{"title":"Rare diseases","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":"genoma-mitocondrial-adn-mitocondrial","title":"Mitochondrial genome Mitochondrial DNA","description":"","brand":"Cidegen","offers":[{"title":"Default Title","offer_id":51600374071562,"sku":"1309","price":1633.5,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/files\/propuestas_cambio_diseno_genotica_11.png?v=1758022922"},{"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-completo-wes-duo","title":"Whole Exome WES Duo","description":"\u003cp\u003e cWES: NGS + CNV + mtDNA + UPD + medical report for index and 2 family members.\u003cbr\u003e \nRaw and processed data available for download free of charge for a period of 30 days via CentoPortal.\u003c\/p\u003e","brand":"Pronacera Therapeutics","offers":[{"title":"Default Title","offer_id":51600382525706,"sku":"1251","price":1560.0,"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-completo-wes","title":"Whole exome WES","description":"\u003cp\u003e cWES: NGS + CNV + mtDNA + UPD + medical report for index and 1 family member.\u003cbr\u003e\n Raw and processed data available for download free of charge for a period of 30 days via CentoPortal.\u003c\/p\u003e","brand":"Pronacera Therapeutics","offers":[{"title":"Default Title","offer_id":51600382558474,"sku":"1250","price":780.0,"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-estudio-de-la-enfermedad-de-von-willebrand","title":"Study of von Willebrand disease","description":"\u003cp\u003e Whole-exome NGS sequencing and 1-gene virtual panel analysis for von Willebrand disease (VWF)\u003c\/p\u003e","brand":"ATG Medical","offers":[{"title":"1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€] \/ Sangre EDTA","offer_id":52728657903882,"sku":"ATGM-0010-07-1","price":600.0,"currency_code":"EUR","in_stock":true},{"title":"Muestra extraída en un centro colaborador autorizado [Coste Adicional - Según zona] \/ Sangre EDTA","offer_id":52728657936650,"sku":"ATGM-0010-07-3","price":600.0,"currency_code":"EUR","in_stock":true},{"title":"4. Kit de extracción en Domicilio ADNI (Extracción con kit en Domicilio del Paciente) [+24,00€] \/ Saliva","offer_id":52728657969418,"sku":"ATGM-0010-07-6","price":624.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"exoma-completo","title":"Whole exome","description":"\u003cp\u003e Whole exome study\u003c\/p\u003e","brand":"Genodiagnosis","offers":[{"title":"Default Title","offer_id":51600416080138,"sku":"1076","price":1786.4,"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":"allaboutme-exoma-medicina-personalizada","title":"AllAboutMe - exome - personalized medicine","description":"\u003cp\u003eKnowing your DNA sequence helps us understand how your body works and allows us to recommend lifestyle changes or provide follow-up or treatment tailored to your case. Only with genetic information can we apply the 5Ps of medicine: predictive, preventative, personalized, precision, and participatory. The test is based on the complete sequencing of a person's exome, that is, of the more than 20,000 genes in the genome. This technology allows us to customize the study according to your personal and family history. The test includes a genetic counseling consultation before and after the test. The report contains information about:\u003cbr\u003e\n + 125 genes responsible for actionable diseases*\u003cbr\u003e\n + 50 important genes in the prevention of hereditary cancer\u003cbr\u003e\n + 150 genes important in reproduction (carrier and fertility)\u003cbr\u003e\n + 180 drugs involved in pharmacogenetic responses\u003cbr\u003e\n + 30 genes involved in response to food and nutrition\u003cbr\u003e \n+ 20 characteristics associated with well-being and lifestyle\u003cbr\u003e\n + 30 subpopulations and ancestral characteristics in an origins report\u003cbr\u003e\n + personalized gene panel based on your personal and family history\"\u003c\/p\u003e","brand":"ADNinstitut","offers":[{"title":"Default