2025 CPT code 81422
(Active) Effective Date: N/A Revision Date: N/A Laboratory - Genomic Sequencing Procedures and Other Molecular Multianalyte Assays Pathology and Laboratory Procedures Feed
Genomic sequence analysis of circulating cell-free fetal DNA in maternal blood for chromosomal microdeletions (e.g., DiGeorge syndrome, Cri-du-chat syndrome).
Modifiers may apply depending on the specific circumstances of the service. Consult your local payer's guidelines for modifier use.
Medical necessity for 81422 is established by a clinical indication suggesting the possibility of fetal chromosomal microdeletions. This may include advanced maternal age, abnormal ultrasound findings, family history of relevant genetic conditions, or other clinical concerns that necessitate further evaluation of fetal genetic makeup.
The clinical responsibility lies with the laboratory personnel who perform the DNA isolation, sequencing, analysis, and interpretation of results.Ordering physicians have the responsibility of appropriate patient selection and integration of these results into the overall clinical management of the pregnancy.
- Pathology and Laboratory Procedures
- Genomic Sequencing Procedures and Other Molecular Multianalyte Assays
In simple words: This lab test analyzes a small amount of fetal DNA found in the mother's blood to check for missing pieces of chromosomes that can cause genetic disorders like DiGeorge or Cri-du-chat syndromes. It uses advanced technology to examine the fetal DNA and compare it to a normal reference, helping doctors diagnose possible problems before the baby is born.
This CPT code, 81422, encompasses the comprehensive genomic sequencing analysis of cell-free fetal DNA (cffDNA) obtained from a maternal blood sample. The analysis focuses on identifying chromosomal microdeletions associated with specific genetic syndromes such as DiGeorge syndrome and Cri-du-chat syndrome.The procedure involves isolating cffDNA from maternal blood, a process often utilizing size-based separation techniques like centrifugation. Next-generation sequencing (NGS) technology is typically employed to determine the nucleotide sequence, which is then compared against a reference genome to detect microdeletions. The results aid in prenatal diagnosis of genetic conditions linked to these microdeletions.
Example 1: A pregnant woman undergoes non-invasive prenatal testing (NIPT) to screen for potential chromosomal abnormalities.The test reveals a potential microdeletion consistent with DiGeorge syndrome. Further genetic counseling and follow-up are recommended., A pregnant woman with a family history of Cri-du-chat syndrome opts for NIPT to assess the risk of her fetus inheriting the condition. The 81422 test is performed, and the results are negative for the characteristic deletion., A patient presents with ambiguous findings in a previous ultrasound.The physician orders 81422 testing to further investigate the possibility of chromosomal microdeletions contributing to the ultrasound findings.
* Patient demographics and relevant medical history including family history of chromosomal abnormalities.* Information about the pregnancy, including gestational age.* Confirmation of informed consent for the genetic testing.* Detailed laboratory reports including sequencing data and interpretation.* Documentation of clinical indication for testing.
** This code should not be reported along with codes 81228, 81229, 88271.The test result may contain information regarding copy number variations, but these are not specifically reported separately under this code. Results should be interpreted in conjunction with clinical findings.
- Payment Status: Active
- Modifier TC rule: Not applicable.This is a comprehensive laboratory test.
- Specialties:Obstetrics, Maternal-Fetal Medicine, Genetics
- Place of Service:Laboratory