How To Use CPT Code 0094U

CPT 0094U describes a specific laboratory test called the RCIGM Rapid Whole Genome Sequencing test. This article will cover the official description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, and examples of CPT code 0094U.

1. What is CPT Code 0094U?

CPT 0094U is a proprietary laboratory analysis (PLA) code that is used to report the RCIGM Rapid Whole Genome Sequencing test. This test is performed by Rady Children’s Institute for Genomic Medicine (RCIGM) and is designed to screen for genetic markers of thousands of diseases in newborns and infants with unexplained constitutional or inherited disorders. It uses high-speed rapid whole genome sequencing of a single blood specimen to analyze the patient’s genetic material and identify any genetic variants associated with certain conditions.

2. Official Description

The official description of CPT code 0094U is: ‘Genome (eg, unexplained constitutional or heritable disorder or syndrome), rapid sequence analysis.’

3. Procedure

1. The RCIGM Rapid Whole Genome Sequencing test is performed on a blood specimen from a critically ill newborn, infant, or pediatric patient.
2. The test utilizes a next-generation sequencer, which is an automated instrument that determines the order of nucleotides in the patient’s DNA.
3. The patient’s genome is compared to a reference library of normal genomes and variant gene sequences associated with certain conditions.
4. The proprietary genomic and interpretation platform incorporates two algorithms, VAAST (Variant Annotation, Analysis and Selection Tool) and Phevor (Phenotype Driven Variant Ontological Re-ranking Tool), to rapidly identify disease-causing genetic variants in approximately 26 hours.

4. Qualifying circumstances

CPT code 0094U is used for patients with unexplained constitutional or heritable disorders or syndromes. It is specifically designed for newborns, infants, and children who require rapid genomic analysis to identify the genetic basis of their condition. The test is ordered by clinicians to provide targeted treatment and avoid high-risk treatments and surgeries for these patients.

5. When to use CPT code 0094U

CPT code 0094U should be used when reporting the RCIGM Rapid Whole Genome Sequencing test performed by Rady Children’s Institute for Genomic Medicine. It should not be reported with any other CPT code. This code is specific to the proprietary test and should only be used for the appropriate test performed on a single specimen analyzed on a single date of service.

6. Documentation requirements

To support a claim for CPT code 0094U, the following documentation is required:

• Indication of the patient’s unexplained constitutional or heritable disorder or syndrome
• Documentation of the specific test performed, including the name of the test and the laboratory performing it
• Date of service when the test was performed
• Signature of the clinician who ordered the test

7. Billing guidelines

When billing for CPT code 0094U, ensure that the test is performed by Rady Children’s Institute for Genomic Medicine and that it is the appropriate proprietary test. This code should not be reported with any other CPT code. It is important to check with the appropriate payer regarding any specific billing requirements or coverage policies for this test.

8. Historical information

CPT code 0094U is a proprietary laboratory analysis (PLA) code that was added to the Current Procedural Terminology system. It is specific to the RCIGM Rapid Whole Genome Sequencing test and was introduced to the code set on an unspecified date. There have been no updates or changes to this code since its addition.

9. Examples

1. A critically ill newborn undergoes the RCIGM Rapid Whole Genome Sequencing test to identify the genetic basis of their unexplained condition.
2. An infant with a heritable disorder undergoes the RCIGM Rapid Whole Genome Sequencing test to guide targeted treatment options.
3. A pediatric patient with a syndrome of unknown origin undergoes the RCIGM Rapid Whole Genome Sequencing test to provide a definitive diagnosis.
4. A newborn with a constitutional disorder undergoes the RCIGM Rapid Whole Genome Sequencing test to avoid unnecessary high-risk treatments or surgeries.
5. An infant with an inherited disorder undergoes the RCIGM Rapid Whole Genome Sequencing test to identify the specific genetic variant causing the condition.
6. A child with a complex genetic condition undergoes the RCIGM Rapid Whole Genome Sequencing test to inform personalized treatment plans.
7. A critically ill newborn with multiple congenital anomalies undergoes the RCIGM Rapid Whole Genome Sequencing test to identify the underlying genetic cause.
8. An infant with developmental delays undergoes the RCIGM Rapid Whole Genome Sequencing test to provide early intervention and targeted therapies.
9. A pediatric patient with a family history of heritable disorders undergoes the RCIGM Rapid Whole Genome Sequencing test to assess their risk and guide genetic counseling.
10. A newborn with unexplained symptoms undergoes the RCIGM Rapid Whole Genome Sequencing test to provide a timely diagnosis and appropriate medical management.