Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

RMRP Del/Dup



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:
Exon Array CGH


Test Code:
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 733: Other disorders of bone and cartilage
  • 783.4: Lack of expected normal physiological development in childhood
  • 757: Congenital anomalies of the integument; Includes: anomalies of skin, subcutaneous tissue, hair, nails, and breast
  • 259.4: Dwarfism, not elsewhere classified Dwarfism: NOS constitutional
  • 404.2: Abnormalities of the hair
* For price inquiries please email


  1. Ridanpaa M, et al., Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia Cell 104:195-203 (2001)
  2. Bonafe L, et al., RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of singlenucleotide polymorphisms Clin Genet 61:146-151 (2002)
  3. Ridanpaa, M, et al., Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70AG mutation of the untranslated RMRP Eur J of Hum Genet 10:439-447 (2002)

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