CARRIER
by JunoSeq
We detect, determine and prevent genetic diseases
We detect, determine and prevent genetic diseases
We detect, determine and prevent genetic diseases
CarrierTM covers critical regions of the genes assessed including some areas missed by alternative tests.
We utilise the latest DNA sequencing technology to test patients for disease causing variants. This analysis helps to identify couples who are at high risk of having an affected child.
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.
The test is carried out on DNA obtained from blood samples from the couple (man and woman or IVF patient and sperm/egg donor). Results are provided 25 working days later. Most couples at high risk of having a child affected by a serious inherited condition are identified.
We detect, determine and prevent genetic diseases
Couples can consider gamete donation from a donor who does not carry a Pathogenic/likely pathogenic variants in the same gene as the male or female partner.
Prior to an assisted reproduction treatment: It is advised to screen for mutations using the CarrierTM test in order to know whether there is an increased risk of inherited disease. This allows a reproductive strategy to be chosen that reduces any risk identified.
Prior to a treatment using donor eggs or semen: CarrierTM is used to select a donor who is not a carrier of a mutation in the same gene as the member of the couple who is providing their own gametes (eggs or sperm), greatly reducing the risk of a child affected by an inherited disorder.
Are at increased risk for a specific disorder based on ethnicity
Pretest genetic counseling
Blood sample taken at the clinic and shipped to Juno Genetics
Sample arrives at the laboratory and DNA is extracted and analysed
Test report is created and shared with your doctor
Detailed screen for mutations of high frequency and impact, including:
CFTR gene
HBB gene
HBA1/HBA2 genes
SMN1 gene
CYP21A2 gene
Screening of genes with common mutations in the population, including:
CFTR gene
HBB gene
SMN1 gene
HBA1/HBA2 genes
The GeneSeeker test from Juno Genetics provides a powerful and exclusive computerized tool, called GeneSeeker Match. This software allows egg and sperm banks to genetically match gametes with individual recipients, avoiding combinations that have a high risk of producing a child with an inherited disorder.
This unique system provides the clinic with the opportunity to make a bank available which has been pre-screened for more than 200 genetic disorders, eliminating the vast majority of inherited disease risk.
A bank which is not genetically tested, uses eggs with a high risk of passing on a genetic disease
A bank genetically tested with the GeneSeeker test, reduces the risk of transmitting a genetic disease to:
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.
