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RMRP Del/Dup

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:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
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 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)

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