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Official Description

Cytogenetics and molecular cytogenetics, interpretation and report

© Copyright 2026 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 88291 refers to the process of cytogenetics and molecular cytogenetics, specifically focusing on the interpretation and reporting of laboratory tests. This procedure involves a detailed analysis of chromosomes, including their numbers and configurations, which are essential for understanding various genetic conditions. Cytogenetics examines the structure and function of chromosomes, while molecular cytogenetics delves deeper into the molecular aspects, providing insights into genetic abnormalities at a more granular level. The interpretation and report generated from these tests are crucial for diagnosing a range of conditions, including congenital anomalies, developmental delays, and infertility issues. Additionally, these tests are significant for females experiencing gonadal dysgenesis, for evaluating products of conception following spontaneous abortion, and for couples with a history of recurrent miscarriages. Furthermore, cytogenetic and molecular cytogenetic analyses play a vital role in the diagnosis and classification of hematologic and oncologic diseases, aiding in the determination of appropriate treatment plans and monitoring the patient's disease status and recovery. It is essential that each cytogenetic laboratory test is thoroughly analyzed and interpreted by at least two qualified professionals, ensuring that the evaluation is based on established criteria, which include the rationale for the study, the clinical reason for the referral, the type of tissue examined, the minimum number of cells counted or sorted, and the total number of cells analyzed and karyotyped.

© Copyright 2026 Coding Ahead. All rights reserved.

1. Indications

The procedure associated with CPT® Code 88291 is indicated for a variety of clinical scenarios where cytogenetic and molecular cytogenetic testing is warranted. These indications include:

  • Congenital Anomalies - Testing is performed on individuals presenting with physical or developmental abnormalities that may have a genetic basis.
  • Developmental Delays - Individuals with unexplained developmental delays may undergo testing to identify potential chromosomal abnormalities.
  • Infertility - Couples experiencing infertility may be tested to determine if chromosomal factors are contributing to their difficulties in conceiving.
  • Gonadal Dysgenesis - Females with this condition, characterized by abnormal development of the gonads, may require cytogenetic evaluation.
  • Products of Conception - In cases of spontaneous abortion, testing may be conducted on the products of conception to identify chromosomal abnormalities that could explain the miscarriage.
  • Repeated Spontaneous Miscarriage - Couples with a history of multiple miscarriages may be tested to assess for underlying chromosomal issues.
  • Hematologic/Oncologic Disease Diagnosis - Cytogenetic testing is crucial for diagnosing and classifying blood-related cancers and other oncologic diseases.
  • Treatment Monitoring - These tests are also utilized to monitor disease status and recovery in patients with hematologic or oncologic conditions.

2. Procedure

The procedure for CPT® Code 88291 involves several critical steps to ensure accurate interpretation and reporting of cytogenetic and molecular cytogenetic tests. Each step is essential for the comprehensive analysis of the genetic material.

  • Step 1: Sample Collection - The first step involves the collection of a biological sample, which may include blood, bone marrow, or tissue, depending on the clinical indication. Proper collection techniques are vital to ensure the integrity of the sample for subsequent analysis.
  • Step 2: Cell Culture - Once the sample is collected, it is subjected to cell culture to promote the growth of cells. This step is crucial as it allows for the analysis of a sufficient number of cells, which is necessary for accurate karyotyping.
  • Step 3: Chromosome Preparation - After adequate cell growth, the cells are treated to halt the cell cycle at metaphase, where chromosomes are most visible. This preparation is essential for clear visualization and analysis of the chromosomes.
  • Step 4: Karyotyping - The prepared chromosomes are then stained and examined under a microscope. Karyotyping involves arranging the chromosomes in a standard format to identify their number and structure, allowing for the detection of any abnormalities.
  • Step 5: Interpretation - The karyotype is analyzed by qualified professionals who assess the chromosome number and structure. This interpretation is based on established criteria, including the rationale for the study and the clinical context.
  • Step 6: Reporting - Finally, a detailed written report is generated, summarizing the findings of the analysis. This report includes the interpretation of the results and any recommendations for further action or testing, if necessary.

3. Post-Procedure

Post-procedure care following the cytogenetic and molecular cytogenetic testing associated with CPT® Code 88291 typically involves the communication of results to the referring physician and the patient. The interpretation report should be reviewed in the context of the patient's clinical history and symptoms. Depending on the findings, further diagnostic testing or referrals to genetic counseling may be recommended to discuss the implications of the results. Patients may also require follow-up appointments to address any questions or concerns regarding their results and potential next steps in their care. It is important for healthcare providers to ensure that patients understand the significance of the findings and any recommended actions based on the results of the cytogenetic analysis.

