Patients and Parents suffering from complex rare genetic diseases often have limited places to turn for testing and treatments. PerkinElmer Genetics helps turn the complex nature of the disease into more understanding by providing meaningful and actionable genetic test results.

PerkinElmer Genetics offers many medical testing options to help provide a level of understanding to your rare disease. We specialize in a comprehensive testing to help you get to your answers faster.

Why choose PerkinElmer Genetics?

We provide the most advanced combination of medical testing and resources for your medical testing needs to help you and your doctor get to an answer.

Fast Results

We have one of the shortest turnaround times for results in the industry. It’s important to receive timely results which may impact treatment options.

Single Provider

We provide convenient sample collection options and results reporting for you and your physicians.

Confidence in results

We offer the latest in screening and genetic testing technology and are supported by one of the world’s experts in genetic testing.

Small blood sample

All of our testing requires small sample volumes that minimize the stress on you or your baby.

Test Areas


Newborn ScreeningGenetic TestingGenetic Counseling Services
Newborn Screening

What is newborn screening and how it can help your newborn?

Having a new baby is one of the most exciting times in a parent’s life. However a small percentage of babies suffer from rare genetic conditions that could be life-threatening. There are a number of devastating diseases that are often present during the newborn time but are often difficult to identify right after birth. Sometimes when the disease is finally identified it is often too late. The purpose of newborn screening is to help identify some of these devastating diseases before they can do harm to the baby. Newborn screening is meant to identify a problem early on so the baby can have a chance to lead a normal and productive life.

Newborn Screening

One example of a disorder that is part of newborn screening is phenylketonuria (PKU). PKU is a condition where the body is unable to breakdown the building blocks (an amino acid) of a protein. If the amino acid builds up in the body it can cause problems with the central nervous system and cause brain damage that can lead to mental retardation. If PKU is discovered early on with newborn screening, your doctor can treat your child with a low protein diet and special medical foods. In most cases of PKU, the baby can grow up and enjoy a normal life.

PerkinElmer Genetics offers a comprehensive newborn screening in the world. We screen for over 50 different disorders. We also offer the latest genetic testing to confirm the results from the primary screen.

Genetic Testing

What is genetic testing and how it can help you or your child?

Genetic testing uses laboratory methods to look at your genes, which are the DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

Genetic testing can help to:

Genetic Testing
  • Diagnose a disease
  • Determine how a severe a disease is or can be
  • Identify changes in your gene(s) that cause a diagnosis
  • Help your doctor choose the best treatment and medicine for you or your baby
  • Identify changes in your gene(s) that can increase your risk of developing a disease
  • Identify changes in your genes that could be passed on to your children (carrier screening)
  • Screen newborns for certain treatable disorders

For more information on genetic testing please visit: https://www.genome.gov/19516567/faq-about-genetic-testing/

Genetic Counseling Services

What is Genetic Counseling and how it can help you?

Genetic counseling is a process to evaluate and understand a family's risk of an inherited medical condition. A genetic counselor is a healthcare professional with specialized training in medical genetics and counseling.

Genetic Counselors work with many types of patients based on the results of a patient’s genetic test. Based on the reason and the results of your genetic testing, genetic counselors can help with the following:

Pediatric testing
Genetic counseling is appropriate for children with an identified genetic condition such as:

Genetic Counseling
  • Developmental delay
  • Autism spectrum disorders
  • Multiple health problems or birth defects
  • Abnormal physical features
  • Family history of a genetic condition
  • Suspicion of a genetic condition

Adult testing

  • The risk that they or their children may be diagnosed with/develop an adult-onset condition
  • Genetic testing options available for diagnosis or predictive testing

Genetic counseling services at PerkinElmer will be coming soon. Until then, please visit www.nsgc.org to find a genetic counselor near you.

Ordering and Getting Results

Here are some quick links for you to get to ordering and results sections

To order tests:

To view results:
Contact your provider

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