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Official Description

Molecular cytogenetics; chromosomal in situ hybridization, analyze 3-5 cells (eg, for derivatives and markers)

© Copyright 2026 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 88272 refers to a specific laboratory test that focuses on molecular cytogenetics through the technique of chromosomal in situ hybridization. This procedure is designed to analyze a sample of 3-5 cells, which may be derived from blood or bone marrow, to identify chromosomal derivatives and markers, as well as microdeletions. Molecular cytogenetics is a branch of genetics that studies the structure and function of chromosomes, including their abnormalities and variations within the genome. The analysis performed using this code is crucial for detecting specific chromosomal abnormalities that can be associated with various genetic disorders. The test involves obtaining a blood sample through a venipuncture or a bone marrow aspiration, both of which are separately reportable procedures. The derivatives and markers that may be identified include small supernumerary marker chromosomes (sSMCs) and chromosomal exchange materials, which can be detected through G-banded chromosome analysis. Additionally, microdeletions, defined as small chromosomal deletions of less than 5 megabases (Mb) that may involve one or more genes, are often linked to multiple congenital anomalies. The chromosomal in situ hybridization analysis can help identify several genetic conditions, including but not limited to Angelman syndrome, Prader-Willi syndrome, and Williams syndrome, among others. This code is specifically utilized when the analysis is limited to 3-5 cells, while a different code, 88273, is designated for the analysis of 10-30 cells for microdeletions.

© Copyright 2026 Coding Ahead. All rights reserved.

1. Indications

The procedure associated with CPT® Code 88272 is indicated for the evaluation of various genetic conditions and abnormalities. The following conditions may warrant the use of chromosomal in situ hybridization analysis:

  • Angelman syndrome - A genetic disorder that affects the nervous system and causes severe intellectual and developmental disabilities.
  • Crit-du-chat (5p-) syndrome - A chromosomal deletion syndrome characterized by a distinctive cry in infancy, developmental delays, and various physical abnormalities.
  • DeGeorge/Velocardiofacial syndrome (22q11.2) - A genetic disorder that can cause heart defects, immune system problems, and cleft palate.
  • Kallmann syndrome (Xp22.3) - A condition that affects the development of the reproductive system and sense of smell.
  • Miller-Dieker (Lissencephaly) syndrome (17p13.3) - A disorder characterized by smooth brain (lissencephaly), developmental delays, and seizures.
  • Phelan-McDermid (22qter) syndrome (22q13.3) - A genetic condition associated with developmental delays, intellectual disability, and autism spectrum disorders.
  • Prader-Willi syndrome (15q11.2-13) - A genetic disorder that results in a variety of physical, mental, and behavioral problems, including obesity and intellectual disability.
  • SHOX (Xp22.3) - A gene associated with skeletal development, and its abnormalities can lead to short stature and other skeletal issues.
  • Smith-Magenis syndrome (17p11.2) - A genetic disorder characterized by developmental delays, behavioral problems, and distinctive physical features.
  • SRY/male detection (Yp11.3) - A test for the presence of the SRY gene, which is critical for male sex determination.
  • Steroid sulfatase deficiency (STS) (Xp22.3) - A condition that affects the metabolism of steroid hormones, leading to various health issues.
  • Williams (elastin) syndrome (7q11.23) - A genetic disorder that affects connective tissue and is associated with cardiovascular issues and developmental delays.
  • Wolf-Hirschhorn (4p-) syndrome (4p16.3) - A chromosomal deletion syndrome that leads to growth delays, intellectual disability, and distinctive facial features.
  • Yq12 - Analysis related to the Y chromosome, which can be important for male-specific genetic conditions.

2. Procedure

The procedure for CPT® Code 88272 involves several key steps to ensure accurate analysis of the chromosomal material. The first step is the collection of a sample, which can be obtained through a venipuncture for blood or a bone marrow aspiration. This sample is then prepared for analysis, where the cells are isolated and placed on a slide. Following this, chromosomal in situ hybridization is performed, which involves applying fluorescently labeled DNA probes to the prepared slide. These probes bind to specific regions of the chromosomes, allowing for the visualization of chromosomal derivatives and markers under a fluorescence microscope. The analysis focuses on 3-5 cells, where the presence of small supernumerary marker chromosomes (sSMCs) and chromosomal exchange materials can be identified. The results of this analysis provide critical information regarding chromosomal abnormalities and can assist in diagnosing various genetic conditions.

3. Post-Procedure

After the chromosomal in situ hybridization analysis is completed, the results are interpreted by a qualified geneticist or pathologist. The findings are documented in a report that details any identified chromosomal abnormalities, derivatives, or markers. This report is essential for guiding further clinical management and decision-making regarding the patient's care. Patients may require follow-up consultations to discuss the implications of the results, potential genetic counseling, and any necessary interventions based on the identified conditions. It is important to note that the recovery from the sample collection procedure, whether venipuncture or bone marrow aspiration, may vary, and patients should be monitored for any adverse effects or complications associated with these procedures.

Short Descr CYTOGENETICS 3-5
Medium Descr MOLECULAR CYTOGENETICS CHRMOML ISH 3-5 CELLS
Long Descr Molecular cytogenetics; chromosomal in situ hybridization, analyze 3-5 cells (eg, for derivatives and markers)
Status Code Statutory Exclusion (from MPFS, may be paid under other methodologies)
Global Days XXX - Global Concept Does Not Apply
PC/TC Indicator (26, TC) 9 - Not Applicable
Multiple Procedures (51) 9 - Concept does not apply.
Bilateral Surgery (50) 9 - Concept does not apply.
Physician Supervisions 09 - Concept does not apply.
Assistant Surgeon (80, 82) 9 - Concept does not apply.
Co-Surgeons (62) 9 - Concept does not apply.
Team Surgery (66) 9 - Concept does not apply.
Diagnostic Imaging Family 99 - Concept Does Not Apply
CLIA Waived (QW) No
APC Status Indicator Conditionally packaged laboratory tests
Type of Service (TOS) 5 - Diagnostic Laboratory
Berenson-Eggers TOS (BETOS) T1H - Lab tests - other (non-Medicare fee schedule)
MUE 12
CCS Clinical Classification 235 - Other Laboratory
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.
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
Date
Action
Notes
2011-01-01 Changed Short description changed.
1999-01-01 Added First appearance in code book in 1999.
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