Test Id : HSCHP
High Sensitivity Clonal Hematopoiesis Panel, Next-Generation Sequencing, Blood
Useful For
Suggests clinical disorders or settings where the test may be helpful
Evaluating clonal hematopoiesis (CH) prior to initiation of genotoxic therapy
Monitoring clonal evolution and the emergence of clinically relevant clones throughout the course of genotoxic treatment
Distinguishing tumor driver mutations from CH-associated variants
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test utilizes a highly sensitive next-generation sequencing to detect single nucleotide variants (SNVs) and small deletion-insertions (delins) in 37 genes associated with clonal hematopoiesis (CH). This panel identifies variants in: ASXL1, ATM, BARD1, BCOR, BCORL1, BRAF, BRCA1, BRCA2, BRIP1, CBL, CHEK2, DNMT3A, EZH2, GATA2, IDH1, IDH2, JAK2, KRAS, NRAS, PALB2, PHF6, PPM1D, PTPN11, RAD21, RAD51C, RAD51D, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, ZRSR2. See Targeted Genes and Methodology Details for High Sensitivity Clonal Hematopoiesis Panel for details regarding the targeted gene regions evaluated by this test.
Method Name
A short description of the method used to perform the test
Targeted Next-Generation Sequencing (NGS)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Clonal hematopoiesis
Clonal hematopoiesis of indeterminate potential
CH
CHIP
Context-relevant CH
CR-CH
NextGen Sequencing Test
Oncology panel
Therapy-induced clonal hematopoiesis
t-CH
Specimen Type
Describes the specimen type validated for testing
Varies
Ordering Guidance
This test is not a prenatal screening test. For prenatal screening, consider QUAD1 / Quad Screen (Second Trimester) Maternal, Serum.
Multiple oncology (cancer) gene panels are available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| MG182 | Reason for Referral |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Patient Preparation: A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Whole blood collected postnatal from an umbilical cord is also acceptable. See Additional Information
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens
2. To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing
3. For postnatal umbilical cord whole blood specimens, maternal cell contamination studies are recommended to ensure test results reflect that of the patient tested. A maternal blood specimen is required to complete maternal cell contamination studies. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on both the cord blood and maternal blood specimens under separate order numbers.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
See Specimen Required
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
| Frozen | |||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Evaluating clonal hematopoiesis (CH) prior to initiation of genotoxic therapy
Monitoring clonal evolution and the emergence of clinically relevant clones throughout the course of genotoxic treatment
Distinguishing tumor driver mutations from CH-associated variants
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test utilizes a highly sensitive next-generation sequencing to detect single nucleotide variants (SNVs) and small deletion-insertions (delins) in 37 genes associated with clonal hematopoiesis (CH). This panel identifies variants in: ASXL1, ATM, BARD1, BCOR, BCORL1, BRAF, BRCA1, BRCA2, BRIP1, CBL, CHEK2, DNMT3A, EZH2, GATA2, IDH1, IDH2, JAK2, KRAS, NRAS, PALB2, PHF6, PPM1D, PTPN11, RAD21, RAD51C, RAD51D, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, ZRSR2. See Targeted Genes and Methodology Details for High Sensitivity Clonal Hematopoiesis Panel for details regarding the targeted gene regions evaluated by this test.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Clonal hematopoiesis (CH) is an age-related condition in which certain hematopoietic stem cells acquire genetic changes that allow them to proliferate and expand. Clonal hematopoiesis of indeterminate potential (CHIP) is defined by somatic variants with a variant allele fraction (VAF) greater than 2% in the absence of hematologic malignancy. CHIP is associated with increased inflammation and an elevated risk of developing myeloid neoplasms (MNs). CH can also occur after exposure to chemotherapy or radiation. When this happens, it is referred to as therapy-induced CH (t-CH) or context-relevant CH (CR-CH). CR-CH can affect how patients with solid tumors respond to treatment and can influence overall outcomes.(1-3) Chemotherapy and radiation can drive the growth of existing or newly developed t-CH and increase the risk of therapy-related myeloid neoplasms.(4-6)
This test analyzes peripheral blood to detect somatic mutations that are known to be associated with CH. The results can help a patient's physician make more informed decisions about the use of chemotherapy, radiation or radionuclide therapies. It can also help guide personalized monitoring strategies to reduce therapy-related hematologic toxicities. This test reduces the risk of false-positive liquid biopsy results that could lead to unnecessary PARP inhibitor treatment, reported in up to 10% of prostate cancer cases.(7)
In addition to helping guide treatment and monitoring, identifying CH and/or CHIP related mutations can offer valuable prognostic information and inform clinical trials eligibility.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
The interpretation of molecular biomarker analysis includes an overview of the results and the associated implications.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Test results should be interpreted in the context of clinical laboratory data. If results obtained do not match other clinical or laboratory findings, contact the laboratory for discussion. Misinterpretation of results may occur if the information provided is inaccurate and/or incomplete.
