- Áreas de investigación
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- Biología y Biomedicina
- Grupo
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- Proteómica, Genómica y Metabolómica
- Subgroup
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- Genómica
Telomer length determination
| Support unit | Support unit Information | Selected service | Other services |
|---|---|---|---|
|
IIBM - Madrid |
Service general data
Service data
- Support unit: TELOMEROPATÍAS
- Institute: INSTITUTO DE INVESTIGACIONES BIOMEDICAS SOLS-MORREALE
- Locality: Madrid (Madrid)
- Service's web: http://www.iib.csic.es
Service's description
Este servicio ofrece al Sistema Nacional de Salud y a centros medicos privados nacionales e internacionales, una plataforma altamente especializada para el estudio de la longitud telomérica, su regulación y el análisis de mutaciones asociadas con acortamiento telomérico. El servicio esta especializado en telomeropatías, especialmente disqueratosis congenita, anemia aplásica y fibrosis pulmonar.
Telomer length determination
Benefit description
1-Determination of telomere length (TL) by Q-PCR using oral swabs: For this analysis we provide: an informed consent that contains personal data necessary for the TL analysis, and oral swabs, that we will send by commercial messenger to people interested in the analysis. The signed informed consent and the swabs will be returned to the IIB facility by the messenger service and we will extract the DNA and the analysis of TL by Q-PCR in triplicates. We will use as controls samples from the same age range of the patient or relative. We will provide the analysis of the results relative to the TL and to the percentile respect to the control population of similar age. 2- Determination of telomere length (TL) by southern blot using peripheral blood. For this analysis we provide: an informed consent that contains personal data necessary for the TL analysis that we will send by E-mal to the clinicians. Blood should be recovered in EDTA tubes, and the volume between 4 to 5 mls depending on the possibilities (age) and stage of the patient. The tubes with blood and the signed informed consent will be delivered to the IIB facility by messenger. We will proceed to extract the genomic DNA and to the analysis on medium TL by southern blot (by duplicates). We will provide the results as average telomere length obtained by a bio-informatic analysis of the southern blot and we will inform the results of the TL and to the percentile respect to the control population of similar age.| Options | Unit | Public Sector | Other customers |
|---|---|---|---|
| determinacion longitud telomerica oral swabs | € / muestra en dupl. | 161.81 € | 177.22 € |
| Determinación longitud telomérica por southern | € / muestra dupl. | 211.22 € | 231.34 € |
Other services
- Apoyo en el procesado y análisis de datos
- Ensayo de actividad telomerasa
- Ultrasecuenciación: Secuenciación de exoma completo.
- Estudio genético de familias y fratrías
- Ensayos de inmunohistoquimica relacionados con telomeropatías.
- Determinación de los niveles de expresión de RNAs de los genes de los complejos telomerasa y shelterina