Reproductive Medicine

Recessive Diseases Panel


Introduction: Some genetic diseases, known as recessive diseases, manifest themselves when a variant or mutation is present in the same gene of both parents. This means that both the mother and the father must pass him the gene affected the child so that he develops the recessive disease.
The screening of carriers of hereditary genetic diseases, is a study that allows to analyze the 4 most frequent rare diseases in a complete way. About the exam: The study of the panel of most frequent recessive diseases determines the possibility of being a carrier or affected of: Cystic Fibrosis by means of the complete sequencing and determination of large deletions of the CFTR gene, Spinal muscular atrophy by studying the corresponding large deletions SMN1 and 2 , Duchenne by deletion and complete sequencing of the DMD gene and fragile X through TP-PCR determining the triplet in the FMR1 gene.
Genes or alleles analized: CFTR, SMN1 y 2,DMD & Fragile X Technique used: NGS/MLPA/Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 25 business days In case you have any questions, get in touch.




Cystic Fibrosis - Sequencing & Rearrangements


Introduction: Cystic Fibrosis (CF) is a genetic disease of autosomal recessive inheritance, characterized by dysfunction of exocrine secretion glands. The fundamental defect is due to the failure of chlorine cell secretion.
The gene responsible for the defect is located on chromosome 7; it encodes a protein called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR): a channel activated by cyclic AMP that conducts chlorine through the membranes of epithelial cells and regulates other channels.
It is essential to confirm the diagnosis of CF at the appropriate time and with a high degree of adequacy, to avoid unnecessary tests, provide adequate treatment, genetic counseling and ensure access to specialized services. About the exam: Study to determine the presence of variants in the CFTR gene, causing Cystic Fibrosis. All the exonic regions of the gene and the border intron regions are studied. As well as the study of large rearrangements by MLPA. Cystic Fibrosis (CF) is an autosomal recessive disease, which requires the presence of 2 variants that cause CF in TRANS to confirm the molecular diagnosis of this disease. Genes or alleles analized: CFTR Technique used: NGS & MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 25 business days In case you have any questions, get in touch.




Carriers of Monogenic Diseases Study (Horizon)


Introduction: Some people would like to have more information about the probability of having a child with a genetic disease before pregnancy. About the exam: Horizon tests up to 274 genetic diseases.
Genes or alleles analized: Carriers of monogenic diseases study Technique used: -- Sample type: Whole blood (EDTA, hemogram tube), 10 mL Results delivered in: 20 business days In case you have any questions, get in touch.




Preimplantation Genetis Screening (PGS)


Introduction: The selection of euploid embryos (2n = 46) increases the likelihood of implantation and drastically improves success rates in IVF. Embryos free of aneuploidies are more likely to result in a pregnancy that comes to term and with a healthy baby. It also decreases the rates of abortion, since many of the trisomies analyzed are not compatible with life, therefore at some point in the evolution of pregnancy an abortion will occur. About the exam: The Preimplantation Genetic Screening is a study that allows us to evaluate the embryo prior to its implantation, from the genetic point of view, specifically with regard to chromosomal aneuploidies (alterations in the number of copies of the chromosomes). In this way, you can choose those who do not have aneuploidies to be transferred and thus increase the chances of achieving pregnancy. Genes or alleles analized: Entire genome amplification at low coverage (0.01X) Technique used: NGS Sample type: Trophoectoderm biopsy, 5-10 cells // WGA, 20 uL Results delivered in: 15 business days In case you have any questions, get in touch.




Preimplantation Genetic Diagnosis (PGD)


Introduction: The Preimplantation Genetic Diagnosis (PGD) is a study that allows to evaluate the presence of certain mutations causing disease in the embryo prior to its transfer, detecting embryos that will develop a hereditary disease of which their parents are carriers. It also identifies those embryos that are going to be carriers of the disease and those that do not carry any of these variants. About the exam: When one or both members of the couple are carriers of a dominant, recessive or X-linked disease, it is possible to determine in their embryos the presence or absence of the mutation (s) causing the disease. In this way it is possible to choose a free embryo for the transfer. In order to carry out this study, it is necessary to know in advance the variant or causes of illness that their parents carry. Genes or alleles analized: Detection of mutations causing the disease under study. Technique used: NGS Sample type: Trophoectoderm biopsy, 5-10 cells // WGA, 20 uL and whole blood samples (EDTA, hemogram tube) 2.5mL of the parents and other relatives. Results delivered in: 45 business days In case you have any questions, get in touch.





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