Summary & Overview
CPT 81248: Targeted G6PD Familial Variant Analysis
Headline: CPT code 81248 — Targeted G6PD Familial Variant Analysis
Lead: CPT code 81248 identifies a targeted molecular diagnostic test for known familial variants of the glucose–6–phosphate dehydrogenase (G6PD) gene. This code applies to laboratory analyses that confirm or exclude specific inherited G6PD variants in patients with relevant clinical or family histories.
CPT code 81248 represents a focused genetic test that detects previously identified familial G6PD variants. Nationally, targeted G6PD testing matters for neonatal care, hemolytic anemia evaluation, and medication safety, because identifying pathogenic G6PD variants can guide clinical management and prevent hemolytic events.
Key payers covered in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find concise benchmarks and payer coverage considerations, clinical context for use of targeted familial variant testing, and coding essentials tied to laboratory service delivery. The overview outlines when targeted variant analysis is used versus broader sequencing approaches and where such testing is typically performed (clinical molecular diagnostics or reference laboratories).
What readers will learn: payer coverage landscape and common payer considerations, clinical indications and utility of targeted G6PD familial testing, and operational context for laboratories billing CPT code 81248. Data not available in the input for detailed benchmarks or policy updates.
Billing Code Overview
CPT code 81248 describes a laboratory test that analyzes known familial variants of the glucose–6–phosphate dehydrogenase (G6PD) gene. The service focuses on targeted genetic analysis of previously identified familial G6PD variants rather than broad sequencing.
Service type: Molecular genetic test — targeted variant analysis
Typical site of service: Clinical molecular diagnostics laboratory / reference laboratory
Clinical & Coding Specifications
Clinical Context
A 28-year-old male of Mediterranean descent with a family history of glucose-6-phosphate dehydrogenase (G6PD) deficiency presents to a hematology clinic for genetic counseling after a prior episode of hemolytic anemia following sulfa antibiotic exposure. The ordering clinician requests targeted molecular testing for known familial G6PD gene variants to confirm carrier status and guide medication avoidance. A phlebotomy draw is performed in the outpatient laboratory; the specimen is sent to a molecular diagnostics laboratory where the lab analyst performs the technical testing to detect the specified familial variants in the G6PD gene. Results are reported to the ordering clinician and genetic counselor for patient counseling and medication management. Typical site of service is an outpatient hospital or commercial clinical molecular laboratory with specimens collected in an outpatient clinic or phlebotomy center.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when billing only the professional interpretation component if separated from the technical service. |
TC | Technical component | Use when billing only the technical component (laboratory testing) without professional interpretation. |