Clinical Genetics

Most frequent trisomies


Introduction: Chromosomal aneuploidies are one of the causes of spontaneous interruption of pregnancies, therefore knowing their existence or not in a sample allows us to adjudicate the cause of said interruption.
About the exam: Genetic study for the detection of trisomies of chromosomes 13, 18, 21 and aneuplidia on chromosomes X and Y.
Genes or alleles analized: Microsatellites Technique used: Fragment CE Sample type: Curettage material // Amniotic fluid // Chorionic villus and whole blood (EDTA, hemogram tube) from the mother Results delivered in: 7 business days In case you have any questions, get in touch.




Fabry disease (GLA)


Introduction: Fabry disease (FD) is a progressive, hereditary and multisystemic pathology of lysosomal storage, characterized by neurological, cutaneous, renal, cardiovascular, cochleovestibular and cerebrovascular specific manifestations. About the exam: The study consists of the complete sequencing of the GLA gene (Xq21.3-q22) that encodes the lysosomal enzyme alpha-galactosidase. The activity deficit leads to the accumulation of globotriaosylceramide (Gb3) in the lysosomes, which is believed to trigger a cascade of cellular events. Genes or alleles analized: GLA 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: -- In case you have any questions, get in touch.




Marfan Syndrome (FBN1)


Introduction: The Marfan syndrome can appear at any age and its symptoms are very variable from one person to another, even within the same family. Cardiovascular involvement is characterized by: 1) progressive dilation of the aorta, accompanied by a high risk of aortic dissection, which affects prognosis; aortic dilation can lead to aortic valve insufficiency; e 2) mitral insufficiency, which can be complicated by arrhythmias, endocarditis or heart failure. About the exam: Complete sequencing of the FBN 1 gene is associated with Marfan syndrome Genes or alleles analized: FBN1 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: -- In case you have any questions, get in touch.




Multiple endocrine neoplasia type I (MEN1)


Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome. It is characterized by the presence of tumors of the parathyroid, endocrine pancreas and anterior pituitary gland. The penetrance is extremely high and the frequency is equal for both sexes. The prevalence is approximately 1 in 30,000 people. About the exam: The MEN1 syndrome is caused by the presence of mutations that inactivate the MEN1 tumor suppressor gene. The MEN1 gene is located on chromosome 11q13 and codes for menin, a 610 amino acid nuclear protein. This protein has no sequence homology with other known human proteins. This gene is probably involved in the regulation of various cellular functions such as replication and DNA repair. Genes or alleles analized: MEN1 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 business days In case you have any questions, get in touch.




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, DMD & Fragile X Technique used: NGS / MLPA / Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // Germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 25 business days In case you have any questions, get in touch.




Alpha I Antitrypsin


Introduction: The deficiency of alpha-1 antitrypsin (DAAT) is a genetic disease manifested by: pulmonary emphysema, cirrhosis and, more rarely, panniculitis. DAAT is characterized by low serum levels of alpha-1 antitrypsin (AAT), the main protease inhibitor (PI) in human serum. About the exam: The study of Alpha 1 antitrypsin is carried out by genotyping the alleles PI * Z and PI * S, since the majority is found by mutations in these two alleles. The severe form of the AATD are homozygous for the Z allele (PI * ZZ). Clinical manifestations can vary greatly among patients: some may be asymptomatic and others may have fatal liver or lung disease. Genes or alleles analized: Mutations in the SERPINA gene
Technique used: -- Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 10 business days In case you have any questions, get in touch.




DNA Runner


Introduction: The genetic study for Athletes offers through biotechnological tools an analysis that integrates the characteristics of interest for the practice of sport more efficiently. About the exam: -- Genes or alleles analized: ACTN3, ACE, PPARGCIA Technique used: Real Time/Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: -- In case you have any questions, get in touch.




Mucopolysaccharidosis I


Introduction: Mucopolysaccharidosis type 1 (MPS 1) is a lysosomal storage disease of the mucopolysaccharidosis group. There are 3 variants, which differ greatly in their severity, with Hurler's syndrome being the most severe, Scheie's syndrome the mildest, and Hurler-Scheie's syndrome the intermediate About the exam: IDUA is the only gene known to date associated with MPS I. The frequency of detection of mutations by sequencing is still unknown, but it is estimated that it should be close to 100%.
Our laboratory offers the study of the complete sequence of the IDUA gene. Genes or alleles analized: IDUA Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 50 business days In case you have any questions, get in touch.




