How To Use CPT Code 0335U

CPT 0335U describes the whole genome sequence analysis for rare diseases, including various genetic variants and abnormalities. This article will cover the official description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, and examples of CPT code 0335U.

1. What is CPT Code 0335U?

CPT 0335U can be used to identify genetic variants related to rare heritable disorders through whole genome sequence analysis. This code specifically applies to the IriSight™ Prenatal Analysis – Proband test conducted by Variantyx Inc. The test involves analyzing the entire fetal genome using next-generation sequencing (NGS) to detect small sequence changes, copy number variants, deletions, duplications, inversions, aneuploidy, mitochondrial genome sequence analysis, short tandem repeat (STR) gene expansions, and uniparental disomy (UPD).

2. Official Description

The official description of CPT code 0335U is: ‘Rare diseases (constitutional/heritable disorders), whole genome sequence analysis, including small sequence changes, copy number variants, deletions, duplications, mobile element insertions, uniparental disomy (UPD), inversions, aneuploidy, mitochondrial genome sequence analysis with heteroplasmy and large deletions, short tandem repeat (STR) gene expansions, fetal sample, identification and categorization of genetic variants.’

3. Procedure

1. The lab analyst evaluates a fetal specimen using next-generation sequencing (NGS) of the whole genome and mitochondrial DNA.
2. The test identifies genetic variants related to rare heritable disorders, including small sequence changes, copy number variants, deletions, duplications, inversions, aneuploidy, mitochondrial genome sequence analysis, short tandem repeat (STR) gene expansions, and uniparental disomy (UPD).
3. If variants of concern are detected, the clinician may order paternal testing to evaluate inheritance.

4. Qualifying circumstances

CPT 0335U is used when abnormal ultrasound findings indicate the need for amniocentesis, and there is a medical necessity to evaluate the fetal genome for rare heritable disorders. The test is performed on a fetal sample, and the fetus is considered the proband patient. The test may also involve comparing the findings to parental genomes for inheritance evaluation.

5. When to use CPT code 0335U

CPT code 0335U should be used when there is a clinical indication to analyze the whole genome of a fetal sample for rare heritable disorders. It is not appropriate to report CPT code 0335U in conjunction with codes 81425 or 0212U, as they cover similar genomic evaluations of constitutional/heritable disorders.

6. Documentation requirements

To support a claim for CPT code 0335U, the following documentation is required:

• Indication for the test based on abnormal ultrasound findings
• Details of the fetal sample analyzed
• Date of service
• Specific genetic variants identified and categorized
• Results of any additional parental testing, if performed

7. Billing guidelines

When billing for CPT code 0335U, ensure that the test is performed by Variantyx Inc. for the IriSight™ Prenatal Analysis – Proband. Report one unit of this code for a single specimen analyzed on a single date of service. Do not report CPT code 0335U in addition to codes 0212U or 81425.

8. Historical information

CPT code 0335U was added to the Current Procedural Terminology system on October 1, 2022. There have been no updates or changes to the code since its addition.

9. Examples

1. A pregnant woman undergoes the IriSight™ Prenatal Analysis – Proband test using a fetal sample to identify genetic variants associated with a rare heritable disorder.
2. An abnormal ultrasound prompts a clinician to order the whole genome sequence analysis using CPT code 0335U to evaluate a fetal sample for rare heritable disorders.
3. A fetal sample is analyzed using next-generation sequencing (NGS) to detect genetic variants related to constitutional/heritable disorders, utilizing CPT code 0335U.
4. A clinician orders the IriSight™ Prenatal Analysis – Proband test for a fetal sample to identify and categorize genetic variants associated with rare diseases, reporting CPT code 0335U.
5. Based on clinical symptoms and ultrasound findings, a pregnant patient undergoes the whole genome sequence analysis using CPT code 0335U to evaluate the fetal genome for rare heritable disorders.