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The CPT® Code 81414 pertains to the genetic analysis of cardiac ion channelopathies, which are disorders caused by mutations in genes that encode ion channels critical for the electrical activity of the heart. This specific code is used for a duplication/deletion gene analysis panel that must include the analysis of at least two genes, specifically KCNH2 and KCNQ1. Cardiac ion channelopathies encompass a range of conditions, including Brugada syndrome, long QT syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). These conditions can lead to serious cardiac arrhythmias or even sudden cardiac arrest, often triggered by specific factors, despite the absence of structural heart anomalies. Brugada syndrome is associated with mutations in the SCN5A gene, which affects sodium channels in the heart, leading to symptoms such as syncope and sudden death, particularly during rest or sleep. Triggers for this syndrome can include fever and large meals. Long QT syndrome, which is primarily linked to mutations in the SCN5A, KCNQ1, and KCNH2 genes, affects potassium ion channels and can result in life-threatening arrhythmias. CPVT is characterized by a bi-directional arrhythmia that is often provoked by physical exertion or emotional stress. Short QT syndrome is similarly influenced by disturbances in potassium ion channels. In addition to the aforementioned genes, mutations in the RYR2 and CASQ2 genes can affect calcium ion channels, while other genes such as ANK2, CAV3, KCNE1, and KCNE2 may disrupt the function of sodium, potassium, or calcium ion channels in the heart. Genetic testing, as indicated by CPT® Code 81414, plays a crucial role in 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, followed by genomic sequencing analysis using advanced techniques such as chip-based oligonucleotide hybridization and direct sequencing of targeted exons, as well as other methods to detect specific gene mutations.
© Copyright 2025 Coding Ahead. All rights reserved.
Cardiac Ion Channelopathies Genetic testing is indicated for individuals suspected of having cardiac ion channelopathies, which include conditions such as Brugada syndrome, long QT syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). These conditions may present with symptoms such as syncope, arrhythmias, or sudden cardiac arrest, particularly in the absence of structural heart anomalies.
Step 1: Sample Collection A blood sample is obtained from the patient through a venipuncture procedure. This sample serves as the source for genetic analysis.
Step 2: Genomic Sequencing The collected whole blood is subjected to genomic sequencing analysis. This involves chip-based oligonucleotide hybridization and direct sequencing of the protein-coding regions and flanking areas of targeted exons, focusing on at least 10 genes, including KCNH2 and KCNQ1.
Step 3: Duplication/Deletion Analysis In addition to sequencing, other advanced techniques such as ultra-high resolution microarray-based comparative genomic hybridization (array CGH) or sequencing/denaturing high-performance liquid chromatography (dHPLC) are employed. These methods are specifically used to identify any deletion or duplication mutations in at least two genes, including KCNH2 and KCNQ1.
After the genetic testing procedure, results are typically analyzed and interpreted by a qualified healthcare professional. The findings can provide critical information for confirming a diagnosis of cardiac ion channelopathies, assessing the risk for family members, and guiding treatment options. Patients may require follow-up consultations to discuss the implications of the test results, potential management strategies, and genetic counseling for affected families. It is important to monitor patients for any symptoms that may arise and to provide appropriate care based on the genetic findings.
| Short Descr | CAR ION CHNNLPATH INC 2 GNS | Medium Descr | CAR ION CHNNLPATH DUP/DEL GN ALYS PANEL 2 GENES | Long Descr | Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); duplication/deletion gene analysis panel, must include analysis of at least 2 genes, including KCNH2 and KCNQ1 | 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. | GW | Service not related to the hospice patient's terminal condition | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service |
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| 2017-01-01 | Added | Added |
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