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SOFIVA Carrier Scan v1.0 / v2.0 / v3.0


Multiple Genetic Diseases Detected in a Single Analysis

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Introduction


Tens to Hundreds of Genes Tested with a Single Blood Sample


Allows parents to identify steps which can greatly Reduce the Risk of Genetic Diseases



Seeing one's baby grow up healthy is the greatest wish of any parent. According to official statistics, around the world, 3-6% of newborns die of congenital defects, and roughly 20% of these deaths are caused by genetic factors. Currently, more than 10,000 gene-related genetic diseases are known. These diseases can lead to defects in limbs and organs, cause mental defects, and even result in miscarriage. SOFIVA uses the latest Next Generation Sequencing (NGS) technology to test for tens to hundreds of genetic mutations, thereby allowing parents to identify steps which can greatly reduce the risk that their child is born with a recessive genetic disease.



Genetic Model



According to statistics, 2 out of every 100 couples give birth to a child with disease. Carriers of Autosomal Recessive (AR) disease do not display any symptoms of the disease; however, if both parents are carriers, there is a 50% chance that their baby will be a carrier and a 25% chance that their baby will be born with an AR disease. The latter situation can severely threaten the health or life of the fetus and the expecting mother.


Indication


Suitable for people who:


1. are currently pregnant or planning a pregnancy


2. are planning to donate sperm or eggs


3. have a high consanguineous marriage (see Note 1)


4. have a family history of a genetic disease (see Note 1)


5. would like to confirm whether they are carriers of genetic diseases




Note 1: Please consult your doctor or genetic counselor if the SOFIVA Carrier Scan is right for you.


Note 2: Pathogenic mechanisms of all diseases are complex, and testing technologies are not without limitations. Therefore, the genetic testing offered by SOFIVA may not reveal all possible diseases or the circumstances which gave rise to them. For information regarding reconfirmation in the event of results indicative of genetic abnormalities, please read the terms and conditions provided in the consent form.


Description


Next Generation Sequencing (NGS) + Capillary Electrophoresis Analysis


Patient Story


Recommended by International Medical Guidelines



To reduce the risk of babies being born with defects caused by single-gene abnormalities, in 2017, the American College of Obstetricians and Gynecologists (ACOG) began recommending that all couples who are planning or expecting to have a baby undergo pre-pregnancy/prenatal genetic disease counseling and chromosome testing to determine whether either parent carries genes associated with genetic diseases.



From 2004, the American College of Medical Genetics (ACMG) began recommending that couples undergo carrier screening for common genetic diseases. Expanded Carrier Screening (ECS) offers patients a more economical and accurate testing option that allows large numbers of abnormal loci to be examined in a single test.


How It Works


1. Fill out the consent form after consulting with a physician



2. Collect a blood sample from the patient



3. The test is performed in SOFIVA, Taiwan



4. Report is produced in 15 working days



5. Arrange the patient’s return for test interpretation


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