Forms and Documents
- 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
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 404.2 Abnormalities of the hair
- 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
- 783.4 Lack of expected normal physiological development in childhood
- 733 Other disorders of bone and cartilage
**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.
- 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)
- 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)
- 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)