This test may not differentiate between somatic and germline alterations.
This test does not detect large structural variants or copy number changes. This test does not reliably detect insertions larger than approximately 119 base pairs and deletions larger than approximately 129 base pairs
A negative (ie, wildtype) result does not rule out the presence of an alteration that may be present but below the limits of detection of this assay.
The presence or absence of a variant may not be predictive of response to therapy in all patients.
Supportive Data
Validation studies demonstrated a limit of detection of 0.25% variant allele frequency (VAF) for single nucleotide variants (SNVs) and deletion-insertions (delins), supported by a minimum deduplicated coverage depth of greater than or equal to 500× and a minimum DNA input of 40 ng. Variants with observed VAFs as low as 0.15% may be reported.
Analytical accuracy studies demonstrated 100% sensitivity for SNVs and 98.9% sensitivity for delins, with positive predictive value of 100% for SNVs and 99.0% for delins when compared with orthogonal next-generation sequencing methods and high-sensitivity confirmatory testing. Base-by-base sequencing accuracy assessed using well-characterized reference materials demonstrated greater than or equal to 99.99% accuracy.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Diplas BH, Ptashkin R, Chou JF, et al. Clinical importance of clonal hematopoiesis in metastatic gastrointestinal tract cancers. JAMA Netw Open. 2023;6(2):e2254221doi:10.1001/jamanetworkopen.2022.54221
2. Coombs CC, Zehir A, Devlin SM, et al. Therapy-related clonal hematopoiesis in patients with non-hematologic cancers is common and associated with adverse clinical outcomes. Cell Stem Cell. 2017;21(3):374-382.e4. doi:10.1016/j.stem.2017.07.010
3. Mayerhofer C, Sedrak MS, Hopkins JO, et al. Clonal hematopoiesis in older patients with breast cancer receiving chemotherapy. J Natl Cancer Inst. 2023;115(8):981-988. doi:10.1093/jnci/djad065
4. Morton LM, Dores GM, Schonfeld SJ, et al. Association of chemotherapy for solid tumors with development of therapy-related myelodysplastic syndrome or acute myeloid leukemia in the modern era. JAMA Oncol. 2019;5(3):318-325. doi:10.1001/jamaoncol.2018.5625
5. Hsu JI, Dayaram T, Tovy A, et al. PPM1D mutations drive clonal hematopoiesis in response to cytotoxic chemotherapy. Cell Stem Cell. 2018;23(5):700-713.e6. doi:10.1016/j.stem.2018.10.004
6. Kahn JD, Miller PG, Silver AJ, et al. PPM1D-truncating mutations confer resistance to chemotherapy and sensitivity to PPM1D inhibition in hematopoietic cells. Blood. 2018;132(11):1095-1105. doi:10.1182/blood-2018-05-850339
7. Jensen K, Konnick EQ, Schweizer MT, et al. Association of clonal hematopoiesis in dna repair genes with prostate cancer plasma cell-free dna testing interference. JAMA Oncol. 2021;7(1):107-110. doi:10.1001/jamaoncol.2020.5161
Method Description
Describes how the test is performed and provides a method-specific reference
The high sensitivity clonal hematopoiesis panel is a capture-based next-generation sequencing assay designed to detect single nucleotide variants (SNVs) and small deletions-insertions (delins) across defined regions in 37 genes associated with clonal hematopoiesis using whole blood-derived genomic DNA. The human genome reference GRCh37/hg19 build was used for sequence read alignment. Refer to the final patient report for gene transcript information referenced at the time of testing. Confirmation of selected reportable variants may be performed by alternate methodologies based on internal laboratory criteria.
See Targeted Genes and Methodology Details for High Sensitivity Clonal Hematopoiesis Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Varies
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
81479
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| HSCHP | HS Clonal Hematopoiesis Panel | In Process |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 623138 | Result | 82939-0 |
| 623139 | Interpretation | 69047-9 |
| 623140 | Additional Information | 48767-8 |
| 623141 | Specimen | 31208-2 |
| 623142 | Method | 85069-3 |
| 623143 | Disclaimer | 62364-5 |
| 623670 | Released By | 18771-6 |