Title","offer_id":51600421716234,"sku":"1035","price":545.0,"currency_code":"EUR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/files\/propuestas_cambio_diseno_genotica_5.png?v=1767115739"},{"product_id":"analisis-numero-de-copias-genes-smn1-y-smn2-atrofia-muscular-espinal-prueba-diagnostico","title":"SMN1 and SMN2 gene copy number analysis - Spinal muscular atrophy (diagnostic test)","description":"\u003cp\u003eSpinal muscular atrophy encompasses a group of genetic disorders characterized by muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord. At the genetic level, the most common types are caused by a mutation in the SMN1 gene, which renders it nonfunctional and results in the loss of production of the SMN (Survival Motor Neuron) protein, which is key to maintaining motor neurons.\u003c\/p\u003e","brand":"ADNinstitut","offers":[{"title":"1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€] \/ Sangre EDTA","offer_id":52725328969994,"sku":"ADNI-0019-07-1","price":465.0,"currency_code":"EUR","in_stock":true},{"title":"1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€] \/ Hisopo Bucal \/ Saliva","offer_id":52725329002762,"sku":"ADNI-0019-07-2","price":465.0,"currency_code":"EUR","in_stock":true},{"title":"2. Muestra extraída en ADNInstitut (Sant Cugat del Vallès, Barcelona) [+0,00€] \/ Sangre EDTA","offer_id":52725329035530,"sku":"ADNI-0019-07-3","price":465.0,"currency_code":"EUR","in_stock":true},{"title":"2. Muestra extraída en ADNInstitut (Sant Cugat del Vallès, Barcelona) [+0,00€] \/ Hisopo Bucal \/ Saliva","offer_id":52725329068298,"sku":"ADNI-0019-07-4","price":465.0,"currency_code":"EUR","in_stock":true},{"title":"3. Muestra extraída en Centro Colaborador\/Enfermero a Domicilio [+70,00€] \/ Sangre EDTA","offer_id":52725329101066,"sku":"ADNI-0019-07-5","price":535.0,"currency_code":"EUR","in_stock":true},{"title":"3. Muestra extraída en Centro Colaborador\/Enfermero a Domicilio [+70,00€] \/ Hisopo Bucal \/ Saliva","offer_id":52725329133834,"sku":"ADNI-0019-07-6","price":535.0,"currency_code":"EUR","in_stock":true},{"title":"4. Kit de extracción en Domicilio ADNI (Extracción con kit en Domicilio del Paciente) [+24,00€] \/ Hisopo Bucal \/ Saliva","offer_id":52725329166602,"sku":"ADNI-0019-07-8","price":489.0,"currency_code":"EUR","in_stock":true},{"title":"5. Autotest: Muestra con hisopos (bastoncillos) extraída en domicilio [+0,00€] \/ Hisopo Bucal \/ Saliva","offer_id":52725329199370,"sku":"ADNI-0019-07-10","price":465.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"qalygen-exoma","title":"QalyGEN Exome","description":"\u003cp\u003eThe QalyGEN Exome study analyzes up to 22,000 genes, with the aim of\u003cbr\u003e\n offer better clinical diagnoses and more personalized treatments. This study\u003cbr\u003e\n offers 1- The analysis of the 73 genes recommended by the ACMG whose mutations give rise\u003cbr\u003e\n to diseases that can be prevented or treated. 2- Carrier screening for families\u003cbr\u003e\n who consider pregnancy to detect the risk of hereditary diseases in children.\u003cbr\u003e\n 3- Detection of conditions in patients who present symptoms of diseases\u003cbr\u003e\n genetic diseases that have not been diagnosed 3- Detection of congenital diseases\u003cbr\u003e\n appearance in early childhood.\u003c\/p\u003e","brand":"QalyGen","offers":[{"title":"Default Title","offer_id":51600431972618,"sku":"980","price":980.0,"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":"displasias-oseas","title":"Bone Dysplasias","description":"\u003cp\u003e Bone dysplasias are a group of disorders of genetic origin that are essentially monogenic and should be suspected, especially in the presence of disproportion of body segments.\u003c\/p\u003e","brand":"GenoLife","offers":[{"title":"Default Title","offer_id":51600450355466,"sku":"896","price":1261.0,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0900\/6661\/6586\/files\/propuestas_cambio_diseno_genotica_5.png?v=1767115739"},{"product_id":"analisis-bioinformatico-de-exoma","title":"Exome bioinformatics analysis","description":"\u003cp\u003eUsing raw data (fastaq files), a new analysis of genetic variants, new genes, or updates to recent data is performed. A personalized analysis of the case is performed for clinical and genetic updates.