About Screening and Monitoring

PerkinElmer Genomics prides itself on offering a complete continuum of care for our patients in order to meet all of their diagnostic needs. From newborn screening to whole genome sequencing, we offer one of the widest array of testing options available to healthcare providers when navigating the diagnostic process. Our complete biochemical testing menu pairs biochemical assays (such as enzyme analysis) with a multitude of genetic testing options to ensure that providers have both the tools that they need, along with the options that that they prefer, when treating and diagnosing biochemical and metabolic conditions.

Features & Benefits of Second Tier Testing

Comprehensive menu:
Flexibility in testing options focused on biochemical and metabolic conditions
Biochemical analyte testing including metabolic profiles, enzyme analysis, disease monitoring, and more.

Rapid-Turn-Around Times (TATs):
3 days for most biochemical assays

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Test Resources

Test Requisition Form

Screening and Monitoring

Test Code Test Name Turn Around Time
B0014 Iduronate 2-Sulfatase Enzyme Analysis 2 -3 days Order Test
B0015 Galactosamine-6-Sulfatase Enzyme Analysis 2 -3 days Order Test
B0025 Beta-galactosidase Enzyme Analysis 2 -3 days Order Test
B0016 Arylsulfatase B Enzyme Analysis 2 -3 days Order Test
B0026 Beta-glucuronidase Enzyme Analysis 2 -3 days Order Test
B0017 ACID Sphingomyelinase Enzyme Analysis 2 -3 days Order Test
B0019 ACID Alpha-Glucosidase Enzyme Analysis 2 -3 days Order Test
B0027 Tripeptidyl peptidase 1 Enzyme Analysis 2 -3 days Order Test
D0416 Severe Combined Immunodeficiency – TREC Assay 2 -3 days Order Test
B0020 Sickle Cell & other Hemoglobinopathies

2 Genes

 2 -3 days Order Test
B0002 Congenital adrenal hyperplasia – 17A Hydroxyprogesterone (17 OHP) 2 -3 days Order Test
B0003 Thyroid-Stimulating Hormone (TSH) 2 -3 days Order Test
B0004 Thyroxine (T4) 2 -3 days Order Test
B0023 X-Linked Adrenoleukodystrophy – C26:0 Lysophosphatidylcholine 2 -3 days Order Test
B0024 Post Mortem – Includes: 17-Hydroxyprogesterone, Acylcarnitines, Galactose, and TSH
2 Genes		 2 -3 days Order Test
B0210 Acylcarnitine Profile 2 -3 days Order Test
B2020 Amino Acid Profile 2 -3 days Order Test
B0018 PKU Monitoring 2 -3 days Order Test
B0022 Tyrosinemia Monitoring 2 -3 days Order Test
B0021 Succinylacetone (SUAC) Enzyme Analysis 2 -3 days Order Test
B0001 Biotinidase Deficiency Enzyme Analysis (Complete/Partial) 2 -3 days Order Test
B0005 IRT Analysis (Not valid after 90 days of age) 2 -3 days Order Test
B0006 Duchenne Muscular Dystrophy Creatine Kinase Activity 2 -3 days Order Test
B0009 Galactosemia Monitoring 2 -3 days Order Test
B0011 Glucose-6-phosphate Dehyrogenase Deficiency (screening only) 2 -3 days Order Test
B2040 Lysosomal Storage Disease 6-plex Enzyme Panel 2 -3 days Order Test
B2041 Lysosomal Storage Disease 7-plex Enzyme Panel

1 Genes

 2 -3 days Order Test
B0007 Alpha-Galactosidase A Enzyme Analysis 2 -3 days Order Test
B0029 Globotriaosylsphingosine (lyso-Gb3) Monitoring 3  days Order Test
B0010 Glucocerebrosidase (Glucosylceramidase) Enzyme Analysis 2 -3 days Order Test
B0030 Glucosylsphingosine (lyso-Gb1) Monitoring 3  days Order Test
B0012 Galactocerebrosidase Enzyme Analysis 2 -3 days Order Test
B0028 Psychosine Biochemical Assay 10  days Order Test
B0013 Alpha-L-Iduronidase Enzyme Analysis 2 -3 days Order Test

How to Order

1. Choose Your Test

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2. Collect Sample

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3. Send Sample

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Screening and Monitoring FAQs

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

The TAT can vary depending on the type of test selected. In general the TATs are 3 days for most biochemical assays.

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. Click here for all Specimen Requirements.

Detailed directions on sample collection are included in each individual sample collection kit. Additionally, a copy of those instructions can be found here.

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

Contact PerkinElmer Genomics for more information

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