Clinical Diagnostic and Screening Services

The Neo Gen Screening Program

Neo Gen Screening is a comprehensive, state-of- the-art screening laboratory specializing in testing of newborn infants and children for inherited metabolic disease. We are an experienced laboratory having analyzed over a half million samples for inherited metabolic disorders using tandem mass spectrometry and other biochemical genetic methods. We also offer other specialty and diagnostic testing services that include urine organic acid testing and quantitative amino acid analysis.

Neo Gen Screening offers one the most complete programs for newborn and clinical screening in the world. More than 30 clinically significant and manageable diseases that affect newborns are tested for in our Supplemental and Comprehensive Newborn Screening Programs. We use the most modern, efficient, and accurate testing methods available so that we can deliver the most reliable test results available today in screening and clinical testing.

Automation and high volume testing in our routine newborn screening laboratory allow us to offer many of our programs and specialty testing services at considerably lower prices than currently available in other laboratories. Compare our prices and find out what these substantial savings are.

We are a CAP, CLIA, Pennsylvania, and New York State certified laboratory. Our professional staff includes an ABMG certified Clinical Biochemical Geneticist, an AACC Certified Clinical Chemist, and experts in Mass Spectrometry and Molecular Genetics. We participate in CDC, New Zealand, and French CF proficiency testing programs and exchange QA materials with other expert metabolic laboratories throughout the US.

We are happy to provide additional information detailing our clinical and newborn screening programs and the procedures for specimen collection, shipping and handling, pricing, and billing information.



Tests and Services:

Combined Acylcarnitine (Fatty Acids and Organic Acids) and Amino Acid Profiles using Tandem Mass Spectrometry
* Includes Free and Total Carnitine by MS/MS*
1,2,4 Filter Paper Blood Spot $ 50
1,2,4 Filter Paper Plasma Spot $ 50
2,4 Liquid Plasma $ 75
1,2,4 Filter Paper Bile Spot (postmortem) $ 100
2,4 CSF (Liquid) $ 100
2,4 Urine (Liquid) $ 100

Organic Acid Analysis by GC/MS
3 Urine, Plasma (Liquids) $ 135

Amino Acid Analysis by HPLC
3 Plasma, Urine, CSF (Liquids) $ 150
1,3 Filter Paper Blood Spot $ 150

Inborn Error Metabolic Screen
1,2,5 Filter Paper Blood Spot $ 50

PKU Specialty Screening
1,2,4 PKU Confirmatory Testing $ 35
1,2,4 PKU Clinical Monitoring $ 35
1,3 PKU Cofactor Screen (Pterins, DHPR) $ 125
1,3 Pterins only, urine spot $ 105
1,3 DHPR only, blood spot $ 30

Postmortem Screen
1,2,6 Filter Paper Blood Spot $ 35

  1. We offer free filter papers, glassines, pre-paid return mailing envelopes and sample collection instructions for each customer.

  2. Results in 2 working days

  3. Results in 2-5 working days

  4. Tandem MS only

  5. 30 metabolic disorders (tandem MS included)

  6. Acylcarnitine Profile, CAH, Biotinidase



Contact Neo Gen Screening

Free Screening Packages are available for clinical metabolic screening services. The package includes a Neo Gen Screening filter paper for collection of specimen, a glassine envelope, a prepaid pre-addressed envelope, a list of disorders, instructions for specimen collection and order forms for additional free testing packages.

To obtain a free Screening Package please contact:

Neo Gen Screening,

Phone Fax


Sample Requirements:
Blood specimens should be collected on filter paper by heel stick according to standard protocols in newborn screening laboratories. If a dried liquid blood, plasma, or bile specimen is collected originally as a liquid, we request 25 ┬ÁL aliquots be applied to filter paper in each circle. If liquid plasma, bile, CSF, or urine specimens are preferred, these samples should be sent on dry ice and shipped overnight by express courier service.

Quality On-Time Results and Reporting:
For our routine clinical screening, we provide one of the most rapid, low cost services available for acylcarnitine and amino acid analyses. We provide quantitative tandem MS results for abnormal metabolites. Please call for further information with regard to sample collection or for more details about our testing services.

At Neo Gen Screening, we strive for the most accurate result at the lowest cost possible.


Neo Gen Screening offers significant discounts
on its comprehensive and supplemental newborn screening services.

Please contact us for more information.


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