A Global Leader in Newborn Screening

Scroll to section

With over seven million babies screened globally since 1994, PerkinElmer Genomics is one of the world’s largest providers of newborn screening services. With a menu ranging from single biochemical screening tests to large newborn screening genetic testing panels, we strive to be a one-stop-solution for all of your newborn screening needs. PerkinElmer Genomics is dedicated to improving the lives of families by offering early detection of inherited disorders, and is proud to continue to assist in saving the lives of thousands of babies every year.

Features

  • The StepOne® Comprehensive Biochemical Profile can detect more than 50 disorders in newborns from just a few drops of blood.
    • Individual biochemical testing profiles also available. Click here to learn more.
  • Over 20 second-tier testing options to help confirm the presence of a genetic disorder after abnormal newborn screening results are reported.
  • Large genetic testing panels that can be used in combination with, or separately, from traditional newborn screening.

 

Benefits

  • Comprehensive Test Menu: From single biochemical screening tests to large newborn screening genetic testing panels, we strive to be a one-stop-shop for all of your newborn screening needs.
  • Rapid Turn-Around-Times (TAT):
    • StepOne® Comprehensive Biochemical Profile with a 3-day TAT
    • Newborn Screening Genetic Testing Panels up to only a 3-week TAT
  • Simple Sample Collection: All testing options can be performed on as little as a few drops of blood collected on a dried blood spot card.
  • Reflex Testing Available: Ability to easily reflex to second-tier diagnostic genetic testing, as needed.
  • Customizable Testing Options: If you don’t see a genetic testing option that meets your needs, we can make it for you with our AnyPanel testing option.

Testing Options

Newborn Screening Panels

The StepOne® Comprehensive Biochemical Profile is one of the most comprehensive biochemical newborn screening tests in the world, with the ability detect more than 50 disorders in newborns from just a few drops of blood.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0200
StepOne® Comprehensive Biochemical Profile
Biochemical
3 days
TEST CODE
B0200
TEST NAME
StepOne® Comprehensive Biochemical Profile
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
Second-Tier Testing Options

Second-tier testing options can be used to confirm the presence of a genetic disorder after an abnormal newborn screen result. These tests may consist of follow-up biochemical screens and/or genetic tests comprising the most common disease-causing mutations for a specific condition.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
B0002
Congenital Adrenal Hyperplasia - 17Α Hydroxyprogesterone (17 OHP)
Biochemical
3 days
B0003
Congenital Hypothyroidism - Thyroid-Stimulating Hormone (TSH)
Biochemical
3 days
B0004
Congenital Hypothyroidism - Thyroxine (T4)
Biochemical
3 days
D0405
Galactosemia Mutation Panel
Targeted Testing
10-12 days
D0408
Sickle Cell and Other Hemoglobinopathies Mutation Panel
Targeted Testing
10-12 days
D0412
Propionic Acidemia Mutation Panel
Targeted Testing
10-12 days
D0411
Methylmalonic Acidemia Mutation Panel
Targeted Testing
10-12 days
D0401
Maple Syrup Urine Disease Mutation Panel
Targeted Testing
10-12 days
D0400
MCADD Mutation Panel
Targeted Testing
10-12 days
D0407
LCHADD Mutation Panel
Targeted Testing
10-12 days
D0402
Biotinidase Deficiency Mutation Panel
Targeted Testing
10-12 days
D0410
3-MCC Deficiency Mutation Panel
Targeted Testing
10-12 days
D0403
Cystic Fibrosis Mutation Panel
Targeted Testing
10-12 days
D0409
Isovaleric Acidemia Mutation Panel
Targeted Testing
10-12 days
D0406
Glutaric Acidemia Type I Mutation Panel
Targeted Testing
10-12 days
TEST CODE
B0002
TEST NAME
Congenital Adrenal Hyperplasia - 17Α Hydroxyprogesterone (17 OHP)
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
B0003
TEST NAME
Congenital Hypothyroidism - Thyroid-Stimulating Hormone (TSH)
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
B0004
TEST NAME
Congenital Hypothyroidism - Thyroxine (T4)
NUMBER OF GENES
Biochemical
TURN AROUND TIME
3 days
TEST CODE
D0405
TEST NAME
Galactosemia Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0408
TEST NAME
Sickle Cell and Other Hemoglobinopathies Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0412
TEST NAME
Propionic Acidemia Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0411
TEST NAME
Methylmalonic Acidemia Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0401
TEST NAME
Maple Syrup Urine Disease Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0400
TEST NAME
MCADD Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0407
TEST NAME
LCHADD Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0402
TEST NAME
Biotinidase Deficiency Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0410
TEST NAME
3-MCC Deficiency Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0403
TEST NAME
Cystic Fibrosis Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0409
TEST NAME
Isovaleric Acidemia Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
TEST CODE
D0406
TEST NAME
Glutaric Acidemia Type I Mutation Panel
NUMBER OF GENES
Targeted Testing
TURN AROUND TIME
10-12 days
Comprehensive Newborn Screening Genetic Testing Panels

