Newborn Screening

Every parent desires the very best outcomes for their baby

Improving Babies Health

Saving babies lives one spot at a time.

Over 80,000 babies each year are born with an inherited genetic disorder.  All are treatable and early diagnosis is paramount to the success of managing these life-threating disorders.  ARCHIMEDlife is committed to advancing diagnostic services for better, faster and earlier detection of rare genetic disorders.  Our screening program choices combined with our expert staff and leading edge technology present the Next-Generation in Newborn Screening.

Benefits of using Our Newborn Screening Programs:

  • Initial screening when there is no or limited Newborn Screening available to babies in your country
  • Supplemental Newborn Screening for more diseases in addition to public / government programs
  • Confirmatory testing of presumptive positive results for a new baby
  • To take advantage of our newborn screening expertise to solve difficult cases
  • State of the art technology ranging from Clinical Mass Spectrometry to Next-Generation Sequencing

Complete Analysis. Reliable Results.

ARCHIMEDlife offers state-of-the-art newborn screening choices providing comprehensive analysis with the flexibility to personalize your screening.


ARCHIMEDlife’s Basic program is a carefully tailored test panel of treatable inborn errors of metabolism and other rare disorders. An exceptional approach to Newborn screening and superior to many screening programs around the world.

Amino Acid Disorders

  • Argininemia
  • Argininosuccinic aciduria
  • Citrullinemia, Type I
  • Citrullinemia, Type II
  • Classic Phenylketonuria
  • Homocystinuria
  • Hypermethioninemia
  • Benign hyperphenylalaninemia
  • Maple Syrup Urine Disease
  • Tyrosinemia, Type I
  • Tyrosinemia, Type II

Fatty Acid Oxidation Disorders

  • Carnitine Uptake Defect/Carnitine Transport Defect
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
  • Trifunctional protein deficiency
  • Short-chain acyl-CoA dehydrogenase deficiency
  • Medium/short-chain L-3-hydroxyacyl- CoA dehydrogenase deficiency
  • Medium-chain ketoacyl-CoA thiolase deficiency
  • 2,4 Dienoyl-CoA reductase deficiency
  • Carnitine palmitoyltransferase Type I deficiency
  • Carnitine palmitoyltransferase Type II deficiency
  • Carnitine acylcarnitine translocase deficiency

Organic Acid Disorders

  • Propionic acidemia
  • Methylmalonic acidemia (methylmalonyl-CoA mutase)
  • Isovaleric acidemia
  • Methylmalonic acidemia (Cobalamin disorders)
  • 3-Methylcrotonyl-CoA carboxylase deficiency
  • 3-Hydroxy-3-Methylglutaric aciduria
  • Holocarboxylase synthetase deficiency
  • ß-Ketothiolase deficiency
  • Glutaric acidemia Type I
  • Methylmalonic acidemia with homocystinuria
  • Malonic acidemia
  • Isobutyryl-CoA dehydrogenase deficiency
  • 2-methylbutyryl-CoA dehydrogenase deficiency
  • 3-Methylglutaconic aciduria Type I
  • 2-Methyl-3-hydroxybutyric aciduria
  • Glutaric acidemia Type II
  • 3-Methylglutaconic aciduria Type II, III, IV, V
  • Combined malonic and methylmalonic aciduria
  • Ornithine transcarbamylase deficiency

Endocrine / Other Disorders

  • Primary congenital hypothyroidism
  • Congenital adrenal hyperplasia
  • Biotinidase deficiency
  • Classic Galactosemia
  • Glucose-6-phosphate dehydrogenase deficiency
  • Transcobalamin deficiency


When screening needs go beyond our Basic Program, our Premium Program extends our Basic Program with several additional focused disorder programs which are customizable to benefit the health of the baby.

Basic Program Disorders

Our Premium Program includes all of the disorders from our Basic Program with additional focused disorder programs:

Lysosomal Storage Disorders

  • Fabry
  • Gaucher
  • Pompe
  • Krabbe
  • Niemann-Pick A/B
  • Mucopolysaccharidosis I
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis IIIB
  • Mucopolysaccharidosis IVA
  • Mucopolysaccharidosis VI
  • Mucopolysaccharidosis VII
  • Neuronal Ceroid Lipofuscinosis 1
  • Neuronal Ceroid Lipofuscinosis 2

Sickle Cell Disease

Cystic Fibrosis

Severe Combined Immunodeficiency

5q-Spinal Muscular Atrophy

X-linked Adrenoleukodystrophy

Adenosine Deaminase Deficiency-SCID

Improving Time to Treatment

We provide confirmatory testing in our own laboratory allowing for earlier diagnosis. Most tests are performed on the initial sample collection.


