CPT® Code 81416 | Case2Code

Official Description

Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (List separately in addition to code for primary procedure)

Common Language Description

The CPT® Code 81416 pertains to the process of exome sequence analysis, specifically focusing on the comparative analysis of exomes from family members, such as parents or siblings, in the context of unexplained constitutional or heritable disorders or syndromes. This molecular genetic testing is designed to delve deeply into the exome, which is the portion of the genome that encodes for proteins and is critical for understanding genetic diseases. Whole exome sequencing (WES) is a powerful tool that allows for the identification of disease-causing genetic variants by analyzing a targeted subset of the genome that includes approximately 180,000 exomes. This method is particularly useful for patients who exhibit multiple anomalies and for whom a genetic disorder is suspected. The analysis can reveal variants that are known to cause diseases, variants of uncertain significance, or those that may be suspected of contributing to a genetic condition. The testing process begins with the collection of a blood sample through a venipuncture, which is reported separately. The sample is then subjected to Next Generation Sequencing (NGS) techniques to identify various genomic variants, including single nucleotide variants (SNVs), small insertions or deletions (indels), copy number variants (CNVs), and other structural variants (SVs). It is important to note that while code 81415 is used to report the exome analysis of the patient, code 81416 is specifically designated for the analysis of comparator exomes from family members, thereby providing a comprehensive approach to understanding the genetic underpinnings of the patient's condition.

1. Indications

The indications for performing the exome sequence analysis under CPT® Code 81416 include the following:

Unexplained Constitutional Disorders The procedure is indicated for patients presenting with symptoms that suggest a constitutional disorder but lack a clear diagnosis.
Heritable Syndromes It is utilized when there is a suspicion of a heritable syndrome based on clinical findings, yet the specific genetic cause remains unidentified.
Multiple Anomalies The analysis is appropriate for patients exhibiting multiple congenital anomalies, where a genetic basis is suspected but not confirmed.

2. Procedure

The procedure for exome sequence analysis as described by CPT® Code 81416 involves several key steps:

Step 1: Sample Collection A blood sample is obtained from the patient through a venipuncture. This sample serves as the source of DNA for the subsequent genetic analysis. The collection of the sample must be performed in accordance with standard laboratory protocols to ensure the integrity of the genetic material.
Step 2: DNA Extraction Following the collection, DNA is extracted from the blood sample. This process involves breaking down the cellular components to isolate the DNA, which is crucial for accurate sequencing.
Step 3: Exome Sequencing The extracted DNA undergoes whole exome sequencing (WES), which focuses on the protein-coding regions of the genome. This step utilizes Next Generation Sequencing (NGS) technology to analyze the exome, allowing for the identification of genetic variants that may be associated with the patient's condition.
Step 4: Comparative Analysis The exome data obtained from the patient is then compared to the exomes of family members, such as parents or siblings. This comparative analysis helps to identify inherited variants and assess their potential role in the patient's disorder.
Step 5: Interpretation of Results The results of the sequencing and comparative analysis are interpreted by genetic specialists. They evaluate the identified variants for their clinical significance, determining whether they are known disease-causing mutations, variants of uncertain significance, or benign polymorphisms.

3. Post-Procedure

After the exome sequence analysis is completed, the patient and their family members may receive genetic counseling based on the findings. This counseling is essential for understanding the implications of the results, including the potential for hereditary conditions and the options available for further testing or management. Additionally, follow-up appointments may be scheduled to discuss the results in detail and to address any questions or concerns that may arise. It is important for healthcare providers to document the findings and any recommendations made during the counseling session to ensure continuity of care.

Short Descr	EXOME SEQUENCE ANALYSIS
Medium Descr	EXOME SEQUENCE ANALYSIS EACH COMPARATOR EXOME
Long Descr	Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (List separately in addition to code for primary procedure)
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)	T1H - Lab tests - other (non-Medicare fee schedule)
MUE	2

This is an add-on code that must be used in conjunction with one of these primary codes.

81415

MPFS Status: Statutory exclusion (from MPFS, may be paid under other methodologies) APC A Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis