Genetic Testing for Newborns
Newborn Genetic Analysis identifies DNA changes that could cause severe or life-altering symptoms in an infant. This analysis includes 255 genes and assesses over 200 disorders, covering many conditions beyond state 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.
Potential Benefits
Clear and Actionable Results
Clear and concise reporting of diagnostic results that are medically actionable. Early diagnosis and intervention can make the difference on a child's health and quality of life.Expanded Coverage of Conditions
Standard newborn screening varies state by state and is limited to mostly biochemical metabolic diseases. Go beyond the standard.Simplified
Results are provided directly to your pediatrician or provider with clear follow-up recommendations. This test can reduce complex follow-up testing or "diagnostic odyssey" for affected infants.
Targeted Conditions
| Metabolic Disorders 145 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 |
|---|---|
| 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 23 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, Usher syndrome |
How it Works
2
Schedule a time
for a sample collection
with your provider
3
Fill out a
requisition & consent form
with your provider
4
Send sample &
paperwork to Fulgent
for processing
5
Results are
returned to the provider
in 2-3 weeks
6
Discuss results
with your
provider
How to Use a Cheek Swab (no eating/breastfeeding for 30 minutes prior to collection)
1
Swab each inner cheek 10 times
2
Unscrew the cap
3
Turn cap upside down
