{"title":"LabGenetics","description":"","products":[{"product_id":"anemia-hemolitica-hereditaria-panel-por-exoma-clinico-sec-cnvs-54-genes","title":"Hereditary hemolytic anemia: clinical exome panel (Sec. \u0026amp; CNVs) - 54 genes","description":"\u003cp\u003e ABCB6, ABCG5, ABCG8, ADA, AK1, ALAS2, ALDOA, ANK1, BPGM, C15orf41, CD59, CDAN1, COL4A1, CYB5R3, EPB41, EPB42, FANCA, FANCC, FANCG, G6PD, GATA1, GCLC, GPI, GPX1, GSR, GSS, GYPC, HBB, HBD, HK1, HMOX1, KIF23, KLF1, LPIN2, NT5C3A, PFKL, PFKM, PGK1, PIEZO1, PKLR, RHAG, SEC23B, SLC2A1, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, STOM, TPI1, UGT1A1, UGT1A6, UGT1A7, XK\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":51600373907722,"sku":"1313","price":650.0,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/files\/propuestas_cambio_diseno_genotica_15.png?v=1758033817"},{"product_id":"enfermedades-mitocondriales","title":"Mitochondrial diseases","description":"\u003cp\u003eMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":51600374104330,"sku":"1308","price":765.0,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/files\/propuestas_cambio_diseno_genotica_15.png?v=1758033817"},{"product_id":"exoma-carcinoma-de-ovario-de-celulas-claras","title":"Exome - Clear Cell Ovarian Carcinoma","description":"\u003cp\u003e Exome kit including 33 genes: SMARCA4, IRS2, PTEN, MET, PRKCA, SYK, INSL3, DOK1, SYK, ERBB3, PIK3CA, SH3BP2, ARID1A, DOK1, TERT, PIK3R1, PDGFRA, PDGFRB, INSR, PPP2R1A, PTPN6, LYN, STAT1, KRAS, STAT5B, TP53, ARID1B, KIT, AKT2, IRS1, TYK2, ERBB2, CBL, for genetic study related to the pathology of Clear Cell Ovarian Carcinoma\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":51600385081610,"sku":"1238","price":724.0,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/files\/propuestas_cambio_diseno_genotica_15.png?v=1758033817"},{"product_id":"estudio-de-la-enfermedad-de-von-willebrand","title":"Study of von Willebrand disease","description":"\u003cp\u003e Analysis of the VWF gene for the study of von Willebrand disease\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":51600411853066,"sku":"1084","price":600.0,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/files\/propuestas_cambio_diseno_genotica_19.png?v=1767115739"},{"product_id":"test-neurofibromatosis-8-genes-cabin1-coq6-nf1-nf2-lztr1-prkar1a-smarcb1-spred1","title":"Neurofibromatosis Test (8 genes: CABIN1, COQ6, NF1, NF2, LZTR1, PRKAR1A, SMARCB1, SPRED1)","description":"\u003cp\u003e Genetic study - NGS sequencing: genes- CABIN1, COQ6, NF1, NF2, LZTR1, PRKAR1A, SMARCB1, SPRED1\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":51600434790666,"sku":"964","price":900.0,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/files\/propuestas_cambio_diseno_genotica_19.png?v=1767115739"},{"product_id":"sindrome-de-sturge-weber-gen-gnaq","title":"Sturge-Weber syndrome (GNAQ gene)","description":"\u003cp\u003e Analysis of point mutations in the GNAQ gene\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":51600452583690,"sku":"878","price":600.0,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/files\/propuestas_cambio_diseno_genotica_19.png?v=1767115739"},{"product_id":"cavernomatosis-cerebral-familiar-panel-por-exoma-clinico-seq-mlpa-3-genes","title":"FAMILIAR CEREBRAL CAVERNOMATOSIS: CLINICAL EXOME PANEL (Seq. \u0026amp; MLPA) – 3 genes","description":"\u003cp\u003eThe Familial Cerebral Cavernomatosis Panel analyzes three genes associated with inherited cerebral cavernous malformations, characterized by multiple vascular lesions in the central nervous system that can cause seizures, cerebral hemorrhages, headaches, focal neurological deficits, or progressive symptoms. The combination of next-generation sequencing (NGS) and multilayered light-dependent pulsed imaging (MLPA) allows for the detection of point variants, small insertions\/deletions, and rearrangements in the most relevant genes (KRIT1, CCM2, PDCD10), which are responsible for the majority of familial cases. This study facilitates accurate molecular diagnosis, genetic counseling, and early detection in asymptomatic relatives. 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Genes included: ALDH18A1, ATP6V0A2, ATP7A, COG7, EFEMP1, EFEMP2, ELN, FBLN5, GORAB, LTBP1, LTBP4, PTDSS1, PYCR1, RIN2, SLC2A10, TALDO1.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417391370,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"deficiencia-de-coenzima-q10-panel-por-exoma-clinico-sec-cnvs-16-genes","title":"COENZYME Q10 DEFICIENCY: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 16 genes","description":"\u003cp\u003eThe Coenzyme Q10 (CoQ10) Deficiency Panel analyzes 16 genes involved in mitochondrial metabolic disorders related to the biosynthesis or regeneration of Coenzyme Q10, an essential component of the mitochondrial respiratory chain and cellular energy metabolism. CoQ10 deficiency can manifest as encephalomyopathy, cerebellar ataxia, myopathy, nephropathy, epilepsy, or multiple organ dysfunction, depending on the affected gene and the degree of mitochondrial involvement. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies pathogenic variants in genes involved in the synthesis (COQ2, COQ4, COQ6, PDSS1, PDSS2) and functional regulation of CoQ10, as well as in secondary mitochondrial defects (ETFDH, APTX, MVK, ANO10). Accurate molecular diagnosis guides clinical management and the possibility of CoQ10 replacement therapy. 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The panel allows for the detection of point mutations, insertions, deletions, and copy number variations (CNVs) using next-generation sequencing (NGS), offering a comprehensive approach to the molecular diagnosis of patients with isolated or syndromic intellectual disability, epilepsy, autism, hypotonia, language disorders, and behavioral disorders. Among the most relevant genes included are FMR1 (Fragile X syndrome), MECP2 (Rett syndrome and variants), ARX, ATRX, CDKL5, CASK, PQBP1, OPHN1, SLC6A8, NLGN3, NLGN4X, IQSEC2, KDM5C, HUWE1, and RPS6KA3, among others involved in neuronal development and function. You can consult the complete list of genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417489674,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"enfermedad-de-gaucher-panel-por-exoma-clinico-sec-cnvs-2-genes","title":"GAUCHER DISEASE: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 2 genes","description":"\u003cp\u003e The Gaucher Disease panel analyzes the GBA and PSAP genes, responsible for this inherited lysosomal disorder characterized by the accumulation of glucocerebrosides in macrophages, causing hepatomegaly, splenomegaly, cytopenias, bone abnormalities, and, in some cases, neurological involvement. Using next-generation sequencing (NGS) and CNV detection, the panel allows for molecular diagnosis confirmation and differentiation of clinical subtypes (types 1, 2, and 3), facilitating therapeutic guidance, monitoring, and family genetic counseling.