RMRP single gene test
Test code: S01570
- Cartilage-hair hypoplasia
- Metaphyseal dysplasia without hypotrichosis
- Anauxetic dysplasia
Alternative gene name
RMRPR, RRP2, NME1
Panels that include the gene
- Metaphyseal Dysplasia Panel
- Skeletal Dysplasias Core Panel
- Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel
- Comprehensive Skeletal Dysplasias and Disorders Panel
- Ectodermal Dysplasia Panel
- Primary Immunodeficiency Panel
- Facial Dysostosis and Related Disorders Panel
- Comprehensive Skeletal / Malformation Syndrome Panel
- Severe Combined Immunodeficiency Panel
For pricing inquiries, please contact (email@example.com) or call the sales support team +358 40 2511 372.
Accepted sample types
- EDTA blood, min. 1 ml
- Purified DNA, min. 5μg
- Saliva (Oragene DNA OG-500 kit)
Label the sample tube with your patient’s name, date of birth and the date of sample collection.
Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.