PCNT single gene test
Test code: S01371
- Microcephalic osteodysplastic primordial dwarfism
Alternative gene name
KEN, KIAA0402, PCN, PCNTB, SCKL4
Panels that include the gene
- Skeletal Dysplasias Core Panel
- 3-M Syndrome / Primordial Dwarfism Panel
- Comprehensive Skeletal Dysplasias and Disorders Panel
- Microcephaly and Pontocerebellar Hypoplasia Panel
- Comprehensive Skeletal / Malformation Syndrome Panel
- Seckel Syndrome Panel
- Comprehensive Short Stature Syndrome Panel
For pricing inquiries, please contact (firstname.lastname@example.org) 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.