Our screening program choices deliver comprehensive analysis with the flexibility to personalize your screening program.
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-threatening disorders. ARCHIMEDlife is committed to advancing diagnostic services for better, faster, and earlier detection of rare genetic disorders.
Improving Babies Health
We developed our Baby Health Check newborn screening programs to help physicians provide parents and their children access to complex diagnostics.
Benefits of using Baby Health Check 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
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 complement of genetics technologies 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
- Severe Combined Immunodeficiency
- and many more…
Sampling using a Dried Blood Spot Card
Dried Blood Spot (DBS) cards are the most 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.
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.