Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RMRP Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RMRP
Disorders:
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

ORDERING

Test Code:
225
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 259.4: Dwarfism, not elsewhere classified Dwarfism: NOS constitutional
  • 404.2: Abnormalities of the hair
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

  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)

Back To Top