Summary & Overview

CPT 0094U: Rapid Whole Genome Sequencing for Newborns and Infants

CPT code 0094U designates a Proprietary Laboratory Analyses (PLA) test: the RCIGM Rapid Whole Genome Sequencing assay for newborns and infants. This code covers a single rapid whole genome sequencing test performed on one blood specimen to detect genetic markers for thousands of conditions in neonates and infants with unexplained constitutional or inherited disorders. The designation as a PLA code means it applies uniquely to the RCIGM test.

Nationally, rapid genomic testing in critically ill newborns is clinically significant because it can shorten diagnostic timelines, inform acute clinical management, and impact family counseling. Payers evaluated in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find an overview of payer coverage patterns, coded benchmarks, relevant policy developments affecting PLA codes, and the clinical context for use of rapid whole genome sequencing in neonatal and pediatric care. The publication also summarizes common billing practices and documentation points to support claims for PLA-coded genomic tests.

Data not available in the input for specific associated taxonomies, ICD-10 diagnoses, related codes, and service-line level financial benchmarks is noted where applicable in the full publication.

AetnaBlue Cross Blue ShieldCigna HealthUnitedHealthcareMedicare0094UCPTProprietary Laboratory Analyseswhole genome sequencingneonatal genomicsgenetic testingRCIGMPLA codenewborn screening

Billing Code Overview

CPT code 0094U is a Proprietary Laboratory Analyses (PLA) code for the RCIGM Rapid Whole Genome Sequencing test from Rady Children's Institute for Genomic Medicine (RCIGM). The code applies to a single, specific laboratory test that uses high-speed rapid whole genome sequencing of a single blood specimen to screen for genetic markers associated with thousands of diseases in newborns and infants with unexplained constitutional or inherited disorders.

Service type: Rapid whole genome sequencing for diagnostic genetic screening in newborns and infants.

Typical site of service: Hospital inpatient and neonatal intensive care units (NICU), hospital outpatient settings, and specialized diagnostic laboratories equipped for rapid genomic analysis.

Clinical & Coding Specifications

Clinical Context

A full-term or preterm newborn admitted to the neonatal intensive care unit (NICU) with unexplained acute encephalopathy, multisystem organ dysfunction, refractory seizures, or a rapidly progressive metabolic crisis undergoes urgent genetic evaluation. The infant has non-diagnostic standard metabolic screening, neuroimaging showing diffuse abnormalities, and an unclear etiology despite initial workup. The clinical team submits a single blood specimen for rapid whole genome sequencing using the RCIGM Rapid Whole Genome Sequencing test reported with 0094U. The laboratory performs high-speed sequencing and bioinformatic analysis, returning pathogenic or likely pathogenic variants that may explain the clinical presentation within a shortened turnaround time to guide therapy, prognosis, and family counseling. Typical workflow steps: order placement by neonatologist or pediatric geneticist; blood draw (EDTA tube) and specimen shipment per RCIGM instructions; sequencing, variant interpretation, and confirmation as required; result report delivered to ordering clinician; multidisciplinary review of findings for treatment decisions and genetic counseling.

Coding Specifications

Modifier	Description	When to Use
`26`	Professional component	Use when billing only the professional (interpretation/report) portion if facility bills technical component separately.

Taxonomy Code	Specialty	Notes
2080P0200X	Clinical Molecular Genetics	Specialists who order or interpret genome sequencing results.
207Q00000X	Pediatric Genetics	Pediatric geneticists managing infants with suspected genetic disorders.
207L00000X	Pediatrics	Neonatologists and pediatric hospitalists coordinating acute care and test ordering.
2085S0113X	Laboratory Geneticist	Laboratory directors overseeing testing quality and interpretation.
363A00000X	Pathology & Laboratory Medicine	Clinical laboratory professionals involved in test performance.

Related Diagnoses

ICD-10 Code	Description	Clinical Relevance
`P90`	Neonatal seizures	Common presentation prompting rapid genomic evaluation to identify genetic epilepsies.
`P21.9`	Birth asphyxia, unspecified	Encephalopathy after perinatal insult where sequencing may help distinguish genetic causes from hypoxic injury.
`E88.89`	Other metabolic disorders	Metabolic presentations that rapid genome sequencing can help diagnose.
`G40.9`	Epilepsy, unspecified	Refractory or early-onset epilepsy in infants often triggers genomic testing.
`R62.0`	Delayed milestone in childhood	Early unexplained developmental delay may prompt genomic evaluation in infants and young children.
`Q87.8`	Other specified congenital malformation syndromes affecting multiple systems	Multisystem congenital anomalies of unclear etiology where whole genome sequencing can identify syndromic causes.
`P96.9`	Neonatal disorder, unspecified	Non-specific neonatal deterioration leading to broad genetic testing.

Related CPT Codes

CPT Code	Description	Relationship to This Procedure
`81415`	Exome sequencing (including genomic sequence analysis), clinical diagnostic, interpretation and report	May be ordered when exome sequencing is the chosen diagnostic modality instead of whole genome sequencing; alternate comprehensive genomic test.
`81416`	Exome or genome sequencing, reanalysis and interpretation when performed after initial analysis	Used for follow-up reanalysis of genomic data if additional interpretation is performed later.
`88249`	Molecular cytogenetics; other (e.g., chromosomal microarray)	Chromosomal microarray is often performed alongside sequencing to detect copy number variants not identified by some sequencing pipelines.
`80053`	Comprehensive metabolic panel	Common concurrent laboratory testing in critically ill neonates to assess metabolic status during genetic workup.
`99291`	Critical care, evaluation and management of the critically ill or critically injured patient; first 30-74 minutes	Used by intensivists providing critical care management while genomic testing is pursued and results are acted upon.