Family mutations


Introduction: Specific mutation is a study performed to determine the presence or absence of a certain known family mutation. About the exam: This analysis allows identifying the non-carrier family members and carriers of the mutation, when this is already known. Depending on the disease, the carrier patients should receive a different follow-up by the medical party. When a patient is a carrier, the probability of transmitting the mutation to his / her disengagement is 50%. Genes or alleles analized: On request. Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Hereditary multiple exostosis - rearrangements


Introduction: Hereditary multiple exostosis is a skeletal disorder with autosomal dominant inheritance, due to the defect of glycosyltransferases (exostosines) that catalyze the polymerization of heparan sulfate, which causes an alteration in the formation of proteoglycans (heparan sulfate proteoglycans). About the exam: Study to determine the presence of large rearrangements in the genes EXT1 and EXT2 causing hereditary multiple exostosis. Hereditary multiple exostosis is a dominant disease, which requires the presence of 1 pathogenic variant to confirm the molecular diagnosis of this disease. The presence of rearrangements is the cause in a smaller percentage of cases of exosotosis, for which reason this study is recommended to be performed in the earliest fase of the suspicion of this disease. Genes or alleles analized: EXT1 & EXT2 Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // Germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Costello Syndrome


Introduction: Costello syndrome is characterized by postnatal growth retardation, coarse facies, intellectual deficit, skin abnormalities and cardiac anomalies. The prevalence is unknown, but around 150 cases have been reported in the literature. Dermatological signs include redundant skin on the neck, palms, fingers and on the soles of the feet (with hyperkeratosis of the palms and soles of the feet, and thickening of flaccid skin on the arms and legs), acanthosis nigricans, dark skin, and papillomas. The growth deficit during the first months of life leads to a short stature despite the normal increase in weight in later stages. About the exam: Study to determine the presence of variants in codons 12 and 13 of the HRAS gene that constitute 85% of variants associated with Costello syndrome. Sequencing of exon 2 of the HRAS gene where said codons are found is enhanced. This is an autosomal dominant disease, which requires the presence of 1 pathogenic variant to confirm the molecular diagnosis of this disease. Most patients have this disease due to a pathogenic mutation. Genes or alleles analized: Codons 12 and 13 HRAS Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Spinal muscular atrophy - rearrangements


Introduction: Spinal muscular atrophy (SMA) is a neuromuscular disease, of a genetic nature, which is manifested by a progressive loss of muscle strength. This occurs due to the involvement of the motor neurons of the spinal cord, which means that the nerve impulse can not be transmitted correctly to the muscles and that they atrophy. About the exam: Study to determine the presence of large rearrangements in the SMN1 gene causing spinal muscular atrophy (SMA). Spinal muscular atrophy is a recessive disease, which requires the presence of 2 pathogenic variants to confirm the molecular diagnosis of this disease. The presence of rearrangements is the cause in 95% of cases of SMA, which is why it is the first study to be performed in the face of the suspicion of this disease. Genes or alleles analized: SMN1 & SMN2 Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Tuberous sclerosis - rearrangements


Introduction: Tuberous sclerosis is characterized by alterations in the skin (hypomelanotic macula, facial angifibroma, fibrous facial plates), brain (subependymal nodules, apoplexy, developmental and mental retardation), kidney (angiomyolipomas, cysts) and heart (rhabdomyomas and arrhythmias) . About the exam: Study to determine the presence of large deletions in the TSC1 and TSC2 gene, causing Tuberose Sclerosis disease. This is an autosomal dominant disease, which requires the presence of 1 pathogenic variant to confirm the molecular diagnosis of this disease. Two thirds of patients have this disease due to a de novo pathogenic mutation. Genes or alleles analized: TSC1 & TSC2 Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Tuberous sclerosis - sequencing


Introduction: Tuberous sclerosis is characterized by alterations in the skin (hypomelanotic macula, facial angifibroma, fibrous facial plates), brain (subependymal nodules, apoplexy, developmental and mental retardation), kidney (angiomyolipomas, cysts) and heart (rhabdomyomas and arrhythmias). About the exam: Study to determine the presence of variants in the TSC1 and TSC2 genes, which causes Tuberose Sclerosis disease. All the exonic regions of the gene and the border intron regions are studied. The disease is dominant, so the presence of 1 pathogenic variant is necessary to confirm the molecular diagnosis of this disease. Two thirds of patients have this disease due to a de novo pathogenic mutation. Genes or alleles analized: TSC1 & TSC2 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 30 business days In case you have any questions, get in touch.




