Genomics Services
 
 
Cystic Fibrosis (CFTR Mutation)
Cystic Fibrosis is a genetic disorder that causes severe damage to lungs and digestive system. People with CF inherit a defective gene that causes a build up of thick mucus in the lungs, pancreas and other organs. Manifestation of symptoms are usually pulmonary but it may get worst if not treated timely. CF is caused by mutations in a gene that produces a protein, called Cystic Fibrosis Transmembrane Conductance Regulator. The CFTR protein controls the ow of salt and water in and out of the cells of organs like the lungs and pancreas. The people with single defective CFTR gene are called carriers, a person must inherit two copies of the defective CFTR gene — one copy from each parent. The most common CFTR mutation is a deletion of just three DNA nucleotides, which leads to the deletion of an amino acid (phenylalanine) at position 508 of the protein sequence. Xcelris identifies (total 32) causative point mutations in CFTR gene.

Sample Type

Blood Sample: 5 ml blood in EDTA Vacutainer at 2-8°C

Amniotic Fluid: Min.20ml of Amniotic fluid / CVS in transfer buffer in a sterile container along with blood sample of both parents in EDTA Vacutainer.
 
Brochure           inquiry
 
 
Beta Thalassemia   |   Sickle Cell Anemia   |   MTHFR (Methylenetetrahydrofolate reductase)
Lactose Intolerance   |   Cystic Fibrosis (CFTR Mutation)
Biotinidase Deficiency   |   Hereditary Hemochromatosis
 
 
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