qSeq easy® CFTR. Cystic fibrosis

qSeq easy® CFTR consists of the complete sequencing (exons, intronic regions, exon-intron boundaries, etc.) and analysis of the CFTR gene responsible for cystic fibrosis using NGS.

Mutations in the gene encoding for the transmembrane conductance regulator(CFTR / ABBCC7; MIM # 602412) cause an abnormal transport of chloride ions (Cl-) through the membranes of epithelial cells in cystic fibrosis patients, affecting multiple organs, e.g. lung, pancreas, sweat glands and vas deferens (in male patients), among others.

Mutations in CFTR are responsible for serious diseases, such as chronic idiopathic pancreatitis (MIM # 167800), bronchiectasis (MIM # 211400) or cystic fibrosis (FQ, MIM # 219700), which shows high prevalence in caucasian population, with carrier frequencies of carriers of up to 1 in 20.

At qGenomics we are pioneers in the use of new technologies for the molecular study of the complete gene. In collaboration with a team of tear one geneticists and scientists (Dr. Teresa Casals – IDIBELL and Dr. Xavier Estivill – CRG), we have developed and tested [1] a method based on NGS technology for the complete analysis (exons, introns and regulatory regions), uniform and without bias, of the CFTR gene in one single experiment, saving time and resources. This assay allows for the identification of any type of mutation present in any location of CFTR with high reliability.

Although the CFTR gene was discovered more than 20 years ago, its genetic analysis is complex due to the high diversity of alleles and mutations (> 1,900 today). Although the most prevalent mutations explain a very high percentage of cases, in many cases it is necessary to sequence the entire gene to find second mutations that may cause specific phenotypes associated with CFTR. The identification of the causative mutations of the disease is essential for effective case management and adequate genetic counseling for responsible family planning, or to determine the risk for other family members.

1. Trujillano et al, J Med Genet, online First: 17/05/2013.DOI:10.1136/jmedgenet-2013-101602.

Turn-around time: 20 working days from sample reception.

GeneAssociated phenotypeOMIM dissease ID
CFTRCystic Fibrosis219700

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How to order a test
  1. Identify the adequate test from our service catalogue.
  2. Prepare the test application form and fill in all the information available both for the sample and the clinical record to guarantee highest quality of test results and shortest response time.
  3. It is crucial to correctly identify the sample with patient name or identifier and date of birth.
  4. Print the completed application form and sign it.
  5. Collect the required sample quantity.
  6. Properly prepare the sample shipment along with the application form.
  7. Alternatively, the order can be processed conveniently via our online order platform.
Required specifications for biologic samples
  • Blood – 1 EDTA tube with 3-5 ml (children 1ml minimum)
  • Purified DNA – usually >5 ug, at >50 ng/ul
  • Saliva or buccal swab – Request collection kit
  • Blood on filter paper – A minimum of 10 spots on Guthrie card or filter paper
  • Amniotic fluid – Minimum of 10 ml
  • CVS – Minimum of 2-3 villi
  • Cord blood – Minimum 1 ml
  • Cultured cells – 1 vial of 25 ml, minimum 80% confluence
  • Biopsy or fresh tissue – More than 10 mg of tissue
  • Paraffin-embedded tissue – At least 10 cuts of 20 um
  • cfDNA – 1 tube DNA BCT Streck with 10 ml of blood
How to prepare your sample for shipping

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.