Cartilage-Hair Hypoplasia (RMRP) Targeted Testing

AKA: Metaphyseal Chondrodysplasia
Short Name: RMRP Targeted

Cartilage-hair hypoplasia is an autosomal recessive disorder. It is characterized by short-limbed stature and fine, sparse hair. The disorder is caused by pathogenic variants in the RMRP gene encoding the RNA component of a mitochondrial ribonuclease complex. This targeted test will specifically analyze the common founder mutation, n.71A>G which has been reported in the Finnish and Old Order Amish populations.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 250250
MedGen: 67398