\u003c\/p\u003e","brand":"GenoLife","offers":[{"title":"Default Title","offer_id":51600451338506,"sku":"890","price":227.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"secuenciacion-de-exoma-clinico-dirigido-trio","title":"Clinical Exome Sequencing, Targeted TRIO","description":"\u003cp\u003eExome analysis based on the selection of genes associated with the patient's phenotype. After sequencing the patient's 19,000 genes, those associated with the clinical picture are analyzed. Technique: Next-generation sequencing (NGS). Includes a panel of genes recommended by the American College of Medical Genetics and Genomics (ACMG).\u003c\/p\u003e","brand":"GenoLife","offers":[{"title":"Default Title","offer_id":51600452518154,"sku":"884","price":2491.0,"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":"secuenciacion-de-exoma-clinico","title":"Clinical Exome Sequencing","description":"\u003cp\u003e Exome analysis based on the selection of genes associated with the patient's phenotype. After sequencing the patient's 19,000 genes, those associated with the clinical picture are analyzed. Technique: Next-generation sequencing (NGS). Includes a panel of genes recommended by the American College of Medical Genetics and Genomics (ACMG).\u003c\/p\u003e","brand":"GenoLife","offers":[{"title":"Default Title","offer_id":51600452550922,"sku":"883","price":1299.0,"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":"adntro-whole-exome-exoma-completo","title":"ADNTRO WHOLE EXOME - COMPLETE EXOME","description":"\u003cp\u003e Whole exome analysis with 150X coverage - Valid for clinical diagnosis (NOTE: includes BAM and VCF files for bioinformatics analysis)\u003c\/p\u003e","brand":"ADNTRO","offers":[{"title":"Default Title","offer_id":51600489316618,"sku":"795","price":499.0,"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":"test-deficit-de-dao","title":"DAO deficiency test","description":"\u003cp\u003e Genetic\/enzymatic study focused on diamine oxidase (DAO) deficiency.\u003c\/p\u003e","brand":"ADNInstitut","offers":[{"title":"Sangre EDTA \/ 1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€]","offer_id":52734840176906,"sku":"ADNI-0020-03","price":155.0,"currency_code":"EUR","in_stock":true},{"title":"Sangre EDTA \/ 2. Muestra extraída en ADNInstitut (Sant Cugat del Vallès, Barcelona) [+0,00€]","offer_id":52734840209674,"sku":"ADNI-0020-04","price":155.0,"currency_code":"EUR","in_stock":true},{"title":"Sangre EDTA \/ 3. Muestra extraída en Centro Colaborador\/Enfermero a Domicilio [+70,00€]","offer_id":52734840242442,"sku":"ADNI-0020-05","price":155.0,"currency_code":"EUR","in_stock":true},{"title":"Saliva \/ 4. Kit de extracción en Domicilio ADNI (Extracción con kit en Domicilio del Paciente) [+24,00€]","offer_id":52734840275210,"sku":"ADNI-0020-010","price":155.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"analisis-65-genes-conectivopatias-sindrome-de-ehlers-danlos-sindrome-de-marfan-osteogenesis-imperfecta-sindrome-de-loeys-dietx-etc-mediante-exoma","title":"Analysis of 65 connective tissue disease genes (Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, Loeys-Dietx syndrome, etc.) using exome sequencing","description":"\u003cp\u003e NGS sequencing of 65 genes associated with Dietx, etc.) via exome for molecular diagnosis.\u003c\/p\u003e","brand":"ADNInstitut","offers":[{"title":"Sangre EDTA \/ 1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€]","offer_id":52735557533962,"sku":"ADNI-0023-012","price":990.0,"currency_code":"EUR","in_stock":true},{"title":"Sangre EDTA \/ 2. Muestra extraída en ADNInstitut (Sant Cugat del Vallès, Barcelona) [+0,00€]","offer_id":52735557566730,"sku":"ADNI-0023-013","price":990.0,"currency_code":"EUR","in_stock":true},{"title":"Sangre EDTA \/ 3. Muestra extraída en Centro Colaborador\/Enfermero a Domicilio [+70,00€]","offer_id":52735557599498,"sku":"ADNI-0023-014","price":1060.