CPT® Code 81426 | Case2Code

Official Description

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

Common Language Description

Molecular genetic testing, specifically genome sequencing, involves a comprehensive analysis of both coding and non-coding regions of DNA to identify genetic disorders. This testing is particularly valuable for patients exhibiting unexplained constitutional or heritable disorders or syndromes. The process utilizes advanced techniques such as next-generation sequencing (NGS) to analyze the genome at a deep level, allowing for the detection of rare genetic conditions that may not be evident through standard testing methods. Whole genome sequencing (WGS) serves as a cost-effective approach for diagnosing unusual symptoms in patients and for assessing carrier status in healthy individuals who may be at risk for familial diseases. Additionally, it can help identify predispositions to adult-onset medical conditions. The procedure begins with the collection of a blood sample through a venipuncture, which is essential for obtaining the DNA necessary for analysis. The results of this testing can provide critical insights into genetic conditions, guiding further medical management and family planning. The CPT® code 81426 specifically pertains to the sequence analysis of a comparator genome, such as that of a parent or sibling, and is reported separately in conjunction with the primary procedure code for the patient's genome analysis.

1. Indications

The procedure is indicated for the following conditions:

Unexplained Constitutional Disorders Genetic testing is performed to investigate unexplained constitutional disorders that may have a hereditary basis.
Heritable Syndromes The analysis is utilized for patients presenting with heritable syndromes that require further genetic evaluation.
Carrier Status Identification Healthy individuals may undergo testing to determine their carrier status for familial diseases or disorders.
Predisposition to Adult-Onset Conditions The procedure can help identify genetic predispositions to conditions that may manifest in adulthood.

2. Procedure

The procedure involves several key steps to ensure accurate genome analysis:

Step 1: Sample Collection A blood sample is obtained from the patient through a venipuncture. This sample serves as the source of DNA for subsequent analysis.
Step 2: DNA Extraction The DNA is extracted from the collected blood sample, isolating the genetic material necessary for sequencing.
Step 3: Next-Generation Sequencing The extracted DNA undergoes next-generation sequencing (NGS), a high-throughput method that allows for the comprehensive analysis of the genome, including both coding and non-coding regions.
Step 4: Comparator Genome Analysis In conjunction with the primary genome analysis, the comparator genome (from a parent or sibling) is analyzed to identify genetic variations that may contribute to the patient's condition.
Step 5: Data Interpretation The sequencing data is interpreted to identify any genetic variants that may be associated with the patient's unexplained symptoms or heritable conditions.

3. Post-Procedure

After the procedure, the patient may be advised on the next steps based on the results of the genetic testing. This may include genetic counseling to discuss the implications of the findings, potential risks for family members, and options for further testing or management. The results can also guide treatment decisions and inform family planning considerations. It is important for patients to understand the significance of the results and how they may impact their health and that of their relatives.

Short Descr	GENOME SEQUENCE ANALYSIS
Medium Descr	GENOME SEQUENCE ANALYSIS EACH COMPARATOR GENOME
Long Descr	Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator genome (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.

81425

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