Central Core Disease (Ryanodine) - rearrangements


Introduction: The disease of the central bodies (Central Core Disease, CCD) is an inherited neuromuscular disorder characterized by the presence of central bodies in muscle biopsies and the clinical signs of congenital myopathy. Its prevalence is unknown but probably higher than that of other congenital myopathies. About the exam: Study to determine the presence of large deletions in the RYR1 gene, they are the cause of Central Cores disease. This is an autosomal dominant disease, which requires the presence of 1 pathogenic variant to confirm the molecular diagnosis of this disease. Genes or alleles analized: RYR1 Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // Germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Central Core Disease (Ryanodine) - sequencing


Introduction: The disease of the central bodies (Central Core Disease, CCD) is an inherited neuromuscular disorder characterized by the presence of central bodies in muscle biopsies and the clinical signs of congenital myopathy. Its prevalence is unknown but probably higher than that of other congenital myopathies. About the exam: Study to determine the presence of variants in the RYR1 gene, which causes the disease of the Central Cores. All the exonic regions of the gene and the border intron regions are studied. The disease is dominant, so the presence of 1 pathogenic variant is necessary to confirm the molecular diagnosis of this disease. Genes or alleles analized: RYR1 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // Germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 30 business days In case you have any questions, get in touch.




Stargardt disease associated with ABCA4


Introduction: It is a heterogeneous group of inherited disorders of the retina caused by mutations in the same gene, ABCA4. It is the most frequent macular dystrophy and the second most frequent hereditary disease of the retina after retinitis pigmentosa. About the exam: Study to determine the presence of variants in the ABCA4 gene, which causes Stargardt disease. All the exonic regions of the gene and the border intron regions are studied. Stargardt disease associated with ABCA4 is a recessive disease, which requires the presence of 2 pathogenic variants in TRANS to confirm the molecular diagnosis of this disease. Genes or alleles analized: ABCA4 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 business days In case you have any questions, get in touch.




Holt-Oram Syndrome


Introduction: The clinical picture of the HOS covers a broad spectrum of defects of the upper extremities, which always include defects of the radial axis and heart defects. Abnormalities of the radial axis of the upper extremities include malformations of the carpal bones as well as triphalangic or absent thumbs, phocomelia, hypoplasia or aplasia affecting the radius which often results in unequal length of the arms, transverse defects in the upper extremities that include pronation and abnormal supination of the forearm About the exam: Study to determine the presence of variants in the TBX5 gene, which causes Holt-Oram syndrome. All the exonic regions of the gene and the border intron regions are studied. Holt-Oram is a dominant disease, which requires the presence of 1 pathogenic variant to confirm the molecular diagnosis of this disease. Genes or alleles analized: TBX5 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 30 business days In case you have any questions, get in touch.




Pompe disease


Introduction: Glycogenosis type 2 (GSD II) is a lysosomal storage disease that particularly affects the skeletal and respiratory muscles with a degree of variable severity. The infantile form of Pompe disease begins before 3 months of age with: severe hypotonia, swallowing and breastfeeding difficulties, hypertrophic cardiomyopathy, and progressive hepatomegaly. The adult form results in a progressive myopathy of waists that begins in the lower limbs, and affects the respiratory system, which may be the first sign of the disease. About the exam: Study to determine the presence of variants in the GAA gene, which causes Pompe disease. All the exonic regions of the gene and the border intron regions are studied. Pompe disease is an autosomal recessive disease, which requires the presence of 2 pathogenic mutations in TRANS to confirm the molecular diagnosis of this disease. Genes or alleles analized: GAA Technique used: NGS & MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // Germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 business days In case you have any questions, get in touch.




Muscular dystrophy associated with LAMA2


Introduction: Congenital muscular dystrophy type 1A (DMC1A) is part of a group of neuromuscular diseases, present at birth or during the first months of life and manifested by: hypotonia, muscle weakness and muscle atrophy. About the exam: Study to determine the presence of variants in the LAMA2 gene, which causes Muscular Dystrophy associated with the LAMA2 gene or deficient merosine congenital muscular dystrophy. All the exonic regions of the gene and the border intron regions are studied. Muscular dystrophy associated with LAMA2 is an autosomal recessive disease, which requires the presence of 2 pathogenic mutations in TRANS to confirm the molecular diagnosis of this disease. Genes or alleles analized: LAMA2 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: 30 business days In case you have any questions, get in touch.




Muscular dystrophy additional panel (B)


Introduction: Waist muscular dystrophy (LGMD) is a group of disorders of genetically determined progressive muscle weakness that mainly affect the muscles of the pelvic girdle and the shoulder girdle.
About the exam: Study to determine the presence of variants in the genes POMGNT1, LMN, DES, MYOT, DNAJB6, PLEC, FKTN, TRIM32, POMT1 and POMT2 that cause Muscular Dystrophy. 95% of the exonic regions of these genes and border intron regions are studied. The inheritance can be recessive or dominant depending on the gene and the mutations in question. Genes or alleles analized: POMGNT1, LMN, DES, MYOT, DNAJB6, PLEC, FKTN, TRIM32, POMT1 & POMT2 Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 business days In case you have any questions, get in touch.