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417522442,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"epilepsia-generalizada-con-ataques-febriles-plus-sindrome-de-dravet-panel-por-exoma-clinico-sec-cnvs-19-genes","title":"GENERALIZED EPILEPSY WITH FEBRILE ATTACKS PLUS \/ DRAVET SYNDROME: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 19 genes","description":"\u003cp\u003eThe Generalized Epilepsy with Febrile Seizures Plus and Dravet Syndrome panel analyzes 19 genes associated with childhood-onset genetic epilepsies characterized by prolonged febrile seizures, multiple seizure types, and, in some cases, progressive neurological deterioration. These conditions fall within the spectrum of ion channel-dependent epilepsies, involving alterations in neuronal excitability and GABAergic neurotransmission. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of pathogenic variants in genes involved in sodium and potassium channels and GABA receptors, which are fundamental in regulating brain electrical activity. Among the most relevant genes included in this panel are SCN1A, SCN2A, SCN8A, GABRA1, GABRB3, GABRG2, PCDH19, and STXBP1, among others.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417587978,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"ictiosis-panel-por-exoma-clinico-sec-cnvs-60-genes","title":"ICHTHYOSIS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 60 genes","description":"\u003cp\u003eThe Ichthyosis Panel analyzes 60 genes involved in inherited disorders of skin keratinization and desquamation, characterized by extreme dryness, epidermal thickening, and widespread scaling. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this study identifies variants in genes related to epidermal barrier formation, lipid metabolism, keratinocyte differentiation, and intracellular protein transport. Genes included are: ABCA12, ALOX12B, ALOXE3, TGM1, FLG, PNPLA1, CERS3, NIPAL4, KRT1, KRT10, CLDN1, LOR, MBTPS2, SLURP1, SPINK5, and VPS33B, among others. The complete list of genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417620746,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"abetalipoproteinemia-panel-por-exoma-clinico-sec-cnvs-2-genes","title":"ABETALIPOPROTEINEMIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 2 genes","description":"\u003cp\u003eThe Abetalipoproteinemia panel analyzes two key genes associated with this rare inherited metabolic disorder of lipid metabolism, characterized by the absence or marked reduction of lipoproteins containing apolipoprotein B. This alteration leads to intestinal malabsorption of fats and fat-soluble vitamins, acanthocytosis, steatorrhea, failure to thrive, and progressive neurological and ophthalmological complications due to vitamin A and E deficiencies. Mutations in MTTP (microsomal triglyceride transfer protein gene) and APOB (apolipoprotein B gene) prevent the correct assembly and secretion of chylomicrons and very low-density lipoproteins (VLDL). Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the precise identification of the causative variants responsible for the defect in lipid transport and lipoprotein metabolism. Some of the genes included in this panel are MTTP and APOB. You can consult the complete list of genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417653514,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"acidemia-glutarica-panel-por-exoma-clinico-sec-cnvs-8-genes","title":"GLUTARIC ACIDEMIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 8 genes","description":"\u003cp\u003e The Glutaric Acidemia Panel studies eight genes associated with inborn errors of organic acid metabolism, characterized by the accumulation of glutaric acid and its derivatives, which cause neurological damage, hypotonia, dystonia, and motor delay. It includes glutaric acidemia type I (GCDH) and type II (ETFA, ETFB, ETFDH), as well as less frequent variants in D2HGDH, L2HGDH, LIAS, and SUGCT. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies alterations in mitochondrial enzymes involved in the degradation of lysine, hydroxylysine, and tryptophan. Some of the genes included in this panel are GCDH, ETFA, ETFB, ETFDH, D2HGDH, and L2HGDH, among others. The complete list of genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417686282,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"acidemia-metilmalonica-y-homocistinuria-panel-por-exoma-clinico-sec-cnvs-30-genes","title":"METHYLMALONIC ACIDEMIA AND HOMOCYSTRINURIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 30 genes","description":"\u003cp\u003eThe Methylmalonic Acidemia and Homocystinuria panel analyzes 30 genes associated with congenital defects in vitamin B12, methionine, and propionate metabolism, which are responsible for the accumulation of methylmalonic acid and homocysteine. These disorders are characterized by developmental delay, failure to thrive, hypotonia, recurrent metabolic acidosis, and neurological and vascular complications. The study includes genes involved in the synthesis, transport, and utilization of cobalamin, as well as in remethylation and transsulfuration pathways, encompassing both isolated forms of methylmalonic acidemia (MUT, MMAA, MMAB, MMACHC) and forms combined with homocystinuria (MMADHC, MTR, MTRR, MTHFR, CBS). Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the precise identification of causative variants. Some of the genes included in this panel are: MUT, MMACHC, MMADHC, MTR, MTRR, MTHFR, and CBS, among others. You can consult the complete list of genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417751818,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"acidemia-organica-y-deficiencia-de-cobalamina-panel-por-exoma-clinico-sec-cnvs-97-genes","title":"ORGANIC ACIDEMIA AND COBALAMIN DEFICIENCY: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 97 genes","description":"\u003cp\u003eThe Organic Acidemia and Cobalamin Deficiency Panel analyzes 97 genes associated with congenital disorders of intermediary metabolism that affect the oxidation of amino acids, fatty acids, and organic acids, as well as cobalamin (vitamin B12) metabolism. These diseases, which include methylmalonic, propionic, isovaleric, and glutaric acidemias, and multiple dehydrogenase deficiencies, manifest with metabolic acidosis, recurrent vomiting, hypoglycemia, hypotonia, encephalopathy, and developmental delay. The panel studies genes involved in mitochondrial and cytosolic pathways essential for the conversion of energy intermediates, as well as in the transport and utilization of vitamin B12. Some of the genes included are: MUT, MMACHC, MMADHC, PCCB, PCCA, ETFDH, ETFA, ETFB, IVD, GCDH, ACAD8, ACSF3, LIAS, and SUCLG1, among others. You can consult the complete list of genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417784586,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"acidemia-propionica-panel-por-exoma-clinico-sec-cnvs-2-genes","title":"PROPIONIC ACIDEMIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 2 genes","description":"\u003cp\u003e The Propionic Acidemia Panel studies the PCCA and PCCB genes, which encode the α and β subunits of propionyl-CoA carboxylase, a key mitochondrial enzyme in the metabolism of amino acids (valine, isoleucine, methionine, and threonine), odd-chain fatty acids, and cholesterol. Deficiency of these genes causes the accumulation of propionic acid and toxic metabolites, leading to severe metabolic acidosis, hypotonia, vomiting, lethargy, encephalopathy, and developmental delay. This panel allows for the identification of pathogenic variants through next-generation sequencing (NGS) with analysis of SNVs, indels, and CNVs, optimizing the diagnosis of this autosomal recessive organic acidemia. Genes included: PCCA and PCCB.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417850122,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"acidosis-lactica-y-trastornos-del-metabolismo-de-piruvato-panel-por-exoma-clinico-sec-cnvs-130-genes","title":"LACTIC ACIDOSIS AND PYRUVATE METABOLISM DISORDERS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 130 genes","description":"\u003cp\u003eThe Lactic Acidosis and Pyruvate Metabolism Disorders panel analyzes 130 genes associated with mitochondrial and cytosolic defects that affect energy metabolism, particularly the conversion of pyruvate to acetyl-CoA and oxidative phosphorylation. These disorders include deficiencies of the pyruvate dehydrogenase complex (PDHA1, PDHB, PDHX, PDP1, PDK3), mitochondrial respiratory chain defects (NDUFS1, NDUFS4, COX10, SCO2, SURF1), β-oxidation disorders, and defects in lactic acid and propionate metabolism (PCCA, PCCB, PC). Clinically, they are characterized by recurrent lactic acidosis, encephalopathy, hypotonia, psychomotor retardation, and multi-organ failure in severe cases. This panel uses next-generation sequencing (NGS) with SNV, indel, and CNV analysis to detect pathogenic variants in genes involved in cellular energy production and utilization. Some of the included genes are: PDHA1, PDHX, DLAT, DLD, PC, NDUFS1, COX10, SCO2, SURF1, SUCLA2, and SUCLG1, among others. For a complete list of genes, please contact Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417915658,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"acidosis-tubular-renal-panel-por-exoma-clinico-sec-cnvs-7-genes","title":"RENAL TUBULAR ACIDOSIS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) - 7 genes","description":"\u003cp\u003eThe Renal Tubular Acidosis (RTA) panel is designed to identify pathogenic variants associated with different types of distal and proximal renal tubular acidosis, inherited diseases that affect the kidney's ability to maintain acid-base balance. These disorders manifest clinically as hyperchloremic metabolic acidosis, hypokalemia, growth retardation, nephrocalcinosis, kidney stones, and, in severe cases, rickets or osteomalacia. The main diseases assessed include autosomal recessive or dominant distal renal tubular acidosis (ATP6V1B1, ATP6V0A4, SLC4A1), proximal tubular acidosis (SLC4A4), renal tubular acidosis associated with phosphate reabsorption defects (SLC34A1), and combined or syndromic forms that may present with sensorineural hearing loss or pancreatic dysfunction (CA2, HNF4A). The panel analyzes genes involved in the regulation of ion transport, acid-base metabolism, and renal bicarbonate and ammonium homeostasis, offering a precise diagnostic tool that allows for the identification of the type of renal tubular acidosis (RTA) and guides treatment and family counseling. Key genes analyzed include: ATP6V0A4, ATP6V1B1, CA2, HNF4A, SLC34A1, SLC4A1, SLC4A4, and others. The complete panel of studied genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131417948426,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"acondrogenesis-panel-por-exoma-clinico-sec-cnvs-3-genes","title":"ACHONDROGENESIS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 3 genes","description":"\u003cp\u003e The Achondrogenesis panel evaluates severe forms of lethal\/neonatal skeletal dysplasia characterized by disproportionate dwarfism, thoracic hypoplasia, abnormal mineralization, and delayed ossification, with a high perinatal impact. Next-generation sequencing (NGS) with CNVs allows for diagnostic confirmation, differentiation of subtypes (type 1B, type 2, and overlapping phenotypes), and guidance of reproductive counseling. Genes analyzed: COL2A1, SLC26A2, TRIP11.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418079498,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"acrodisostosis-panel-por-exoma-clinico-sec-cnvs-2-genes","title":"ACRODYSOSTOSIS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 2 genes","description":"\u003cp\u003e This panel studies acrodysostosis and related phenotypes such as severe brachydactyly, facial dysplasia, growth retardation, hormonal resistance (PTH\/TSH), and varying disability. NGS\/CNV analysis supports endocrinological and orthopedic diagnosis and management. Genes analyzed: PDE4D, PRKAR1A.