RMRP Gene Sequencing
Genes
Conditions
- Cartilage-Hair Hypoplasia
- Anauxetic Dysplasia
- Metaphyseal Dysplasia without Hypotrichosis
Clinical Utility
- Confirmation of a clinical diagnosis
- Differentiation between CHH and other causes of dwarfism
- Identification of patients at increased risk of infections or cancer
- Prenatal diagnosis
Lab Method
- Capillary Sequencing
Test Code
225
CPT Codes*
81479x1
ABN Required
No
Turnaround Time**
3 weeks
Preferred Specimen
Alternative Specimen
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Test Documents
Billing
Targeted Variant Testing