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€]","offer_id":52735557697802,"sku":"ADNI-0023-07","price":990.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 2. Muestra extraída en ADNInstitut (Sant Cugat del Vallès, Barcelona) [+0,00€]","offer_id":52735557730570,"sku":"ADNI-0023-08","price":990.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 3. Muestra extraída en Centro Colaborador\/Enfermero a Domicilio [+70,00€]","offer_id":52735557763338,"sku":"ADNI-0023-09","price":1060.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 4. Kit de extracción en Domicilio ADNI (Extracción con kit en Domicilio del Paciente) [+24,00€]","offer_id":52735557796106,"sku":"ADNI-0023-010","price":1014.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 5. Autotest: Muestra con hisopos (bastoncillos) extraída en domicilio [+0,00€]","offer_id":52735557828874,"sku":"ADNI-0023-011","price":990.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"analisis-gen-fbn1-sindrome-de-marfan","title":"FBN1 gene analysis - Marfan syndrome","description":"\u003cp\u003e Study of the FBN1-S gene by sequencing for the indicated pathology.\u003c\/p\u003e","brand":"ADNInstitut","offers":[{"title":"Sangre EDTA \/ 1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€]","offer_id":52735625986314,"sku":"ADNI-0024-07","price":690.0,"currency_code":"EUR","in_stock":true},{"title":"Sangre EDTA \/ 2. Muestra extraída en ADNInstitut (Sant Cugat del Vallès, Barcelona) [+0,00€]","offer_id":52735626019082,"sku":"ADNI-0024-08","price":690.0,"currency_code":"EUR","in_stock":true},{"title":"Sangre EDTA \/ 3. Muestra extraída en Centro Colaborador\/Enfermero a Domicilio [+70,00€]","offer_id":52735626051850,"sku":"ADNI-0024-09","price":760.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€]","offer_id":52735626084618,"sku":"ADNI-0024-012","price":690.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 2. Muestra extraída en ADNInstitut (Sant Cugat del Vallès, Barcelona) [+0,00€]","offer_id":52735626117386,"sku":"ADNI-0024-013","price":690.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 3. Muestra extraída en Centro Colaborador\/Enfermero a Domicilio [+70,00€]","offer_id":52735626150154,"sku":"ADNI-0024-014","price":760.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 4. Kit de extracción en Domicilio ADNI (Extracción con kit en Domicilio del Paciente) [+24,00€]","offer_id":52735626182922,"sku":"ADNI-0024-015","price":714.0,"currency_code":"EUR","in_stock":true},{"title":"Hisopo Bucal \/ Saliva \/ 5. Autotest: Muestra con hisopos (bastoncillos) extraída en domicilio [+0,00€]","offer_id":52735626215690,"sku":"ADNI-0024-016","price":690.0,"currency_code":"EUR","in_stock":true}]},{"product_id":"sindrome-de-beckwith-wiedemann-delecciones-duplicaciones-mlpa-region-11p15-alteraciones-de-metilacion-y-cnvs-atg-medical","title":"SÍNDROME DE BECKWITH-WIEDEMANN: DELECCIONES\/DUPLICACIONES + MLPA REGIÓN 11p15 (ALTERACIONES DE METILACIÓN y CNVs) – ATG Medical","description":"\u003ch3\u003e\u003cstrong\u003eDESCRIPCIÓN\u003c\/strong\u003e\u003c\/h3\u003e\n\u003cp\u003eEl estudio genético del síndrome de Beckwith-Wiedemann es una prueba dirigida orientada a la identificación de alteraciones genéticas asociadas a este trastorno del crecimiento.\u003c\/p\u003e\n\u003cp\u003e Se trata de una enfermedad genética caracterizada por un crecimiento excesivo durante el desarrollo fetal y la infancia, así como por una mayor predisposición a determinados tumores pediátricos.\u003c\/p\u003e\n\u003cp\u003eEl síndrome de Beckwith-Wiedemann se asocia principalmente a alteraciones en regiones específicas del cromosoma 11 implicadas en la regulación del crecimiento celular.\u003c\/p\u003e\n\u003cp\u003eEstas alteraciones pueden consistir en cambios estructurales como deleciones o duplicaciones que afectan a regiones reguladoras del control génico.