Short Descr CYTO/MOLECULAR REPORT
Medium Descr CYTOGENETICS&MOLEC CYTOGENETICS INTERP&REP
Long Descr Cytogenetics and molecular cytogenetics, interpretation and report
Status Code Active Code
Global Days XXX - Global Concept Does Not Apply
PC/TC Indicator (26, TC) 2 - Professional Component Only Code
Multiple Procedures (51) 0 - No payment adjustment rules for multiple procedures apply.
Bilateral Surgery (50) 0 - 150% payment adjustment for bilateral procedures does NOT apply.
Physician Supervisions 09 - Concept does not apply.
Assistant Surgeon (80, 82) 0 - Payment restriction for assistants at surgery applies to this procedure...
Co-Surgeons (62) 0 - Co-surgeons not permitted for this procedure.
Team Surgery (66) 0 - Team surgeons not permitted for this procedure.
Diagnostic Imaging Family 99 - Concept Does Not Apply
APC Status Indicator Items and Services Not Billable to the MAC
Type of Service (TOS) 5 - Diagnostic Laboratory
Berenson-Eggers TOS (BETOS) T1G - Lab tests - other (Medicare fee schedule)
MUE 1
CCS Clinical Classification 206 - Microscopic examination (bacterial smear, culture, toxicology)
GZ Item or service expected to be denied as not reasonable and necessary
59 Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25.
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
GC This service has been performed in part by a resident under the direction of a teaching physician
XE Separate encounter, a service that is distinct because it occurred during a separate encounter
Q1 Routine clinical service provided in a clinical research study that is in an approved clinical research study
XP Separate practitioner, a service that is distinct because it was performed by a different practitioner
91 Repeat clinical diagnostic laboratory test: in the course of treatment of the patient, it may be necessary to repeat the same laboratory test on the same day to obtain subsequent (multiple) test results. under these circumstances, the laboratory test performed can be identified by its usual procedure number and the addition of modifier 91. note: this modifier may not be used when tests are rerun to confirm initial results; due to testing problems with specimens or equipment; or for any other reason when a normal, one-time, reportable result is all that is required. this modifier may not be used when other code(s) describe a series of test results (eg, glucose tolerance tests, evocative/suppression testing). this modifier may only be used for laboratory test(s) performed more than once on the same day on the same patient.
GA Waiver of liability statement issued as required by payer policy, individual case
77 Repeat procedure by another physician or other qualified health care professional: it may be necessary to indicate that a basic procedure or service was repeated by another physician or other qualified health care professional subsequent to the original procedure or service. this circumstance may be reported by adding modifier 77 to the repeated procedure or service. note: this modifier should not be appended to an e/m service.
XS Separate structure, a service that is distinct because it was performed on a separate organ/structure
76 Repeat procedure or service by same physician or other qualified health care professional: it may be necessary to indicate that a procedure or service was repeated by the same physician or other qualified health care professional subsequent to the original procedure or service. this circumstance may be reported by adding modifier 76 to the repeated procedure or service. note: this modifier should not be appended to an e/m service.
26 Professional component: certain procedures are a combination of a physician or other qualified health care professional component and a technical component. when the physician or other qualified health care professional component is reported separately, the service may be identified by adding modifier 26 to the usual procedure number.
90 Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number.
93 Synchronous telemedicine service rendered via telephone or other real-time interactive audio-only telecommunications system : synchronous telemedicine service is defined as a real-time interaction between a physician or other qualified health care professional and a patient who is located away at a distant site from the physician or other qualified health care professional. the totality of the communication of information exchanged between the physician or other qualified health care professional and the patient during the course of the synchronous telemedicine service must be of an amount and nature that is sufficient to meet the key components and/or requirements of the same service when rendered via a face-to-face interaction.
AQ Physician providing a service in an unlisted health professional shortage area (hpsa)
CR Catastrophe/disaster related
GV Attending physician not employed or paid under arrangement by the patient's hospice provider
GW Service not related to the hospice patient's terminal condition
Q0 Investigational clinical service provided in a clinical research study that is in an approved clinical research study
Q6 Service furnished under a fee-for-time compensation arrangement by a substitute physician or by a substitute physical therapist furnishing outpatient physical therapy services in a health professional shortage area, a medically underserved area, or a rural area
SA Nurse practitioner rendering service in collaboration with a physician
X5 Diagnostic services requested by another clinician: for reporting services by a clinician who furnishes care to the patient only as requested by another clinician or subsequent and related services requested by another clinician; this modifier is reported for patient relationships that may not be adequately captured by the above alternative categories; reporting clinician service examples include but are not limited to, the radiologist's interpretation of an imaging study requested by another clinician
Date
Action
Notes
2013-01-01 Changed Medium Descriptor changed.
1999-01-01 Added First appearance in code book in 1999.
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