CPT® Code 81413

Official Description

Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); genomic sequence analysis panel, must include sequencing of at least 10 genes, including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A

Common Language Description

The CPT® Code 81413 pertains to a genomic sequence analysis panel specifically designed to identify mutations associated with cardiac ion channelopathies, which include conditions such as Brugada syndrome, long QT syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). These ion channelopathies can lead to serious cardiac issues, including arrhythmias and sudden cardiac arrest, often triggered by specific stimuli, despite the absence of structural heart anomalies. The analysis must encompass the sequencing of at least ten genes, which are critical in the functioning of ion channels in the heart. Among these genes are ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A. The SCN5A gene, in particular, is known for its role in encoding sodium channels within cardiac muscle, and mutations in this gene are closely linked to Brugada syndrome, which can manifest as syncope or sudden death, particularly during rest or sleep. Triggers for these events may include fever or large meals. CPVT is characterized by a unique bi-directional arrhythmia that is often provoked by physical exertion or emotional stress. In the case of long QT syndrome, a significant majority of gene mutations (approximately 80-90%) are found in the SCN5A, KCNQ1, and KCNH2 genes, which are responsible for potassium ion channels that play a vital role in cardiac, nerve, and immune cell function. Short QT syndrome is similarly influenced by disturbances in potassium ion channels. Additionally, mutations affecting calcium ion channels can be identified in the RYR2 and CASQ2 genes. Other genes such as ANK2, CAV3, KCNE1, and KCNE2 may also contribute to the disruption of sodium, potassium, or calcium ion channels in the heart. Genetic testing through this genomic sequence analysis is essential for confirming diagnoses, providing risk stratification for symptomatic patients, identifying at-risk family members or silent carriers, guiding treatment strategies, and facilitating genetic counseling. The testing process involves obtaining a blood sample through venipuncture, which is reported separately. The analysis utilizes advanced techniques such as chip-based oligonucleotide hybridization and direct sequencing of the protein-coding regions and adjacent areas of the targeted exons for the specified genes.

1. Indications

The genomic sequence analysis panel represented by CPT® Code 81413 is indicated for the evaluation of patients who may be experiencing symptoms or conditions associated with cardiac ion channelopathies. These indications include:

Brugada Syndrome - A condition characterized by specific ECG changes and an increased risk of sudden cardiac death.
Long QT Syndrome - A disorder that affects the heart's electrical activity, leading to prolonged QT intervals and potential life-threatening arrhythmias.
Short QT Syndrome - A rare condition that results in abnormally short QT intervals, which can also lead to arrhythmias.
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) - A genetic condition that causes arrhythmias triggered by exercise or emotional stress.

2. Procedure

The procedure for conducting the genomic sequence analysis panel under CPT® Code 81413 involves several critical steps to ensure accurate identification of mutations associated with cardiac ion channelopathies. These steps include:

Step 1: Sample Collection - A blood sample is obtained from the patient through a venipuncture procedure. This sample is essential for the subsequent genomic analysis and must be reported separately.
Step 2: DNA Extraction - The collected blood sample undergoes processing to extract DNA, which serves as the template for the genomic analysis.
Step 3: Genomic Sequencing - The extracted DNA is subjected to chip-based oligonucleotide hybridization and direct sequencing techniques. This process focuses on the protein-coding regions and flanking areas of at least ten specific genes, including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A.
Step 4: Data Analysis - The sequencing results are analyzed to identify any mutations present in the targeted genes. This analysis is crucial for diagnosing the specific cardiac ion channelopathy affecting the patient.
Step 5: Reporting Results - The findings from the genomic analysis are compiled into a report that details any identified mutations, which can then be used for clinical decision-making, risk assessment, and genetic counseling.

3. Post-Procedure

After the genomic sequence analysis is completed, the patient may receive counseling based on the results. This counseling can include discussions about the implications of any identified mutations, potential treatment options, and the importance of informing family members who may also be at risk. Additionally, healthcare providers may recommend follow-up testing or monitoring based on the findings. It is essential for patients to understand the significance of the results and how they may impact their health and the health of their relatives. The overall recovery from the procedure is typically straightforward, as it primarily involves the blood draw, with no significant post-procedure care required.

Short Descr	CAR ION CHNNLPATH INC 10 GNS
Medium Descr	CAR ION CHNNLPATH GENOMIC SEQ ALYS INC 10 GNS
Long Descr	Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); genomic sequence analysis panel, must include sequencing of at least 10 genes, including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A
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.
GA	Waiver of liability statement issued as required by payer policy, individual case
GZ	Item or service expected to be denied as not reasonable and necessary