follow-up studies may be performed to assess stage of disease at the time of diagnosis or at the time of tumor recurrence.

6.7.1.2.2 Follow-up studies may be performed to assess stage of disease at the time of diagnosis or at the time of tumor recurrence.

    a. Analysis

::a. Analysis

        i. Analysis should include a minimum of 20 metaphase cells.

:::i. Analysis should include a minimum of 20 metaphase cells.

        ii. Additional cells may be scored for a specific abnormality identified in the diagnostic sample.

:::ii. Additional cells may be scored for a specific abnormality identified in the diagnostic sample.

        iii. In addition to looking for the known clonal aberration(s) from the diagnostic study, analysis of a sample after therapy should be performed with awareness of the possibility of new aberrations signifying clonal evolution and/or a new clonal process (i.e., therapy-related malignancy).

:::iii. In addition to looking for the known clonal aberration(s) from the diagnostic study, analysis of a sample after therapy should be performed with awareness of the possibility of new aberrations signifying clonal evolution and/or a new clonal process (i.e., therapy-related malignancy).

        iv. FISH analysis may be considered in lieu of conventional chromosomal analysis for diagnoses characterized by an abnormality for which FISH testing is available.

:::iv. FISH analysis may be considered in lieu of conventional chromosomal analysis for diagnoses characterized by an abnormality for which FISH testing is available.

        b. Documentation

::b. Documentation

            i. If both normal and abnormal cells or if only abnormal cells are present:

:::i. If both normal and abnormal cells or if only abnormal cells are present:

                1. One or two karyotypes from each abnormal clone with a minimum of two karyotypes.

::::1. One or two karyotypes from each abnormal clone with a minimum of two karyotypes.

                2. One karyotype of a normal cell, if a normal karyotype was not documented in a previous study.

::::2. One karyotype of a normal cell, if a normal karyotype was not documented in a previous study.

                3. If only normal cells are present: two karyotypes.

::::3. If only normal cells are present: two karyotypes.

6.7.2 FISH analysis

6.7.2 FISH analysis

6.7.2.1 FISH analysis may be used for primary, supplementary, or follow-up evaluation

6.7.2.1 FISH analysis may be used for primary, supplementary, or follow-up evaluation

    a. As a primary method for tumor evaluation, FISH is useful when (i) fresh tumor tissue is not available; (ii) rapid diagnostic information is needed to narrow the differential diagnosis; (iii) gene amplification or rearrangement for diagnostic or prognostic and/or therapeutic purposes is to be determined; (iv) no metaphase cells are obtained by culture of tumor material; or (v) conventional cytogenetic analysis yields a normal result.

::a. As a primary method for tumor evaluation, FISH is useful when (i) fresh tumor tissue is not available; (ii) rapid diagnostic information is needed to narrow the differential diagnosis; (iii) gene amplification or rearrangement for diagnostic or prognostic and/or therapeutic purposes is to be determined; (iv) no metaphase cells are obtained by culture of tumor material; or (v) conventional cytogenetic analysis yields a normal result.

    b. Supplemental FISH may be used as an adjunct to the initial conventional chromosomal analysis or CMA analysis to: (i) document a specific molecular event (e.g., gene rearrangement or fusion); (ii) provide a rapid result to aid in the differential diagnosis or planning of therapy; (iii) to assess gene copy number,; (iv) clarify level of clonality; or (v) confirm a microarray variant.

::b. Supplemental FISH may be used as an adjunct to the initial conventional chromosomal analysis or CMA analysis to: (i) document a specific molecular event (e.g., gene rearrangement or fusion); (ii) provide a rapid result to aid in the differential diagnosis or planning of therapy; (iii) to assess gene copy number,; (iv) clarify level of clonality; or (v) confirm a microarray variant.

    c. Follow-up FISH studies may be indicated to assess recurrent disease or disease progression and/or to differentiate recurrence of a tumor from a new disease process.

::c. Follow-up FISH studies may be indicated to assess recurrent disease or disease progression and/or to differentiate recurrence of a tumor from a new disease process.

    i. If initial studies failed to identify the clonal process unique to the tumor, then follow-up studies may provide another opportunity.

::d. If initial studies failed to identify the clonal process unique to the tumor, then follow-up studies may provide another opportunity.

6.7.2.2 Characterization of interphase FISH aberrations and FISH signal patterns. Characterization of interphase FISH aberrations and the FISH signal patterns in diagnostic samples is useful for future monitoring of disease. Gene fusions may confirm a specific tumor diagnosis. If a particular patient’s tumor has a unique FISH signal pattern, documentation of the pattern at diagnosis can prevent misinterpretation of FISH analysis at follow-up.

