I NOSTRI TEST
GeneSeeker
Rileviamo, determiniamo e preveniamo le malattie genetiche
Detectamos, determinamos y prevenimos enfermedades genéticas
GeneSeeker utilizza la tecnologia più avanzata di sequenziamento del DNA per analizzare, nei pazienti, la possibile presenza di mutazioni che provocano malattie. L’analisi simultanea di centinaia di geni aiuta a identificare le coppie con un rischio elevato di avere un figlio colpito dalle suddette malattie.
Il Collegio americano di genetica e genomica medica (ACMG) e il Collegio americano di ostetricia e ginecologia (ACOG) raccomandano di fornire informazioni sulla compatibilità genetica a tutte le donne incinte o che stanno pianificando una gravidanza (1-2).
1. Prior, Thomas W. 2008. “Carrier Screening for Spinal Muscular Atrophy.” Genetics in Medicine: Official Journal of the American College of Medical Genetics 10 (November). The American College of Medical Genetics: 840
2. Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.” 2017. Obstetrics and Gynecology 129 (3): 595–96.
Queste malattie sono incurabili,
ma ora si possono prevenire
(*) Kingsmore S. PLOS Currents Evidence on Genomic Tests. 2012 May 2. Edition 1. doi: 10.1371/4f9877ab8ffa9.
(**) According to the World Health Organisation (OMS)
http://www.who.int/genomics/public/geneticdiseases/en/index2.html
Il test viene realizzato con DNA ricavato dai prelievi di sangue del padre e della madre. I risultati sono disponibili dopo 25 giorni lavorativi e con essi si può accertare la probabilità che un bambino soffra di malattie genetiche.
Quando si rileva una mutazione nello stesso gene dei due membri della coppia, esiste un rischio superiore di nascita di un figlio affetto da malattia genetica.
En dichos casos, las opciones In tali casi, le opzioni di concepire un bambino non affetto da malattia ereditaria includono:
Consulenza genetica previa al test
Prelievo di campione di sangue presso la clinica e invio a Juno Genetics
Il prelievo arriva al laboratorio; viene estratto e si analizza il DNA
Il referto del test viene emesso e inoltrato al medico
Examen pormenorizado de mutaciones muy frecuentes y con gran impacto, incluidas:
CFTR gene
HBB gene
HBA1/HBA2 genes
SMN1 gene
CYP21A2 gene
Examen de genes con mutaciones comunes en la población, incluidos:
CFTR gene
HBB gene
SMN1 gene
HBA1/HBA2 genes
Un banco que no ha sido genéticamente testado, utiliza óvulos con un alto riesgo de transmisión de enfermedades genéticas
Un banco genéticamente testado con el Test GeneSeeker reduce el riesgo de transmisión de enfermedades genéticas a:
G6PD deficiency is one of the most common forms of enzyme deficiency and is thought to affect more than 400 million people worldwide. It is X-linked inherited and affects individuals of all races and ethnicities. The highest prevalence rates are found in Africa, the Middle East, certain parts of the Mediterranean and certain areas of Asia. In these regions, the rate varies from 5% to 30% of the population.
An autosomal recessive disorder that mainly damages the respiratory system, but also the functioning of other organs such as the pancreas and liver. It is more common in people from northern Europe, where the incidence of cystic fibrosis is 1 in 3,200 live births. In Spain, it is estimated that 1 in 3,750 individuals suffer from the disease and the frequency of Caucasian carriers is 1 in 25 people.
This is a genodermatosis or genetic disease mainly affecting the skin; its principal manifestations are the presence of café-au-lait spots, as well as a predisposition to the development of tumours. These are usually non-cancerous (i.e. they are usually benign), although they can sometimes become malignant. Neurofibromatosis is usually diagnosed in childhood or early adulthood, and its incidence is 1 in 3,500-3,000 live newborns. In 2001, it was estimated that 13,000 people had this pathology in Spain.
this pathology is characterised by dilatation and impaired contraction of one or both ventricles of the heart. Patients usually develop congestive heart failure, which is often progressive. Arrhythmias, thromboembolism and even sudden death are common. The estimated prevalence of familial dilated cardiomyopathy is 1 in 2,500 people. It should be noted that approximately half of the cases are familial and in 40% of these, the diagnosis is genetic in origin.
Is a genetic disease caused by an alteration in chromosome 15, and it affects the proteins that form part of the connective tissue. It affects both men and women equally and, due to its autosomal dominant pattern, the probability of a patient’s children inheriting the disease is around 50%. The incidence of this syndrome is 1 in 3,000 to 5,000 people.
In addition to those described, other common inherited genetic diseases include Achondroplasia or Noonan Syndrome.
