Description
Fulgent Newborn Screening Test
Fulgent Newborn Genetic Analysis buccal swab (cheek swab) test identifies DNA changes that could cause severe or life-altering symptoms in an infant. This analysis includes 258 genes and assesses over 200 disorders, covering many conditions beyond legislated standards for newborn screening. This test only tests for early-onset conditions where early detection, intervention, and management could prove essential for the infant’s overall health and quality of life.
Fulgent Newborn Screening involves taking a cheek swab or buccal swab (DIY home test) to screen 258 genes for over 200 inherited genetic conditions and metabolic conditions in newborn babies. Current UK national NHS Newborn Screening only identifies 9 conditions but in USA they routinely screen for up to 58 conditions. Now this extended screening is available in the UK.
Each year, an estimated 7.9 million babies worldwide are born with birth defects, many of which appear healthy at birth and come from families with no history of the disorder. Many affected babies are not identified until the appearance of severe and often irreversible symptoms later in life. Detecting a disease at an early stage can enable appropriate and timely medical intervention before more serious and sometimes irreversible health issues are caused.
Following birth, an infant will undergo testing called newborn screening. Approximately a week after birth, a blood sample is collected through a heel prick test. The sample is then sent to the NHS laboratory for testing. At the laboratory, several biochemical tests are performed to screen for a select number of serious, inherited metabolic conditions. If these conditions are identified and treated early, a child usually develops normally and lives a healthy life. Unfortunately, if these conditions are not recognized within a very sensitive time window, it may be too late. Once symptoms appear, they are often irreversible and lead to severe health problems or even death. With early detection, physicians and parents have the opportunity to be proactive and change a child’s life forever.
In USA, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends screening for 32 core conditions and 26 secondary conditions as identified by the American College of Medical Genetics (ACMG). Click here to learn more!
Who is the Fulgent Newborn Screening Test suitable for:
- Parents in the UK who want a more comprehensive genetic screen for their baby
- Babies in the in the UK who have missed out on regular screening
- Babies from parents in the UK with a family history of inherited disorders or from a population identified as at higher risk for genetic disease.
What does it test for?
| Metabolic Disorders 148 Genes |
Metabolic conditions are often related to a defective gene that results in an enzyme deficiency or substrate build-up. Early detection can aid in treatment and management measures for these conditions. Management options include: Dietary modifications, hormone and enzyme replacement therapy,surgery, and surveillance. Examples: CPT II deficiency, PKU, Congenital hypothyroidism |
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| Blood Disorders 12 Genes |
Blood disorders in newborns can be a result of abnormal development of red blood cells, or malformation of blood vessels. This panel screens conditions that can lead to anemia, hyperbilirubinemia, spontaneous hemorrhaging or hemolysis, and other blood-related conditions. Early detection can aid in treatment and management measures for these conditions. Management options include: Surveillance, transfusions, bone marrow transplant therapy. Examples: Thrombocytopenia, Spherocytosis, Hereditary hemorrhagic telangiectasia |
| Hearing Loss 18 Genes |
As one of the most common congenital disorders, hearing loss can impact a child’s speech and language development. This panel analyzes the genes related to early-onset hearing loss. Early identification and intervention can improve a child’s learning, development, and quality of life. Management options include: Hearing aids, devices, and speech language therapies. Examples: Connexin-related hearing loss, Pendred syndrome |
| Cardiac Conditions 8 Genes |
Congenital heart defects can be present at birth and involves the walls and valves of the heart, as well as the arteries and veins near the heart. The NGA panel examines a number of genes associated with cardiovascular conditions are commonly identified at birth. Early detection can aid in medical management and preventive care for these conditions. Management options include: Surgery, increased surveillance Examples: Heart defects/malformations, Marfan syndrome |
| Immunodeficiency Disorders (SCID) 22 Genes |
Severe Combined Immunodeficiency (SCID) is a group of inherited disorders that causes infants to be born with a weak immune system, which includes a severe defect in their T and B cells. Early detection can help guide potential treatment options. Management options include: Prophylactic administration of antibiotics, bone marrow and stem cell transplantation Examples: Agammaglobulinemia, Chronic granulomatous disease, Omenn syndrome |
| Pediatric Cancers 13 Genes |
This test analyzes a number of genes associated with pediatric cancers that can develop in early childhood. By identifying infants who have increased risk for pediatric cancers, medical decisions, surveillance, and steps towards preventive care can be made early on. Management options include: Increased surveillance and screening Examples: Hemangioblastomas, Neurofibromatosis, Retinoblastoma, Xeroderma pigmentosum |
| Epilepsy 10 Genes |
Epilepsy is a neurological disorder where nerve cell activity in the brain is disturbed, causing seizures. Early detection implementation of treatment, management, and/or surveillance can improve overall quality of life for infants diagnosed with these conditions. Management options include: Routine monitoring, anti-epileptic medication Examples: Seizures, Encephalopathy |
| Vision Loss 4 Genes |
Vision loss in young children and infants can have an adverse effect on a child’s growth and development. Early detection can aid in treatment and management measures for these conditions. Management options include: Dietary management, vision aids, reduced sun exposure Examples: Oculocutaneous albinism, Optic atrophy |
| Other Conditions 22 Genes |
Other conditions include CFTR, kidney disease, muscular disorders, and other complex disorders. Early detection implementation of treatment, management, and/or surveillance can improve overall quality of life for infants diagnosed with these conditions. Management options include: Surveillance, medication, transplantation Examples: Cystic Fibrosis, Polycystic kidney disease, Spinal muscular atrophy |
Genetic Testing Babies Under 1