\u003c\/p\u003e\n\u003cp\u003eEl análisis genético permite identificar estas alteraciones y contribuir al diagnóstico molecular del síndrome, así como apoyar el seguimiento clínico y el asesoramiento genético en pacientes y familias afectadas.\u003c\/p\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003ch3\u003e\u003cstrong\u003eQUÉ INCLUYE EL TEST\u003c\/strong\u003e\u003c\/h3\u003e\n\u003cp\u003eEl test incluye el estudio de deleciones y duplicaciones en regiones genómicas asociadas al síndrome de Beckwith-Wiedemann mediante la técnica MLPA (Multiplex Ligation-dependent Probe Amplification).\u003c\/p\u003e\n\u003cp\u003eEste análisis permite detectar alteraciones en el número de copias de regiones específicas implicadas en la regulación del crecimiento y relacionadas con este síndrome.\u003c\/p\u003e\n\u003cp\u003eEl resultado se presenta en un informe genético elaborado por especialistas en genética clínica, que recoge los hallazgos identificados y su interpretación en el contexto clínico aportado.\u003c\/p\u003e\n\u003cp\u003e La prueba se realiza a partir de una muestra biológica válida obtenida mediante sangre o saliva.\u003c\/p\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003ch3\u003e\u003cstrong\u003e¿A QUIÉN VA DIRIGIDO?\u003c\/strong\u003e\u003c\/h3\u003e\n\u003cp\u003eEste test está especialmente recomendado en los siguientes casos:\u003c\/p\u003e\n\u003cp\u003e• Pacientes con sospecha clínica de síndrome de Beckwith-Wiedemann.\u003cbr\u003e• Niños con crecimiento excesivo o macrosomía de origen no aclarado.\u003cbr\u003e• Estudios genéticos en pacientes con características clínicas compatibles con este síndrome.\u003cbr\u003e• Evaluación genética en unidades de genética clínica o pediatría.\u003cbr\u003e• Asesoramiento genético en familias con antecedentes del síndrome.\u003c\/p\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003ch3\u003e\u003cstrong\u003eENVÍO Y RECEPCIÓN DE LA MUESTRA\u003c\/strong\u003e\u003c\/h3\u003e\n\u003cp\u003e\u003cstrong\u003eEl kit de extracción de saliva y la extracción en centro colaborador tiene un COSTE ADICIONAL. Los costes de envío y recogida son GRATUITOS.\u003c\/strong\u003e\u003cbr\u003e\u003cstrong\u003e\u003c\/strong\u003e\u003c\/p\u003e\n\u003ch4\u003e\n\u003cstrong\u003e\u003c\/strong\u003e\u003cbr\u003e\n\u003c\/h4\u003e\n\u003ch4\u003e\u003cstrong\u003eSi eres un cliente particular:\u003c\/strong\u003e\u003c\/h4\u003e\n\u003cdiv\u003e1.\u003cspan\u003e \u003c\/span\u003eUna vez adquirido el test, puedes realizar la \u003cstrong\u003eextracción sanguínea\u003c\/strong\u003e en un \u003cstrong\u003ecentro colaborador cercano [coste adicional: 25,00 -50,00€ según centro elegido].\u003c\/strong\u003e\n\u003c\/div\u003e\n\u003cdiv\u003e2.\u003cspan\u003e \u003c\/span\u003eSi lo prefieres, este test también está disponible mediante \u003cstrong\u003eauto-toma de muestra con \u003c\/strong\u003e\u003cstrong\u003ekit de saliva [+25,00€ incluido envío y recogida].\u003c\/strong\u003e En este último caso, te enviaremos el kit directamente a tu domicilio:\u003c\/div\u003e\n\u003cul\u003e\n\u003cli\u003e\u003cspan\u003eRecibe el kit en casa y realiza la toma de la muestra siguiendo las instrucciones.\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eUna vez obtenida la muestra, podrás solicitar su recogida para el envío al laboratorio.\u003c\/span\u003e\u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003eEl kit incluye todas las instrucciones detalladas para realizar correctamente la toma y gestionar la recogida.\u003c\/span\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cdiv\u003e3.\u003cspan\u003e \u003c\/span\u003eNos encargamos de la \u003cstrong\u003erecogida y del envío \u003c\/strong\u003ede la muestra siguiendo los protocolos establecidos de transporte y conservación.\u003c\/div\u003e\n\u003cdiv\u003e4.\u003cspan\u003e \u003c\/span\u003eLa muestra es enviada al laboratorio para la realización del \u003cstrong\u003eanálisis genético\u003c\/strong\u003e.