Parents Guide to Genetic Testing with HNL Genomics
Essential Guide for Parents: Understanding Genetic Testing with HNL Genomics
HNL Genomics offers several different types of genetic testing for your family. We know that staying on top of the latest medical advancements can be a difficult and time-consuming process, especially while caring for a family member or dealing with a health issue yourself.
This guide is a quick summary of common genetic testing services that can give some insight into the health of you or a loved one.
Carrier Screening
Identifying carriers of genetic conditions through testing is important for all prospective parents, even those without a family history of genetic disorders, since many genetic disorders are rare and may not be evident in family histories. This information helps in family planning and understanding the risks of passing conditions to their children.
HNL Lab Medicine offers carrier screening for 46 recessive and X-linked genetic disorders. Some of the most common conditions include cystic fibrosis, spinal muscular atrophy, Fragile X, and sickle cell disease, which are included in our common carrier screening panel.
HNL Lab Medicine also offers an extended carrier screening panel which includes 29 additional genes. For those wishing to test for a specific condition, we offer single gene carrier screening tests.
Noninvasive Prenatal Screening
During pregnancy, there are different types of screening options for your baby’s health. One type of screening can assess your baby’s risk for certain genetic disorders. Prenatal genetic tests can screen the baby for conditions such as aneuploidy of certain chromosomes, defects of the brain and spine called neural tube defects, and some defects of the abdomen, heart, and facial features.
Noninvasive Prenatal Screening (NIPS) is a simple blood test that can help patients understand the health of their baby. During pregnancy, a small amount of DNA is released from the placenta into a woman’s bloodstream. Using a blood sample from the mother, this DNA is screened for Down syndrome (trisomy 21), Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), and problems with the number of sex chromosomes.
Additionally, NIPS can identify the baby’s sex. This test is a less invasive and more accessible option, and it can be done starting at 10 weeks of pregnancy. A positive NIPS result can be followed by a diagnostic test such as amniocentesis or chorionic villus sampling.
Newborn Screening
Newborn screening is used to test newborn babies for metabolic, endocrine, and hemoglobin disorders, as well as congenital heart disease and hearing loss. The majority of these diseases are genetic.
The testing identifies babies with certain disorders which, without appropriate intervention, can permanently impact them and their families. Early recognition and treatment of most of these disorders leads to a better outcome for the newborn.
Pennsylvania screens newborns for 63 disorders, including sickle cell disease, spinal muscular atrophy, phenylketonuria, and cystic fibrosis.
Diagnosis of Genetic Disorders
Genetic testing can confirm the presence of suspected genetic disorders in children, such as cystic fibrosis, muscular dystrophy, or Down syndrome. By analyzing a child’s DNA, genetic tests can identify specific variations or chromosomal abnormalities that cause these conditions to provide a definitive diagnosis.
Confirmation enables healthcare providers to implement targeted treatments and interventions early, which can significantly improve the child’s quality of life. It also offers families clarity and understanding of their child’s condition, allowing them to make informed decisions about care, support, and future family planning.
Choose HNL Lab Medicine
No matter the type of genetic testing that best serves you and your family, HNL Lab Medicine can help.
Whether you are preparing for parenthood, navigating a pregnancy, or seeking clarity on a diagnosis, our genetic testing services provide the information you need to get the healthcare you deserve.
For more information on our genetic testing services, visit HNL Genomics.