6.7.2.2 Characterization of interphase FISH aberrations and FISH signal patterns. Characterization of interphase FISH aberrations and the FISH signal patterns in diagnostic samples is useful for future monitoring of disease. Gene fusions may confirm a specific tumor diagnosis. If a particular patient’s tumor has a unique FISH signal pattern, documentation of the pattern at diagnosis can prevent misinterpretation of FISH analysis at follow-up.

6.7.2.3 Sample types. Sample types that may be used for FISH include (i) paraffin-embedded tissue sections; (ii) touch preparations (TP); (iii) cytospin preparations; (iv) cultured or direct harvest tumor cells; (v) fixed cytogenetically prepared cells; or (vi) fresh-frozen tumor tissues.

6.7.2.3 Sample types. Sample types that may be used for FISH include (i) paraffin-embedded tissue sections; (ii) touch preparations (TP); (iii) cytospin preparations; (iv) cultured or direct harvest tumor cells; (v) fixed cytogenetically prepared cells; or (vi) fresh-frozen tumor tissues.

    a. Paraffin-embedded tissue3

::a. Paraffin-embedded tissue3

        i. Before scoring a paraffin-embedded FISH slide, it is crucial for a pathologist to review a hematoxylin and eosin–stained slide and delineate the region of tumor cells that should be scored because it can be difficult to differentiate normal cells from malignant cells using only DAPI counterstain. The technologist should be clear, before scoring the slide, where the malignant cells of interest are located on the slide.

:::i. Before scoring a paraffin-embedded FISH slide, it is crucial for a pathologist to review a hematoxylin and eosin–stained slide and delineate the region of tumor cells that should be scored because it can be difficult to differentiate normal cells from malignant cells using only DAPI counterstain. The technologist should be clear, before scoring the slide, where the malignant cells of interest are located on the slide.

        ii. Formalin-fixed, paraffin-embedded tissue is acceptable for FISH analysis. Tissues preserved in B5 fixative or decalcified are not suitable for FISH.

:::ii. Formalin-fixed, paraffin-embedded tissue is acceptable for FISH analysis. Tissues preserved in B5 fixative or decalcified are not suitable for FISH.

        iii. Tumor sections cut 3 to 4 µm thick and mounted on positively charged organosilane-coated (silanized) slides work well. The cytogenetics laboratory should request several unstained sections and one hematoxylin and eosin–stained sequentially cut section from the submitting laboratory.

:::iii. Tumor sections cut 3 to 4 µm thick and mounted on positively charged organosilane-coated (silanized) slides work well. The cytogenetics laboratory should request several unstained sections and one hematoxylin and eosin–stained sequentially cut section from the submitting laboratory.

        b. Touch preparations

::b. Touch preparations

            i. A pathologist should make the TP or should be involved in selecting the tissue for TPs.

:::i. A pathologist should make the TP or should be involved in selecting the tissue for TPs.

            ii. TPs are helpful when tissue architecture is not crucial.

:::ii. TPs are helpful when tissue architecture is not crucial.

            iii. TPs should be made by lightly touching the piece of tumor to a glass slide without smearing, followed by air drying.

:::iii. TPs should be made by lightly touching the piece of tumor to a glass slide without smearing, followed by air drying.

            c. Cytospin preparations

::c. Cytospin preparations

                i. Cytospin preparations are useful for a concentration of samples with very low cellularity (e.g., cerebrospinal fluid).

:::i. Cytospin preparations are useful for a concentration of samples with very low cellularity (e.g., cerebrospinal fluid).

                d. Fixed cytogenetically prepared cells

::d. Fixed cytogenetically prepared cells

                    i. Such preparations have multiple uses for both interphase and metaphase FISH evaluation including confirmation and clarification of suspected chromosome aberrations or characterization of an apparently abnormal clone. Metaphase cell evaluation may help clarify specific chromosome rearrangements.

:::i. Such preparations have multiple uses for both interphase and metaphase FISH evaluation including confirmation and clarification of suspected chromosome aberrations or characterization of an apparently abnormal clone. Metaphase cell evaluation may help clarify specific chromosome rearrangements.

                    e. Fresh-frozen tumor tissues

::e. Fresh-frozen tumor tissues

                        i. Such tissues may be useful in sequential analysis of recurring tumors or in evaluation of archived samples.

:::i. Such tissues may be useful in sequential analysis of recurring tumors or in evaluation of archived samples.