\u003c\/div\u003e\n\u003cdiv\u003e5.\u003cspan\u003e \u003c\/span\u003eEl plazo estimado para todo el proceso, desde la recepción de la muestra en el laboratorio hasta la emisión de los \u003cstrong\u003eresultados\u003c\/strong\u003e, es de aproximadamente \u003cstrong\u003e4-6\u003c\/strong\u003e \u003cstrong\u003esemanas.\u003c\/strong\u003e Este plazo puede verse ligeramente incrementado en situaciones excepcionales.\u003c\/div\u003e\n\u003cdiv\u003e\u003cem\u003e\u003cstrong\u003eEs importante que la interpretación de los resultados del test genético sea realizada por un profesional médico cualificado.\u003c\/strong\u003e\u003c\/em\u003e\u003c\/div\u003e\n\u003cdiv\u003e\u003cbr\u003e\u003c\/div\u003e\n\u003ch4\u003e\u003cstrong\u003eSi eres un profesional sanitario o centro médico:\u003c\/strong\u003e\u003c\/h4\u003e\n\u003cdiv\u003e1.\u003cspan\u003e \u003c\/span\u003eLa toma de muestra puede realizarse en el propio centro mediante:\u003c\/div\u003e\n\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eExtracción sanguínea en tubo EDTA\u003c\/strong\u003e, coordinando la recogida en tu centro \u003cstrong\u003e[Sin coste adicional - Recogida gratuita].\u003c\/strong\u003e \u003c\/li\u003e\n\u003cli\u003e\u003cspan\u003e\u003cstrong\u003eKit de saliva \u003cmeta charset=\"utf-8\"\u003e[+25,00€ incluido envío y recogida]\u003c\/strong\u003e, enviamos el kit recolector a tu centro.\u003c\/span\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003cdiv\u003e2.\u003cspan\u003e \u003c\/span\u003eLa muestra debe enviarse al laboratorio siguiendo los \u003cstrong\u003eprotocolos de envío.\u003c\/strong\u003e establecidos, garantizando su correcta identificación, conservación y transporte.\u003c\/div\u003e\n\u003cdiv\u003e3.\u003cspan\u003e \u003c\/span\u003eUna vez recibida la muestra en el laboratorio, se inicia el proceso de \u003cstrong\u003eanálisis genético\u003c\/strong\u003e.\u003c\/div\u003e\n\u003cdiv\u003e4.\u003cspan\u003e \u003c\/span\u003eEl plazo estimado de \u003cstrong\u003eresultados\u003c\/strong\u003e es de \u003cstrong\u003e4-6\u003c\/strong\u003e \u003cstrong\u003esemanas \u003c\/strong\u003edesde la recepción de la muestra. Este tiempo puede variar en función del volumen de muestras o de circunstancias logísticas excepcionales. \u003c\/div\u003e\n\u003cp\u003e \u003c\/p\u003e\n\u003ch3\u003e\u003cstrong\u003e¿TIENES DUDAS?\u003c\/strong\u003e\u003c\/h3\u003e\n\u003cp\u003eSi tienes cualquier duda sobre el test, el proceso de análisis o la interpretación de los resultados, nuestro equipo está disponible para ofrecerte soporte y orientación especializada. De forma opcional, puedes contratar una consulta especializada para que un profesional sanitario valore el caso de manera individualizada.\u003c\/p\u003e\n\u003cp\u003e \u003c\/p\u003e","brand":"ATG Medical","offers":[{"title":"1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€] \/ Saliva","offer_id":52734825365770,"sku":"ATGM-0005-07-2","price":600.0,"currency_code":"EUR","in_stock":true},{"title":"1. Muestra extraída directamente en la clínica o centro solicitante [+0,00€] \/ Sangre EDTA","offer_id":52734825398538,"sku":"ATGM-0005-07-3","price":600.0,"currency_code":"EUR","in_stock":true},{"title":"Muestra extraída en un centro colaborador autorizado [Coste Adicional - Según zona] \/ Saliva","offer_id":52734825431306,"sku":"ATGM-0005-07-4","price":600.0,"currency_code":"EUR","in_stock":true},{"title":"Muestra extraída en un centro colaborador autorizado [Coste Adicional - Según zona] \/ Sangre EDTA","offer_id":52734825464074,"sku":"ATGM-0005-07-5","price":600.0,"currency_code":"EUR","in_stock":true},{"title":"4. Kit de extracción en Domicilio ADNI (Extracción con kit en Domicilio del Paciente) [+24,00€] \/ Saliva","offer_id":52734825496842,"sku":"ATGM-0005-07-6","price":624.0,"currency_code":"EUR","in_stock":true}]}],"url":"https:\/\/www.genotica.com\/en\/collections\/enfermedades-raras.oembed","provider":"Genotica","version":"1.0","type":"link"}