Comprehensive gene panels that cover conditions manifesting in the newborn and/or pediatric periods of life.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D3005
NeoSeq Newborn and Pediatric Gene Panel
1722
3 weeks
D3004
Expanded Newborn Screening and Gene Sequencing Panel
275
3 weeks
D3003
Newborn Screening and Lysosomal Storage Disease Panel
94
3 weeks
D3002
Newborn screening Gene Sequencing Panel
82
3 weeks
TEST CODE
D3005
TEST NAME
NeoSeq Newborn and Pediatric Gene Panel
NUMBER OF GENES
1722
TURN AROUND TIME
3 weeks
TEST CODE
D3004
TEST NAME
Expanded Newborn Screening and Gene Sequencing Panel
NUMBER OF GENES
275
TURN AROUND TIME
3 weeks
TEST CODE
D3003
TEST NAME
Newborn Screening and Lysosomal Storage Disease Panel
NUMBER OF GENES
94
TURN AROUND TIME
3 weeks
TEST CODE
D3002
TEST NAME
Newborn screening Gene Sequencing Panel
NUMBER OF GENES
82
TURN AROUND TIME
3 weeks
Other Testing Options

PerkinElmer also offers a variety of other useful testing options such as our AnyPanel™ test offering that allows providers to choose from over 200 expertly curated panels, or build their own custom testing panel. We also offer a whole suite of biochemical assay and genetic testing options to test for specific biochemical and metabolic conditions.

FAQs

What is the StepOne® Comprehensive Biochemical Profile?

The StepOne® Comprehensive Biochemical Profile is a newborn screening test that can detect more than 50 disorders in newborns from just a few drops of blood.

How long does it take to receive results from the StepOne® Comprehensive Biochemical Profile?

Results from the StepOne® Comprehensive Biochemical Profile are generally available in approximately 3 days.

How many disorders are screened for in the StepOne® Comprehensive Biochemical Profile?

The StepOne® Comprehensive Biochemical Profile checks for more than 50 inherited metabolic disorders. A list of the disorders can be found here.

When is the best time to order the StepOne® Comprehensive Biochemical Profile?

The StepOne® Comprehensive Biochemical Profile yields the most beneficial results within the first 7 days of life. However, metabolic screening, such as the StepOne® Comprehensive Biochemical Profile, can be performed on any child at any age.

Is a physician needed to order the StepOne® Comprehensive Biochemical Profile?

Yes, a physician must be involved in the process to ensure that the testing is appropriate for the patient. The ordering physician will also receive the test results, and coordinate any follow-up care, as needed.

What are the prices of your newborn screening testing options?

For pricing, please email PerkinElmer Genomics or call us at 1-866-354-2910.

What sample types do you accept?

All biochemical assays, including the StepOne® Comprehensive Biochemical Profile, require a dried blood sample. For any of our genetic testing options, we can accept a variety of sample types, including: Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.

How do I collect a dried blood spot sample for the StepOne® Comprehensive Biochemical Profile, or other biochemical assays?
  • Detailed directions on sample collection are included in each individual sample collection kit. Additionally, a copy of those instructions can be found here.
How do I know if I collect the sample correctly on a dried blood spot card?

For a correctly collected sample, the blood should completely fill each circle on the Dried Blood Spot Card. An example can be found here.

Can I customize your genetic testing panels?

Yes, customizable panels can be offered through our AnyPanel™ test offering. Additional details can be found here.

Do you confirm all of your genetic testing findings?

All reported variants found via genetic testing are confirmed using an orthogonal method.

What is your classification process for variants identified through genetic testing?

PerkinElmer Genomics follows the published ACMG guidelines when classifying identified variants.

Additional Resources

How to Order

StepOne® Comprehensive Biochemical Profile

  • StepOne® ordering packets may be ordered by parents or providers through this website or by calling 866-463-6436.
  • The ordering packet will be shipped directly to the patient or provider, and will contain all of the information and materials required to order the StepOne® Comprehensive Biochemical Profile.
  • Screening a newborn is easily accomplished, but it must be coordinated by a physician.
    • If you are a parent interested in the testing, take your StepOne® packet with you to the hospital at the time of delivery. Included in the packet is a letter to your physician discussing the test, and the filter paper for the blood specimen collection. Directions for the sample collection, including how to coordinate, handle, and submit the filter paper for analysis will be included.
  • All specimens should be drawn between 24 and 48 hours after birth. Please fill out completely all required fields in the ordering packet to ensure timely processing.
    • A healthcare professional will take a small sample of blood by pricking the baby’s heel and place it on the absorbent filter paper included in the packet. After the sample dries, follow the included instructions to prepare for shipment.
  • Utilize the prepaid UPS envelope provided in the ordering packet to return the sample to PerkinElmer Genomics.
    • The filter paper with the blood spots and physician’s name should both be included when the sample is submitted to the laboratory for processing.

The completed results will be sent to the ordering physician listed on the form in approximately 3 days.

 

 

For Other Newborn Screening Tests

  • Select the correct test for your patient, and fill out the Molecular and Biochemical test requisition form.
    • Please make sure that all sections are completed and that the patient has signed an informed consent form.
    • Please note that all biochemical assays require a dried blood spot sample.
  • Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us here, and we can have one sent to you directly.
    • Ensure that the patient sample is labeled with the patient name and date of birth.
  • Package the patient sample, informed consent form and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to PerkinElmer Genomics for processing.
    • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.

Where are you located?