CPT® Code 81438

Code Deleted. See 81479

Official Description

Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma); duplication/deletion analysis panel, must include analyses for SDHB, SDHC, SDHD, and VHL

Common Language Description

The CPT® Code 81438 pertains to molecular genetic testing specifically designed to identify hereditary neuroendocrine tumor disorders, which include conditions such as medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma, and paraganglioma. These tumors are characterized by their ability to secrete various hormones, including serotonin and histamine, which can lead to significant physiological effects. The testing involves a duplication/deletion analysis panel that must include analyses for the SDHB, SDHC, SDHD, and VHL genes. Each of these genes plays a critical role in cellular functions and tumor suppression. For instance, the MAX gene, associated with pheochromocytoma, encodes a protein that is part of a family involved in regulating gene expression. The SDHB, SDHC, and SDHD genes are essential components of the succinate dehydrogenase enzyme, which is crucial for mitochondrial function and energy production. Mutations in these genes can lead to various hereditary syndromes, including hereditary paraganglioma-pheochromocytoma and Cowden Syndrome, which are linked to multiple tumor types. The VHL gene is a tumor suppressor that, when mutated, can lead to uncontrolled cell growth and the formation of tumors or cysts, contributing to conditions such as von Hippel-Lindau disease. Additionally, the TMEM127 gene functions as a tumor suppressor, inhibiting pathways that promote cell growth and survival. The testing process involves obtaining a blood sample through venipuncture, followed by advanced techniques such as polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) to analyze the specified genes for any duplications or deletions.

1. Indications

The molecular genetic testing represented by CPT® Code 81438 is indicated for the evaluation of hereditary neuroendocrine tumor disorders. These conditions may present with various symptoms and clinical manifestations, including:

Medullary Thyroid Carcinoma - A type of thyroid cancer that arises from the parafollicular C cells, which can lead to elevated levels of calcitonin.
Parathyroid Carcinoma - A rare form of cancer affecting the parathyroid glands, often resulting in hypercalcemia due to excessive parathyroid hormone secretion.
Malignant Pheochromocytoma - A tumor of the adrenal gland that secretes catecholamines, leading to symptoms such as hypertension, palpitations, and sweating.
Paraganglioma - A tumor that arises from the paraganglia, which can also secrete catecholamines and may be associated with hereditary syndromes.

2. Procedure

The procedure for CPT® Code 81438 involves several critical steps to ensure accurate genetic analysis. The process begins with the collection of a blood sample from the patient through a venipuncture, which is a standard method for obtaining whole blood. This sample is essential for the subsequent genetic testing. The whole blood is then subjected to polymerase chain reaction (PCR) techniques, which amplify the DNA for detailed analysis. Specifically, this analysis focuses on the MAX, SDHB, SDHC, SDHD, TMEM127, and VHL genes, which are crucial for identifying mutations associated with hereditary neuroendocrine tumors. In addition to PCR, multiplex ligation-dependent probe amplification (MLPA) is employed to detect large genomic deletions and duplications in the SDHB, SDHC, SDHD, and VHL genes. This dual approach ensures a comprehensive evaluation of the genetic material, allowing for the identification of both point mutations and larger structural changes that may contribute to tumor development.

3. Post-Procedure

After the completion of the genetic testing procedure, the results are typically analyzed and interpreted by a qualified geneticist or pathologist. The findings can provide critical insights into the patient's risk for developing hereditary neuroendocrine tumors and guide further clinical management. Patients may require follow-up consultations to discuss the implications of the test results, including potential surveillance strategies or preventive measures. It is also important to consider that the testing may have implications for family members, as hereditary conditions can be passed down through generations. Therefore, genetic counseling may be recommended to help patients and their families understand the results and make informed decisions regarding their health.

Short Descr	HEREDTRY NURONDCRN TUM DSRDR
Medium Descr	HEREDTRY NURONDCRN TUM DSRDRS DUP/DEL ANALYSIS
Long Descr	Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma); duplication/deletion analysis panel, must include analyses for SDHB, SDHC, SDHD, and VHL
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	Not applicable/unspecified.

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.