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418112266,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"acromatopsia-panel-por-exoma-clinico-sec-cnvs-13-genes","title":"ACHROMATOPSY: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 13 genes","description":"\u003cp\u003eThe Achromatopsia Panel allows for the genetic study of congenital and hereditary forms of retinal cone dysfunction, clinically characterized by nystagmus, photophobia, severe visual acuity loss, and partial or complete color blindness. Achromatopsia can be stationary or progressive, and its molecular diagnosis is key to differentiating it from other retinal dystrophies and guiding visual prognosis. The main entities covered include autosomal recessive congenital achromatopsia, blue cone monochromacy, and some retinopathies associated with mutations in visual transduction genes. This panel analyzes genes involved in photoreceptor function and the visual signaling cascade, such as CNGA3 and CNGB3 (responsible for most cases), GNAT2, PDE6C, PDE6H, and ATF6, among others. Genes analyzed: CNGA3, CNGB3, GNAT2, PDE6C, ATF6, and others. You can consult the complete list of genes analyzed by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418145034,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"adenocarcinoma-de-pulmon-secuenciacion-sanger-del-gen-braf","title":"LUNG ADENOCARCINOMA: SANGER SEQUENCING OF THE BRAF GENE","description":"\u003cp\u003e BRAF gene analysis using Sanger sequencing allows for the identification of somatic mutations associated with lung adenocarcinoma, particularly the V600E mutation, which abnormally activates the MAPK\/ERK pathway, promoting cell proliferation. This study has significant clinical relevance, as the detection of BRAF mutations guides targeted therapies with BRAF and MEK inhibitors, personalizing treatment and improving prognosis. Furthermore, this analysis is crucial in tumors that are negative for EGFR, ALK, or ROS1, within the comprehensive diagnostic approach for non-small cell lung cancer.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418210570,"sku":null,"price":900.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"adenoma-hepatico-secuenciacion-sanger-del-gen-hnf1a-tcf1","title":"HEPATIC ADENOMA: SANGER SEQUENCING OF THE HNF1A GENE (TCF1)","description":"\u003cp\u003eAnalysis of the HNF1A gene (also known as TCF1) using Sanger sequencing is indicated in patients with hepatic adenomas to identify somatic or germline mutations associated with this benign liver neoplasm. HNF1A variants are associated with a specific adenoma subtype characterized by intratumoral fat accumulation, a low risk of malignant transformation, and, in some cases, MODY3 diabetes when the mutation is germline. This study allows for precise molecular classification of the tumor, differentiation from other subtypes, and guidance for treatment and follow-up.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418243338,"sku":null,"price":600.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"adenoma-hipofisario-familiar-prolactinoma-panel-por-exoma-clinico-sec-cnvs-15-genes","title":"FAMILIAL PITUITARY ADENOMA \/ PROLACTINOMA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 15 genes","description":"\u003cp\u003eThe Familial Pituitary Adenoma\/Prolactinoma Panel is designed for the genetic study of patients with hereditary or multiple pituitary adenomas, including prolactinomas, somatotropinomas, corticotropinomas, and non-functioning adenomas. These alterations may be associated with tumor predisposition syndromes such as multiple endocrine neoplasia type 1 (MEN1), Carney complex, or syndromes caused by AIP mutations. Clinical exome sequencing and CNV detection allow for the identification of pathogenic variants that explain familial susceptibility, contributing to accurate molecular diagnosis, genetic counseling, and personalized clinical management. Genes analyzed: AIP, MEN1, CDKN1B, GNAS, PRKAR1A, SDHA, SDHB, SDHC, SDHD, and others. You can consult the complete list of analyzed genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418276106,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"afibrinogenemia-disfibrinogenemia-hipofibrinogenemia-panel-por-exoma-clinico-sec-cnvs-3-genes","title":"AFIBRINOGENEMIA \/ DYSFIBRINOGENEMIA \/ HYPOFIBRINOGENEMIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 3 genes","description":"\u003cp\u003eThe Afibrinogenemia, Dysfibrinogenemia, and Hypofibrinogenemia panel allows for the simultaneous analysis of the three genes involved in the main congenital fibrinogen disorders. Fibrinogen is an essential protein for clot formation and hemostasis. These disorders can manifest as spontaneous or prolonged bleeding, hematomas, delayed wound healing, and, in some cases, paradoxical thrombotic events. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs identifies pathogenic variants in the Aα, Bβ, and γ chains of fibrinogen, encoded by the FGA, FGB, and FGG genes, which are fundamental for its synthesis and assembly. This analysis facilitates etiological diagnosis, clinical subtype classification, and individualized therapeutic guidance.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418308874,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"agammaglobulinemia-panel-por-exoma-clinico-sec-cnvs-27-genes","title":"AGAMMAGLOBULINEMIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 27 genes","description":"\u003cp\u003eThe Agammaglobulinemia Panel studies 27 genes associated with developmental and signaling defects in B lymphocytes that result in profound hypogammaglobulinemia, recurrent sinopulmonary infections, chronic diarrhea, and poor vaccine response. Using next-generation sequencing (NGS) (SNVs, indels, and CNVs), it investigates alterations in pre-B cell receptor\/BCR pathways, heavy\/light chain assembly, glycosylation, and PI3K–NF-κB pathways that lead to bone marrow maturation block or peripheral B cell dysfunction. Some of the genes included in this panel are: BTK, BLNK, CD19, CD79A, CD79B, CD81, TCF3, PIK3CD, PIK3R1, SH2D1A, GATA2, DNMT3B, LIG1, MOGS, and ZBTB24, among others. The complete list of genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418341642,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"agenesia-dental-oligodontia-panel-por-exoma-clinico-sec-cnvs-43-genes","title":"DENTAL