The exome sequencing strategy allows the capture and sequencing of the coding portion of the human genome. As changes in protein coding regions are responsible for 85% of known genetic diseases, exome sequencing is a powerful tool in a clinical setting.
Capture and sequencing + quality report of the generated sequence, filtering and list of identified variants. Turn-around time: 25 working days from sample reception.
Basic Service + annotation and prioritization of variants + clinical report. Turn-around time: 40 working days from sample reception.
Research Service + validation of the most relevant findings through complementary molecular test (PCR, Sanger sequencing, RFLP, …) for index case and first degree relatives. Turn-around time: 40 working days from sample reception + 15 working days for segregation analysis.
Call us at +34 932.301.270 and we will take care of a smooth sample pick-up and shipping.
How to prepare your sample for shipping?
Blood-EDTA, purified DNA, saliva, blood on paper, cord blood, biopsy, … are stable at room temperature for 3 or 4 days. Samples can be sent, adequately protected, by ordinary mail or courier.
Amniotic fluid (a minimum of 10 ml collected in a sterile falcon test tube). Can be sent at room temperature and low temperatures should be avoided. Samples should reach our laboratory in no more than 24 hours.
Chorionic villi samples must travel in the same way, in a tube with conical bottom FILLED TO CAPACITY with PBS or culture medium.
Cultured cells should be shipped at room temperature, in a culture flask filled to capacity with culture medium.
Blood for cfDNA analysis: must be shipped at room temperature.
Para solicitar un test, simplemente tiene que rellenar el formulario de petición de servicio que se puede descargar en formato PDF editable en esta página, y hacérnoslo llegar junto a la muestra a analizar: