DNA Screening

DNA Confirmatory Testing
PerkinElmer Genetics' metabolic screening laboratory provides second tier DNA confirmation testing for several disorders found to have common mutations for presumptive positive newborn screens at no extra charge.
In addition to newborn DNA testing, the Molecular Testing Department provides confirmatory DNA testing. This testing is performed when people have suspected diagnosis of a particular disorder as well as clinical manifestations of the disease. This service is voluntary and is available to everyone. A test requisition form is required. Screening tests are highly accurate but are not 100% guaranteed since only the common mutations are screened.

DNA Tests Available
The molecular testing department screens for the common mutations found in the following conditions:

  • Biotinidase
  • Cystic Fibrosis
  • Galactosemia
  • G6PD Deficiency
  • Glutaric Aciduria Type 1(Amish population only)
  • MCAD Deficiency
  • LCHAD Deficiency
  • Sickle Cell Anemia and Other Hemoglobinopathies

New York State Physicians,
A limited panel of second tier DNA-based testing is available to NYS babies: 39 common mutations for Cystic Fibrosis; Q188R, N314D (Duarte) and S135L in galactosemia, 985A>G in MCAD deficiency and 1528G>C in LCHAD deficiency. If you require more extensive testing on a particular baby, we suggest that you request an "Orphan Disease Exemption" (ODE) by contacting Michele Caggana, Sc.D at the NYS Department of Health (phone: 518-474-6271 fax: 518-486-2693).

Please note that the turnaround time on this additional testing will be three working days from the receipt of the ODE at PerkinElmer Genetics (Fax to the PerkinElmer Genetics Counseling team at 412-220-0785). No testing will begin until all forms, including the NYS required genetic testing consent form has been received.

DNA Carrier Screening
DNA carrier testing offers potential parents the opportunity to find out if they are a carrier for a common inherited disease. Certain genetic disorders are more common among people of the same ethnicity or background, increasing the risk of inheriting the disease. In addition, extended family members of a child with a known disease should also consider carrier testing to see if that abnormal gene runs in their family.

The testing uses the DNA contained in genes in a dried blood spot to determine the potential for passing on an abnormal gene to children. Our genes are blueprints that determine how we grow and develop. They contain our DNA, which codes for specific traits in all of us, such as eye color. Each of us carries around 30,000 genes. Sometimes, genes do not function properly because of a chemical abnormality in a part of our DNA structure. These abnormalities are called mutations.

Most of our genes are inherited in pairs. One copy comes from each of our parents. If one copy of the two genes we inherit from our parents is normal, this is usually enough to prevent a specific disease. It's when we get two copies of an abnormal gene that we usually diagnose a disease. Individuals of different ethnic backgrounds have greater risks for certain diseases than others.

When an individual has inherited a normal gene from one parent and an abnormal gene from the other, we call them "carriers" of that particular gene. Most people who are carriers usually have no effects on their health in any way and are completely normal. People who are carriers though, have a chance of passing on an abnormal gene to their children. If both parents are carriers for the same gene that causes a disease, the child has a 25% chance of inheriting both abnormal genes and will have that disease.