AGENESIA\/OLIGODONTIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 43 genes","description":"\u003cp\u003eThis panel is designed for isolated or syndromic hypodontia\/oligodontia, with congenital absence of teeth, enamel\/dentin abnormalities, craniofacial or ectodermal anomalies. It is useful for differentiating AXIN2-related (oncological risk), WNT and TGF-β forms, and ectodermal dysplasias. Genes analyzed include: WNT10A, PAX9, MSX1, AXIN2, EDA, EDAR, EDARADD, IRF6, LRP6, RUNX2, and others. For a complete list of analyzed genes, please contact Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418407178,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"agenesia-renal-panel-por-exoma-clinico-sec-cnvs-11-genes","title":"RENAL AGENESIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 11 genes","description":"\u003cp\u003eThe Renal Agenesis Panel is designed for the genetic study of congenital malformations characterized by the unilateral or bilateral absence of the kidney, with or without involvement of the urinary tract. These anomalies can occur in isolation or as part of complex genetic syndromes, and their early identification is essential for detecting associated alterations and planning clinical management. The analysis includes genes involved in renal embryogenesis, ureteral induction, and the interaction between the metanephric mesenchyme and the Wolffian duct. Identifying pathogenic variants in these genes allows for confirming the diagnosis, defining the risk of recurrence, and guiding genetic counseling. Key genes analyzed include: BMP4, DSTYK, FGF20, FRAS1, FREM1, FREM2, GFRA1, ITGA8, RET, UPK3A, WNT9B, and others. A complete list of analyzed genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418439946,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"agenesia-disgenesia-del-cuerpo-calloso-panel-por-exoma-clinico-sec-cnvs-128-genes","title":"AGENESIS\/DYSGENESIS OF THE CORPUS CALLOSUM: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 128 genes","description":"\u003cp\u003e The Corpus Callosum Agenesis\/Dysgenesis panel analyzes 128 genes associated with congenital malformations of brain development that affect the formation or structure of the corpus callosum, the main interhemispheric connection pathway of the brain. These alterations can occur in isolation or as part of complex genetic syndromes, frequently accompanied by intellectual disability, epilepsy, psychomotor delay, craniofacial or endocrine abnormalities.\u003c\/p\u003e\n\n\n\u003cp\u003e Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies variants in genes related to neurogenesis, neuronal migration, ciliary signaling, and axonal patterning, such as ARX, L1CAM, ZEB2, FGF8, GLI3, FOXG1, ATRX, and TUBA1A, among others. The complete list of genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418472714,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"albinismo-oculocutaneo-oca-panel-por-exoma-clinico-sec-cnvs-26-genes","title":"OCULOCUTANAL ALBINISM (OCA): CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 26 genes","description":"\u003cp\u003eThe Oculocutaneous Albinism (OCA) panel is designed to identify the genetic causes of pigmentation disorders affecting the skin, hair, and eyes, characterized by variable hypopigmentation, nystagmus, photophobia, decreased visual acuity, and optic nerve decussation abnormalities. Albinism can present as oculocutaneous (OCA) or as isolated ocular (OA1), and may or may not be associated with systemic syndromes such as Hermansky-Pudlak or Chediak-Higashi syndromes, which are characterized by hematological or immunological abnormalities. The pathologies covered by this panel include oculocutaneous albinism types 1-7 (OCA1-OCA7), X-linked ocular albinism (GPR143), Hermansky-Pudlak syndromes (HPS1, HPS3, HPS4, HPS5, HPS6), Chediak-Higashi syndrome (LYST), and Griscelli syndrome (RAB27A, MYO5A). The panel also includes genes related to melanosome biogenesis and intracellular trafficking of pigment proteins. Next-generation sequencing (NGS) and CNV analysis allow for the differentiation of syndromic and non-syndromic forms, providing crucial information for visual prognosis, dermatological follow-up, and family genetic counseling. Genes analyzed: TYR, OCA2, TYRP1, SLC45A2, GPR143, HPS1, LYST, RAB27A, MITF, MYO5A, and others. You can consult the complete list of analyzed genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418505482,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"albinismo-panel-por-exoma-clinico-sec-cnvs-27-genes","title":"ALBINISM: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 27 genes","description":"\u003cp\u003e The Albinism panel analyzes 27 genes associated with the oculocutaneous, ocular, and syndromic forms of this genetic disease characterized by hypopigmentation of the skin, hair, and eyes, along with visual disturbances and, in some cases, systemic manifestations.\u003cbr\u003e\n Through massive sequencing (NGS) with detection of SNVs, indels and CNVs, it is possible to identify variants in genes involved in the synthesis, transport and maturation of melanin, as well as in disorders of lysosomal trafficking.\u003cbr\u003e\n Featured genes: TYR, OCA2, TYRP1, SLC45A2, GPR143, LYST, HPS1, HPS4, AP3B1.\u003cbr\u003e\n You can consult the complete list of genes included in the panel by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418538250,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"alta-miopia-de-inicio-precoz-panel-por-exoma-clinico-sec-cnvs-124-genes","title":"HIGH EARLY ONSET MYOPIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 124 genes","description":"\u003cp\u003eThe Early-Onset High Myopia Panel analyzes the genetic causes of congenital or infantile forms of severe myopia, characterized by axial elongation of the eyeball and a risk of retinal complications such as retinal detachment or myopic maculopathy. This panel includes genes associated with both isolated myopia and syndromic forms related to collagen dysplasias, retinal dystrophies, or ocular developmental abnormalities, such as those present in Stickler syndrome (COL2A1, COL11A1, COL11A2), Marfan syndrome (FBN1, FBN2), or ocular Ehlers-Danlos syndrome, as well as myopia linked to retinal dystrophies (CRB1, RPGR, RHO). Next-generation sequencing (NGS) allows for the differentiation between syndromic and non-syndromic forms, guiding ophthalmological follow-up and family genetic counseling. Genes analyzed: COL2A1, COL11A1, CRB1, FBN1, FBN2, LRP5, RPGR, PAX6, RHO, SLC39A5, and others. You can consult the complete list of genes analyzed by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418603786,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"alzheimer-y-demencia-panel-por-exoma-clinico-sec-cnvs-68-genes","title":"ALZHEIMER'S AND DEMENTIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 68 genes","description":"\u003cp\u003eThe Alzheimer's and Dementia panel analyzes 68 genes implicated in a broad spectrum of inherited neurodegenerative disorders characterized by progressive cognitive decline, memory loss, behavioral and language disturbances, and motor or extrapyramidal dysfunction. This panel covers the major genetic forms of early- and late-onset Alzheimer's disease, frontotemporal dementias (FTD), CADASIL and other inherited vasculopathies, Parkinson's disease with dementia, leukoencephalopathies, multiple system atrophies, and mitochondrial encephalopathies with cognitive impairment. Next-generation sequencing (NGS) allows the detection of single-cell variants (SNVs), indels, and single-cell variants (CNVs) in key genes involved in the production, processing, and clearance of β-amyloid (APP, PSEN1, PSEN2, APOE), neuronal dynamics and metabolism (MAPT, GRN, TREM2, SQSTM1), and lysosomal and mitochondrial homeostasis (CHCHD10, VCP, ATP13A2, GBA, OPTN). Identifying pathogenic variants in these genes is essential for accurate diagnosis, family genetic counseling, and defining clinical prognosis. Some of the genes included are APP, PSEN1, PSEN2, APOE, GRN, MAPT, TREM2, PRNP, CHMP2B, VCP, and DNMT1, among others. A complete list of genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418702090,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"amaurosis-congenita-de-leber-panel-por-exoma-clinico-sec-cnvs-35-genes","title":"LEBER CONGENITAL AMAUROSIS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 35 genes","description":"\u003cp\u003e The Leber Congenital Amaurosis Panel studies the main genetic causes of severe congenital retinal dystrophies, which present from birth with blindness or severely reduced vision, nystagmus, and absence of electroretinographic response. It includes genes responsible for classic LCA (RPE65, CEP290, GUCY2D, CRB1, AIPL1) and for forms related to progressive dystrophies or ciliopathies, such as Bardet-Biedl syndrome (BBS4) or Alström syndrome (ALMS1). Identifying the causative gene allows for accurate diagnosis, progression assessment, and evaluation of eligibility for gene therapies under development. Genes analyzed: RPE65, CEP290, GUCY2D, CRB1, AIPL1, LCA5, NMNAT1, CRX, RPGRIP1, RDH12, and others. You can consult the complete list of analyzed genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418734858,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"amelogenesis-dentinogenesis-imperfecta-panel-por-exoma-clinico-sec-cnvs-38-genes","title":"AMELOGENESIS\/DENTINOGENESIS IMPERFECTA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 38 genes","description":"\u003cp\u003eIt evaluates inherited enamel and dentin disorders with hypoplasia\/hypomaturation, brittle teeth, discoloration, sensitivity, and early tooth loss, both isolated and syndromic (e.g., osteogenesis imperfecta). It allows for precise molecular identification and planning of restoration, prevention, and systemic follow-up. Genes analyzed: AMELX, ENAM, FAM83H, MMP20, KLK4, WDR72, DSPP, COL1A1, COL1A2, LAMB3, and others. You can consult the complete list of analyzed genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418767626,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"amiloidosis-hereditaria-panel-por-exoma-clinico-sec-cnvs-34-genes","title":"HEREDITARY AMYLOIDOSIS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 34 genes","description":"\u003cp\u003eThe Hereditary Amyloidosis Panel analyzes 34 genes associated with disorders characterized by the abnormal accumulation of misfolded proteins in various tissues and organs, leading to progressive multi-organ dysfunction. This panel covers different forms of familial amyloidosis, including transthyretin amyloidosis (ATTR), apolipoprotein amyloidosis (APOA1, APOA2, APOE), gelsolin amyloidosis (GSN), and hereditary autoinflammatory forms associated with secondary amyloid deposits (such as those related to MEFV or NLRP3). Genes involved in the regulation of protein folding, peptide processing, and the systemic inflammatory response are also included. Some of the genes included in this panel are TTR, APOA1, APOA2, GSN, PRNP, MEFV, NLRP3, and TNFRSF1A, among others. For a complete list of genes, please contact Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418800394,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"anemia-diseritropoyetica-congenita-panel-por-exoma-clinico-sec-cnvs-8-genes","title":"CONGENITAL DYSERYTHROPOIETIC ANEMIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 8 genes","description":"\u003cp\u003eThe Congenital Dyserythropoietic Anemia (CDA) panel analyzes eight genes involved in this heterogeneous group of inherited anemias characterized by ineffective erythropoiesis, medullary erythroid dysplasia, and anemia of varying severity. These conditions result from defects in the maturation and nuclear division of erythroid precursors, leading to abnormal erythrocytes and signs of compensatory hemolysis. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the panel allows for the study of genes related to cell cycle regulation, iron metabolism, and erythroid nuclear membrane stability. Some of the genes included in this panel are ALAS2, C15orf41, CDAN1, GATA1, KIF23, KLF1, LPIN2, and SEC23B, alterations in which explain the main subtypes of CDA (types I, II, and III). You can consult the complete list of genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418865930,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"anemia-hemolitica-hereditaria-panel-por-exoma-clinico-sec-cnvs-54-genes-1","title":"Hereditary Hemolytic Anemia: Clinical Exome Panel (Sec. \u0026amp; CNVs) – 54 genes","description":"\u003cp\u003eThe Hereditary Hemolytic Anemia panel studies 54 genes associated with congenital defects that cause premature destruction of red blood cells, with jaundice, splenomegaly, reticulocytosis, and chronic anemia of varying severity. These pathologies include enzyme abnormalities, red blood cell membrane defects, and hemoglobin disorders. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the analysis of genes related to red blood cell glycolysis, the pentose phosphate pathway, cytoskeleton structure, and ion transport. Some of the genes included in this panel are: SLC4A1, EPB41, PKLR, G6PD, ALAS2, ANK1, SPTA1, SPTB, UGT1A1, and RHAG, among others. This analysis covers a range of conditions, from spherocytic and elliptocytic anemias to enzyme disorders and non-spherocytic hemolytic anemias. You can consult the complete list of genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418898698,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"anemia-megaloblastica-panel-por-exoma-clinico-sec-cnvs-13-genes","title":"MEGALOBLASTIC ANEMIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 13 genes","description":"\u003cp\u003eThe Megaloblastic Anemia panel analyzes 13 genes involved in congenital defects of vitamin B12 (cobalamin) and folic acid metabolism, which are responsible for ineffective erythropoiesis with macrocytosis, neutropenia, and neurological or gastrointestinal abnormalities. These anemias are characterized by the presence of erythroblasts with immature nuclei and mature cytoplasm, reflecting a dissociation in DNA synthesis. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows the study of genes involved in intestinal vitamin B12 absorption, transport, and conversion to active cofactors. Some of the genes included in this panel are: AMN, CUBN, DHFR, GIF, LMBRD1, MMACHC, MMADHC, MTR, SLC19A1, and TCN2, among others. You can consult the complete list of genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418931466,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"anemia-sideroblastica-panel-por-exoma-clinico-sec-cnvs-9-genes","title":"SIDEROBLASTIC ANEMIA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 9 genes","description":"\u003cp\u003eThe Sideroblastic Anemia Panel studies nine genes associated with this group of anemias characterized by ineffective erythropoiesis and the presence of ring sideroblasts in the bone marrow, resulting from mitochondrial iron accumulation. Hereditary forms can present from birth or in childhood, with hypochromic anemia, iron overload, and progressive liver dysfunction. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows the study of genes involved in heme synthesis, mitochondrial iron transport, and mitochondrial translation. Some of the genes included in this panel are: ALAS2, ABCB7, GLRX5, HSPA9, PUS1, SLC19A2, SLC25A38, TRNT1, and YARS2. The complete list of genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131418964234,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"anemias-hereditarias-global-panel-por-exoma-clinico-sec-cnvs-268-genes","title":"INHERITED ANEMIAS GLOBAL: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 268 genes","description":"\u003cp\u003eThe Global Hereditary Anemias Panel includes 268 genes associated with congenital anemias of diverse etiologies, encompassing hemolytic, megaloblastic, dyserythropoietic, sideroblastic, and hypoproliferative anemias, as well as bone marrow failure syndromes such as Fanconi and Diamond-Blackfan. Using next-generation sequencing (NGS) with analysis of SNVs, indels, and CNVs, this study evaluates genes related to erythropoiesis, hemoglobin synthesis, erythrocyte membrane structure, iron metabolism, heme synthesis, and DNA repair. It allows for precise etiological diagnosis in patients with congenital or refractory anemia, guides treatment (targeted supplementation, transplantation, or gene therapy), and provides family genetic counseling. Examples of included genes: SLC4A1, EPB41, PKLR, G6PD, ALAS2, SEC23B, FANCA, HBB, HBA1, MMACHC, RPS19, among others. You can consult the complete list of genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131419029770,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"angioedema-hereditario-panel-por-exoma-clinico-sec-cnvs-4-genes","title":"HEREDITARY ANGIOEDEMA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 4 genes","description":"\u003cp\u003eThe Hereditary Angioedema Panel analyzes four genes involved in the regulation of the complement system and the bradykinin pathway, alterations in which lead to recurrent episodes of non-pruritic edema affecting the skin, mucous membranes, airways, and gastrointestinal tract. These episodes can be potentially serious, especially when they involve the larynx or abdomen, and are often triggered by stress, trauma, or hormonal changes. Next-generation sequencing (NGS) with simultaneous detection of SNVs, indels, and CNVs allows for the identification of both classic forms of hereditary angioedema due to quantitative or functional deficiency of the C1 inhibitor (SERPING1), and variants with normal C1-INH levels due to mutations in F12, PLG, or ANGPT1, which alter kallikrein activation and bradykinin generation. Some of the genes included in this panel are: SERPING1, F12, PLG, and ANGPT1.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131419062538,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"anoftalmia-microftalmia-coloboma-panel-por-exoma-clinico-sec-cnvs-126-genes","title":"ANOPHTHALMIA \/ MICROPHTHALMIA \/ COLOBOMA: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 126 genes","description":"\u003cp\u003eThe Anophthalmia, Microphthalmia, and Coloboma Panel is designed for the genetic study of congenital malformations of the eyeball, including complete absence of the eye (anophthalmia), reduced eye size (microphthalmia), and defects in eyeball closure (coloboma). These conditions may occur in isolation or be associated with multisystem syndromes involving neurological, craniofacial, or developmental impairment (e.g., CHARGE syndrome – CHD7, Meckel syndrome – MKS1, CEP290, or Fraser syndrome – FRAS1, FREM2). The panel includes genes involved in early eye development, eyeball morphogenesis, and retinal differentiation, enabling accurate diagnosis and the identification of hereditary or de novo causes, whether autosomal dominant, recessive, or X-linked. This study contributes to