Ending a Diagnostic Odyssey
Though collectively there are millions of people in the world that have a rare genetic disease, the diagnosis for most remains challenging as the conditions are individually incredibly uncommon. Most healthcare providers do not see enough patients with rare genetic diseases to easily and rapidly diagnose these hard to recognize conditions. Unfortunately, for many patients the search for a diagnosis becomes an odyssey that takes over 7 years, 8 doctors, and includes two to three misdiagnoses.
With our approach, healthcare providers can evaluate genes that are related to hundreds of conditions all at once instead of testing one at a time as was commonly done in the past. We believe the NewbornDx™ and RareDx™ tests will help shorten the time to a diagnosis, aid in medical management of patients, assist in family counseling, and provide possible therapeutic interventions.
RareDx™ and NewbornDx™ Tests
Each year, approximately 200,000 children will be born with faulty genes that cause them to become ill. Our tests can be used to help healthcare providers and families uncover the gene responsible for a child’s health problems. The RareDx™ test captures and sequences the portion of genes responsible for making proteins (exons), which is commonly known as the exome. These regions of the human genome contain 85% of all known disease-causing mutations. Since mutations may occur outside of the exons and because a majority of the disorders that develop early in life are caused by a known group of genes, we also developed the NewbornDx™ test that captures and sequences both exons and full genes for many of these disorders. The results from both tests are returned in about 2-4 weeks to the ordering healthcare provider in a report containing clinical interpretation of the sequence information. The team at Parabase Genomics will provide billing and insurance pre-verification support to healthcare provider ordering this test.
What is Postnatal Genetic Testing?
Why postnatal genetic testing?
Rare inherited diseases including hearing loss, inborn errors of metabolism, and lysosomal storage disorders disproportionately affect newborns. The majority of these single gene disorders have not been seen previously in the family and do not show symptoms during the pregnancy. An early diagnosis is critical in order to begin focusing management and to provide the best treatment options.
How is this different than carrier screening?
Carrier screening provides a prediction of risk for your child based on the presence or absence of genetic changes in you. It is focused on a small number of relatively common disorders, such as cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome. It is a prediction because it doesn’t directly test your child and it only tests for the most common genetic changes so cannot rule out the possibility of a child being born with a different mutation. Postnatal diagnostic testing provides the actual genetic mutations your child has now.
How is this different than prenatal screening?
Prenatal testing is aimed at detecting a small number of disorders that can occur regardless of a parent’s family history. Many conditions that can present early in life do not have symptoms during the pregnancy and, therefore, testing is not performed for these. Postnatal diagnostic testing provides a broader look at a child’s genes to find out if any changes in them could explain the symptoms he/she has.
Could my child have an inherited disorder?
Every year in the U.S. 1 in 33 babies are born with a faulty gene that makes them sick. Finding that gene faster can make all the difference. Most people find out their child has an inherited disorder after multiple tests have been performed and, consequently, have likely missed the best therapeutic options that would have been available had the test been done right at birth. Most families do not know they can ask their doctor about other options they have.
When to talk to your healthcare provider about the RareDx™ and NewbornDx™ tests?
- Your child is currently hospitalized for a possible genetic reason
- You seek a more comprehensive test than is currently offered by many hospitals
- You have visited multiple healthcare providers without a satisfactory diagnosis
- Your healthcare provider suspects a genetic cause, but testing did not provide answers
- You have exhausted all other avenues of testing
Patient or family print and give the Test Information and Letter explaining the test to their Physician
Physician and Patient complete and submit Requisition and Consent Form
Sample is submitted
Testing and interpretation are performed
Results reported to the referring physician in 1-4 weeks
How to Order a Test
Parabase Genomics is required to accept orders from health care professionals.
We can help you speak with your healthcare provider to order the test and your insurance company about pre-verification. You will need to print this letter to give to your ordering healthcare professional.
Please contact us if you have questions
Parabase Genomics can help you raise money to cover the cost of testing through a partnership with The Rare Genomics Institute. A network of clinicians then help patients interpret the results and make clicinal decisions accordingly.
Provides consumer-friendly information about the effects of genetic variations on human health. Learn about;
- 900 health conditions/disorders
- Mutations, inheritance, gentic counseling, genetic testing and genomic research
Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.