Muscular dystrophy classic panel (A)


Introduction: Waist muscular dystrophy (LGMD) is a group of disorders of genetically determined progressive muscle weakness that mainly affect the muscles of the pelvic girdle and the shoulder girdle.
About the exam: Study to determine the presence of variants in the genes LGMD1C, LGMD2D, SGCB, SGCG, SGCD, CAPN3, DYSF, TCAP, FKRP, ANO5, HNRPDL, GAA. causes of waist muscular dystrophy and Pompe disease. 95% of the exonic regions of these genes and border intron regions are studied. Pompe disease is of recessive inheritance whereas waist muscular dystrophy may have a recessive or dominant inheritance depending on the gene and the mutations in question. Genes or alleles analized: LGMD1C, LGMD2D, SGCB, SGCG, SGCD, CAPN3, DYSF, TCAP, FKRP, ANO5, HNRPDL & GAA. Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 35 business days In case you have any questions, get in touch.




Duchenne/Becker muscular dystrophy - rearrangements


Introduction: Duchenne Muscular Dystrophy (DMD) is the most common muscular dystrophy diagnosed during childhood. It significantly limits the years of life of those affected. It affects 1 in every 3,500 children in the world (around 20,000 new cases every year). It is a progressive muscle disorder that causes the loss of its function and therefore the affected end up losing their independence completely. The disease is caused by a mutation in the gene that codes for dystrophin.
About the exam: Study to determine the presence of variants in the DMD gene (dystrophin), causing Muscular Dystrophy of Duschenne or Becker. All the exonic regions of the gene and the border intron regions are studied. Both Duchenne Muscular Dystrophy and Becker Muscular Dystrophy are dominant diseases, so the presence of 1 pathogenic variant in the DMD gene is necessary to confirm the molecular diagnosis of these diseases. The presence of rearrangements is the cause of 70 to 80% of the cases of DMD or DMB, which is why it is the first study to perform against the suspicion of these diseases. In case of no rearrangements, the complete sequence of the gene is analyzed in search of specific mutations. Genes or alleles analized: DMD Technique used: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // Germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Duchenne/Becker muscular dystrophy - sequencing


Introduction: Duchenne Muscular Dystrophy (DMD) is the most common muscular dystrophy diagnosed during childhood. It significantly limits the years of life of those affected. It affects 1 in every 3,500 children in the world (around 20,000 new cases every year). It is a progressive muscle disorder that causes the loss of its function and therefore the affected end up losing their independence completely. The disease is caused by a mutation in the gene that codes for dystrophin.
About the exam: Study to determine the presence of variants in the DMD gene (dystrophin), causing Muscular Dystrophy of Duschenne or Becker. All the exonic regions of the gene and the border intron regions are studied. Both Duchenne Muscular Dystrophy and Becker Muscular Dystrophy are dominant diseases, so the presence of 1 pathogenic variant in the DMD gene is necessary to confirm the molecular diagnosis of these diseases. The presence of rearrangements is the cause of 70 to 80% of the cases of DMD or DMB, which is why it is the first study to perform against the suspicion of these diseases. In case of no rearrangements, the complete sequence of the gene is analyzed in search of specific mutations. Genes or alleles analized: DMD Technique used: NGS Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth 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 - DF508 mutation


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 DF508 (more frequent mutation) in the CFTR gene, causing Cystic Fibrosis. 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: DF508 CFTR Technique used: PCR Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes, // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: -- In case you have any questions, get in touch.




Cystic Fibrosis - 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: The study of large rearrangements by MLPA of the CFTR gene is carried out. 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: MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes, // Germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 20 business days In case you have any questions, get in touch.




Cystic Fibrosis - sequencing


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. 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 Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth 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.




Achondroplasia


Introduction: Achondroplasia is a genetic disorder that affects bone growth and causes the most common type of dwarfism, accounting for 70% of cases.
About the exam: Genetic study in order to detect the G1138A mutation, associated with achondroplasia. It has an autosomal dominant pattern of inheritance. Genes or alleles analized: FRGF3 Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 10 business days In case you have any questions, get in touch.




Preimplantation Genetic 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: Trophectoderm biopsy, 5-10 cells // WGA, 20 uL Results delivered in: 15 business days In case you have any questions, get in touch.





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