Functions

Services provided for the genetic diagnosis of dyskeratosis congenita (DC), aplastic anemia (AA) and Idiopathic Pukmonary Fibrosis (IPF) patients

- Telomere length analysis in peripheral blood from AA, DC and IPF suspected patients by quantitative PCR or Southern blot.
- Telomere length analysis in oral swabs from AA, DC and IPF suspected patients by quantitative PCR or Southern blot.
- Search for nucleotide-sequence variants in the DKC gene
- Search for nucleotide-sequence variants in the hTR gene
- Search for nucleotide-sequence variants in the hTERT gene
- Search for nucleotide-sequence variants in the TINF2 gene
- Search for nucleotide-sequence variants in the NOLA2 gene
- Search for nucleotide-sequence variants in the NOLA3 gene