genetic counseling and comprehensive clinical management of the patient. Genes analyzed: SOX2, OTX2, PAX6, CHD7, MAB21L2, BMP4, RAX, STRA6, SHH, SIX3, and others. You can consult the complete list of genes analyzed by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131419095306,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"anomalias-congenitas-del-rinon-y-el-tracto-urinario-cakut-panel-por-exoma-clinico-sec-cnvs-86-genes","title":"CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT): CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 86 genes","description":"\u003cp\u003eThe Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) panel is designed to detect genetic variants responsible for a wide spectrum of structural renal and urological malformations, including renal agenesis, dysplasia, ureteral duplications, hydronephrosis, and vesicoureteral reflux, among others. These abnormalities are a major cause of chronic kidney disease in childhood and can occur in isolation or as part of complex genetic syndromes. The analysis includes genes involved in renal embryonic development, tubular epithelium differentiation, and signaling between the metanephric mesenchyme and the ureteric bud. Identifying pathogenic variants allows for establishing an etiological diagnosis, anticipating complications, and providing genetic counseling for families. Key genes analyzed: ACE, AGT, ANOS1, BMP4, EYA1, FRAS1, FREM1, FREM2, HNF1B, PAX2, PBX1, RET, SALL1, SIX1, UMOD, WT1, and others. For a complete list of analyzed genes, please contact Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131419128074,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"anomalias-congenitas-del-tracto-gastrointestinal-panel-por-exoma-clinico-sec-cnvs-161-genes","title":"CONGENITAL ANOMALIES OF THE GASTROINTESTINAL TRACT: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 161 genes","description":"\u003cp\u003e The Gastrointestinal Congenital Anomalies Panel analyzes 161 genes involved in the embryonic development of the digestive tract, associated with malformations such as atresias, malrotations, anorectal defects, Hirschsprung's disease, and congenital enteropathies. Using next-generation sequencing (NGS) with the detection of SNVs, indels, and CNVs, it identifies variants in genes involved in the SHH, WNT, NOTCH, BMP, and FGF pathways, which are essential for neural crest neuronal morphogenesis and migration. This analysis guides etiological diagnosis, the identification of associated syndromes, and family genetic counseling. Genes included: RET, GDNF, EDN3, EDNRB, SOX10, SHH, GLI3, JAG1, NOTCH1, FOXF1, PTF1A, TTC7A, MYO5B, and others. For a complete list of the genes studied, please contact Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131419193610,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"aortopatias-trastornos-aorticos-panel-por-exoma-clinico-sec-cnvs-65-genes","title":"AORTOPATHIES \/ AORTIC DISORDERS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 65 genes","description":"\u003cp\u003e The Aortopathies and Aortic Disorders panel allows for the detection of pathogenic or likely pathogenic genetic variants associated with aneurysms, dissections, and other connective tissue disorders affecting the aorta. The study is performed using clinical exome sequencing (NGS) with simultaneous analysis of single-cell variants (SNVs), insertions\/deletions (indels), and copy number variations (CNVs), achieving over 99% coverage of coding regions.\u003cbr\u003e\n This panel includes 65 genes implicated in aortic dissection predisposition syndromes, such as Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, familial thoracic aneurysm, and fibromuscular dysplasia, among others. Key genes included: FBN1, TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, COL3A1, LOX, PRKG1, NOTCH1, EFEMP2, FLNA, FBLN5, PLOD1, SKI, TNXB, among others.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131419226378,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"arritmias-hereditarias-panel-por-exoma-clinico-sec-cnvs-160-genes","title":"INHERITED ARRHYTHMIAS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 160 genes","description":"\u003cp\u003e The Hereditary Arrhythmias panel enables the detection of genetic variants responsible for channelopathies and cardiomyopathies associated with heart rhythm disorders, using next-generation sequencing (NGS) of the clinical exome, with simultaneous analysis of single-cell variants (SNVs), insertions\/deletions (indels), and copy number variations (CNVs). It includes 160 genes implicated in the main hereditary arrhythmogenic syndromes, such as long QT syndrome, Brugada syndrome, catecholaminergic ventricular tachycardia (CPVT), and familial sudden cardiac death syndromes, as well as genes associated with cardiomyopathies with arrhythmic risk. Top genes included: KCNQ1, KCNH2, SCN5A, RYR2, CASQ2, KCNE1, KCNE2, PKP2, DSP, DSG2, LMNA, DES, TTN, TNNT2, TNNI3, ACTC1, MYH7, PRKAG2, PLN, HCN4, TBX5, NKX2-5, GJA5, JUP, CAV3, TMEM43, BAG3, among others.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131419259146,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"artrogriposis-disfuncion-renal-colestasis-panel-por-exoma-clinico-sec-cnvs-2-genes","title":"ARTHROGRYPOSIS - RENAL DYSFUNCTION - CHOLESTASIS: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 2 genes","description":"\u003cp\u003e The Arthrogryposis, Renal Dysfunction, and Cholestasis panel analyzes the VPS33B and VIPAS39 genes, which are implicated in a hereditary multisystem syndrome characterized by congenital contractures (arthrogryposis), hepatic cholestasis, and renal abnormalities, known as ARC syndrome. These mutations affect vesicular trafficking and cell polarity, interfering with the function of hepatocytes, renal tubules, and neuromuscular development. Next-generation sequencing (NGS) analysis allows for the identification of pathogenic variants that explain the clinical presentation of this rare disorder.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131419291914,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}]}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/collections\/labgenetics.png?v=1756110136","url":"https:\/\/www.genotica.com\/en\/collections\/labgenetics.oembed","provider":"Genotica","version":"1.0","type":"link"}