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The CPT® Code 81422 refers to a specific laboratory test known as fetal chromosomal microdeletion(s) genomic sequence analysis. This test is performed on circulating cell-free fetal DNA found in maternal blood. The primary purpose of this analysis is to detect chromosomal abnormalities that may be associated with various genetic conditions, including DiGeorge syndrome and Cri-du-chat syndrome. These conditions arise from specific chromosomal microdeletions, which are small missing segments of DNA that can lead to significant developmental issues. The test is particularly relevant for identifying aneuploidies, which are conditions where there is an abnormal number of chromosomes, such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome), as well as monosomy X (Turner syndrome). The procedure involves obtaining a blood sample from the mother, which is then analyzed for fetal DNA fragments using advanced techniques such as targeted sequencing and single-nucleotide polymorphism analysis. This non-invasive approach allows for the assessment of fetal genetic material without the need for more invasive procedures, making it a valuable tool in prenatal care. The test is particularly indicated for women who meet certain criteria, such as being over the age of 35, having elevated levels of maternal free beta-hCG, or having abnormal ultrasound findings that suggest the possibility of fetal aneuploidy. Additionally, a maternal history of previous pregnancies affected by aneuploidy may also warrant this testing. Positive results from this analysis may lead to further genetic testing options, such as chorionic villus sampling or amniocentesis, to confirm any findings and provide more comprehensive information regarding the fetus's genetic health.
© Copyright 2025 Coding Ahead. All rights reserved.
The fetal chromosomal microdeletion(s) genomic sequence analysis (CPT® Code 81422) is indicated under specific circumstances that may suggest the presence of chromosomal abnormalities in the fetus. The following criteria are explicitly provided for consideration:
The procedure for conducting the fetal chromosomal microdeletion(s) genomic sequence analysis involves several key steps that ensure accurate results. First, a blood sample is obtained from the mother through a process known as venipuncture. This step is crucial as it collects the necessary circulating cell-free fetal DNA present in the maternal blood. Once the sample is collected, it is sent to a laboratory for analysis. In the lab, the whole blood is subjected to targeted sequencing techniques that focus on identifying specific fetal DNA fragments. This analysis utilizes single-nucleotide polymorphism (SNP) technology to detect any chromosomal microdeletions or aneuploidies. The targeted sequencing allows for a detailed examination of the fetal genetic material, specifically looking for abnormalities associated with conditions such as DiGeorge syndrome and Cri-du-chat syndrome. If the test yields positive results, indicating the presence of chromosomal abnormalities, further genetic testing may be recommended, including procedures like chorionic villus sampling or amniocentesis, to confirm the findings and provide additional information regarding the fetus's genetic health.
After the fetal chromosomal microdeletion(s) genomic sequence analysis is completed, the results are typically reviewed by a healthcare professional who will discuss the findings with the patient. If the results are positive for chromosomal abnormalities, the patient may be referred for further genetic counseling and testing to explore the implications of the findings. This may include more invasive procedures such as chorionic villus sampling or amniocentesis, which can provide definitive information about the fetus's genetic status. It is important for patients to understand the potential outcomes and options available based on the results of the analysis. Additionally, the healthcare provider may discuss the emotional and psychological support available to the patient during this time, as receiving news about potential genetic conditions can be challenging. Overall, the post-procedure phase is critical for ensuring that patients receive comprehensive care and support following the analysis.
| Short Descr | FETAL CHRMOML MICRODELTJ | Medium Descr | FETAL CHROMOSOMAL MICRODELTJ GENOMIC SEQ ANALYS | Long Descr | Fetal chromosomal microdeletion(s) genomic sequence analysis (eg, DiGeorge syndrome, Cri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood | 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 | Service Paid under Fee Schedule or Payment System other than OPPS | Type of Service (TOS) | 5 - Diagnostic Laboratory | Berenson-Eggers TOS (BETOS) | T2D - Other tests - other | MUE | 1 |
| 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. |
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| 2017-01-01 | Added | Added |
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