6.7.2.4 Documentation. Analysis and documentation of FISH results should be in accordance with Section E9 of these Standards and Guidelines for Clinical Genetics Laboratories.4

6.7.2.4 Documentation. Analysis and documentation of FISH results should be in accordance with Section E9 of these Standards and Guidelines for Clinical Genetics Laboratories.4

6.7.3.2 Sample types that may be used for CMA analysis include (i) fresh tumor tissue; (ii) paraffin-embedded tumor tissue; (iii) frozen tumor; and (iv) cultured cells, chromosomally characterized when possible.

6.7.3.2 Sample types that may be used for CMA analysis include (i) fresh tumor tissue; (ii) paraffin-embedded tumor tissue; (iii) frozen tumor; and (iv) cultured cells, chromosomally characterized when possible.

    a. Fresh tumor tissue

::a. Fresh tumor tissue

        i. If the tumor is homogeneous, fresh tumor is the optimal sample for CMA and can be procured at the time of sample processing for chromosomal analysis. A small piece of identified tumor should be transferred to the microarray laboratory as soon as possible for DNA isolation. For heterogeneous tumors with areas of necrosis, normal tissue, or prominent stoma, DNA isolation from histologically characterized formalin-fixed paraffin-embedded material may be needed to ensure that isolated DNA is from the tumor.

:::i. If the tumor is homogeneous, fresh tumor is the optimal sample for CMA and can be procured at the time of sample processing for chromosomal analysis. A small piece of identified tumor should be transferred to the microarray laboratory as soon as possible for DNA isolation. For heterogeneous tumors with areas of necrosis, normal tissue, or prominent stoma, DNA isolation from histologically characterized formalin-fixed paraffin-embedded material may be needed to ensure that isolated DNA is from the tumor.

        b. Paraffin-embedded tumor

::b. Paraffin-embedded tumor

            i. A pathologist should review the hematoxylin and eosin-stained section of the tumor to identify an area of concentrated tumor for DNA isolation.

:::i. A pathologist should review the hematoxylin and eosin-stained section of the tumor to identify an area of concentrated tumor for DNA isolation.

            c. Fresh-frozen tumor

::c. Fresh-frozen tumor

                i. Frozen stored tumor should provide high-quality DNA for CMA. A pathologist’s review of the original H&E-stained slides can assure the frozen sample contains adequate tumor.

:::i. Frozen stored tumor should provide high-quality DNA for CMA. A pathologist’s review of the original H&E-stained slides can assure the frozen sample contains adequate tumor.

                d. Cultured tumor cells

::d. Cultured tumor cells

                    i. Tumor cells that have been placed into culture may be used for DNA isolation and CMA as long as they remain viable. An early decision to use cells for CMA is best to minimize growth of normal tissue components.

:::i. Tumor cells that have been placed into culture may be used for DNA isolation and CMA as long as they remain viable. An early decision to use cells for CMA is best to minimize growth of normal tissue components.

                    ii. DNA from cultured and harvested tumor cells that have been chromosomally characterized as abnormal may be used for CMA.

:::ii. DNA from cultured and harvested tumor cells that have been chromosomally characterized as abnormal may be used for CMA.

6.7.3.3 Documentation: analysis and documentation of CMA studies should be in accordance with Section E11 of these Standards and Guidelines for Clinical Genetics Laboratories.5

6.7.3.3 Documentation: analysis and documentation of CMA studies should be in accordance with Section E11 of these Standards and Guidelines for Clinical Genetics Laboratories.5

6.8.1.2 TAT guidance:

6.8.1.2 TAT guidance:

    a. Because of the multiplicity of tumor types and the different tumor growth characteristics in culture, TATs will vary. However, the final report for each tumor should be available as soon as possible given such factors. Final results should be available within 28 calendar days.

::a. Because of the multiplicity of tumor types and the different tumor growth characteristics in culture, TATs will vary. However, the final report for each tumor should be available as soon as possible given such factors. Final results should be available within 28 calendar days.

    b. Tumor FISH analysis results should be available within 1 to 4 days for most tumors and within 7 days for paraffin-embedded tumors.

::b. Tumor FISH analysis results should be available within 1 to 4 days for most tumors and within 7 days for paraffin-embedded tumors.

    c. Preliminary verbal reports may be appropriate for some case studies. If preliminary results are communicated, then the date of preliminary report should be documented in the final report. The content of the preliminary report should be documented if it differs significantly from that of the final report.

::c. Preliminary verbal reports may be appropriate for some case studies. If preliminary results are communicated, then the date of preliminary report should be documented in the final report. The content of the preliminary report should be documented if it differs significantly from that of the final report.

6.8.2 Reporting

6.8.2 Reporting