Our screening programs do not end at the initial medical report. In more complicated cases where a baby needs more than one of our standard screening options, we offer a full host of Biochemical and Genetic second-tier and confirmatory testing.

ARCHIMEDlife uses industry standard biomarkers as well as our own novel biomarkers to enhance newborn screening diagnostics.  Combined with our full compliment of genetics techologies from quantitative PCR to whole gene sequencing using Next-Generation Sequencing (NGS), we provide you with true and reliable diagnostic information for potentially affected newborns.

We perform second tier biochemical analysis for the following disorders:

  • Amino Acid Disorders, e.g. for Homocysteinuria, Tyrosinemia and others
  • Organic acid disorders, e.g. for Methylmalon- / Propionylaciduria
  • Endocrine disorders, e.g. for Congenital Adrenal Hyperplasia
  • Lysosomal Storage Disorders, e.g. for Fabry, Gaucher and Niemann-Pick A/B disease
  • X-linked Adrenoleukodystrophy
  • and many more

Our comprehensive genetics options include:

  • Cystic Fibrosis (73 mutations), or whole gene sequencing by NGS
  • Endocrine disorders such as Congenital Adrenal Hyperplasia
  • Amino Acid Disorders, e.g. Phenylketonuria, Maple syrup urine disease
  • Organic acid disorders and Fatty Acid Oxidation Disorders
  • Biotinidase Deficiency
  • Galactosemia
  • Severe Combined Immunodeficiency
  • and many more

Please contact us  at to request more detailed information on our biochemical and genetic testing or with any other questions.

How to Order

Ordering one of our newborn screening tests or programs is easy and quick.


Contact us to request one of our Newborn Screening programs.  We can be reached via E-Mail at



When selecting one of our programs, we provide a complimentary Newborn Screening Sampling Kit for easy sample collection and shipping.  Our kit contains a Dried Blood Spot (DBS) Card, Informed Consent Form (ICF), a return envelope, instructions for sample collection and other information.

It is also possible to use your own DBS card.  Just let us know when you request a program.


Once the sample is collected and dried, the patient and DBS card can be pre-registered using our WEBPORTAL for faster delivery of the electronic medical report.

Note:  Pre-registration is not required however it does reduce processing time once the card reaches our laboratory


After the DBS card is registered, send us the completed Sampling Kit in the provided envelope via our shipping instructions.

Sampling using a Dried Blood Spot Card

Dried Blood Spot (DBS) cards are most the common method of sample collection for newborn screening.  Collecting blood on a DBS card is easy, fast and minimally invasive for the newborn baby.  A few drops of blood are collected from a heel stick which can even be done by health care professionals in the home.  Dried Blood Spot cards provide optimal sample collection, transportation and storage.  We have extensive experience working with and handling DBS cards so please contact us with any questions.

Completing the Sampling Kit

Our Sampling Kit is simple to complete and is typically done in a few steps.

Preparing the kit only requires filling in the relevant patient information on the DBS card and ICF.

Collection of samples from newborns is quick and easy.  The optimal sampling time is ideally from 24 – 72 hours after birth.  Collecting samples within this timeline provides the most accurate results in clinically useful timelines.

Shipping the card to our laboratory can happen as soon as the DBS card is completely dry.  Complete the Sampling Kit by putting the dried DBS card and ICF into the provided envelope.  Send the completed kit to our lab using the most efficient means possible.

Dried Blood Spot card example

Please review our Dried Blood Spot Sampling instruction for more detailed information on collection technique, sampling times and storage requirements.  Always consult and follow your local regulations for regional specific guidelines for sample collection, storage and shipping.

The Newborn Screening Process

The process of newborn screening can be complicated and we have made distinct effort to simplify it.  This allows you to focus on what matters, your newborn patient.  From registration to results, our program will provide accurate analysis in a timely manner all with regular updates.  For detailed screening algorithms of specific disorders, please contact us at

Newborn Screening pathway