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RMRP Gene Sequencing




  • 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


CPT Codes*


ABN Required


Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Dried Blood Spots

*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.