Path to Diagnosis
Our complete catalog of laboratory diagnostic services support physicians by helping detect Rare Diseases fast. Our services are ideal for the identification of numerous metabolic disorders in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history. Many of our testing options are excellent for newborn screening for infants or asymptomatic children.
The diagnostic testing process includes pre-testing using biochemical assays for fast and reliable results, including biomarkers, where available (e.g. Lyso-GL-3 for Fabry). Additionally, you have access to our comprehensive selection of genetic tests and panels further benefiting the health of patients.
In most cases, testing is fast and easy using Dried Blood Spot (DBS) cards. This simple and minimally invasive technique supplies enough sample for biochemical testing and typically genetic confirmation testing as well.
Available tests and panels:
| Metabolic - General, Primary Diagnostics | ||
|---|---|---|
| Acylcarnitine Profile | Large Panel including free Carnitine and more than 20 acylcarnitines | from Dried Blood Spot |
| Amino Acid Profile - Large | Large Panel including over 50 amino acids incl. Leucine separation | from Plasma / Serum / Urine |
| Amino Acid Profile - Small | Analysis of Phenylalanine, Tyrosine, Leucine, Valine, Methionine, Citrulline, Ornithine, Proline, Alanine, Arginine, Aspartic acid, Glutamic acid, Glycine | from Dried Blood Spot |
| Basic Screening | Small Amino Acid / Acylcarnitine Profile | from Dried Blood Spot |
| Organic Acid Profile | Large profile with more than 40 metabolites | from Urine |
| Carnitine | Free and Total Carnitine | from Dried Blood Spot |
| Homocysteine / Methionine | Analysis for Homocystinuria, Hypermethioninemia, Vitamin B deficiency | from Dried Blood Spot |
| Methylmalonic Aciduria / Propionic Aciduria | Analysis of Methylmalonic acid and Methylcitric acid | from Dried Blood Spot |
| Tyrosine plus Succinylacetone | Analysis of Tyrosine and Succinylacetone (SUAC) for Tyrosinemia Type I | from Dried Blood Spot |
| Amino Acid Disorders - Diagnostics and Monitoring | |||
|---|---|---|---|
| Amino Acid Profile Panel - Large | Biochemical: | Analysis of Phenylalanine, Tyrosine, Leucine, Isoleucine, Allo-isoleucine, Valine, Methionine, Citrulline, Ornithine, Proline, Alanine, Arginine, Aspartic acid, Glutamic acid, Glycine, Taurine, Serine, 4-Hydroxyproline, Threonine, Anserine, a-2-Aminobutyric acid, Histidine, 1-Methylhistidine, 3-Methylhistidine, Lysine, Tryptophan | from Plasma / Urine / Cerebrospinal Fluid |
| Amino Acid Profile Panel - Small | Biochemical: | Analysis of Phenylalanine, Tyrosine, Leucine, Valine, Methionine, Citrulline, Ornithine, Proline, Alanine, Arginine, Aspartic acid, Glutamic acid, Glycine | from Dried Blood Spot |
| Citrullinemia Type I | Biochemical: | Analysis for Citrulline | from Dried Blood Spot |
| Genetics: | CIT | ||
| Maple Syrup Urine Disease | from Dried Blood Spot |
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| Phenylketonuria (PKU) / Hyperphenylalanemia | from Dried Blood Spot |
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| Tyrosine plus Succinylacetone (SUAC) for Tyrosinemia Type I | from Dried Blood Spot |
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| Organic Acid Disorders - Diagnostics and Monitoring | |||
|---|---|---|---|
| 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC), 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG) | Biochemical: | Analysis of Hydroxyvalerylcarnitine (C5OH) | from Dried Blood Spot |
| Genetics: | Genetic testing for MCCC1, MCCC2, and/or HMGCL | ||
| Glutaric acidemia type I (GA I)) | Biochemical: | Analysis of Glutarylcarnitine (C5DC) | from Dried Blood Spot |
| Genetics: | Genetic testing for GCDH | ||
| Homocystinuria, Hypermethioninemia and Vitamin B deficiency) | Biochemical: | Analysis of Homocysteine and Methionine | from Dried Blood Spot |
| Isobutyryl-CoA dehydrogenase deficiency (IBG)) | Biochemical: | Analysis of Butyrylcarnitine (C4) | from Dried Blood Spot |
| Genetics: | Genetic testing for ACAD8 | ||
| Isovaleric acidemia (IVA) and 2-Methylbutyryl-CoA dehydrogenase (2MBG)) | Biochemical: | Analysis of Valerylcarnitine (C5) | from Dried Blood Spot |
| Genetics: | Genetic testing for IVD, ACADSB | ||
| Methylmalonic Aciduria with Homocystinuria) | Biochemical: | Analysis for Propionylcarnitine (C3), Acetylcarnitine (C2), Methylmalonic acid, Methylcitric acid, and Homocysteine | from Dried Blood Spot |
| Genetics: | Genetic testing for ABCD4, AMN, CD320, CUBN, GIF, HCFC1, LMBRD1, MMACHC, MMADHC, TCN1, TCN2 | ||
| Methylmalonic Aciduria) | Biochemical: | Analysis for Propionylcarnitine (C3), Acetylcarnitine (C2), Methylmalonic acid, and Methylcitric acid | from Dried Blood Spot |
| Genetics: | Genetic testing for ABCD4, AMN, CD320, CUBN, GIF, HCFC1, LMBRD1, MMACHC, MMADHC, TCN1, TCN2 | ||
| Propionic Aciduria) | Biochemical: | Analysis for Propionylcarnitine (C3) and Acetylcarnitine (C2) | from Dried Blood Spot |
| Genetics: | Genetic testing for PCCA, PCCB | ||
| Fatty Acid Disorders - Diagnostics and Monitoring | |||
|---|---|---|---|
| Carnitine palmitoyltransferase I deficiency (CPTI) | Biochemical: | Analysis of Carnitine (C0) and Carnitine (C0) ratios | from Dried Blood Spot |
| Genetics: | Genetic testing for CPT1A | ||
| Carnitine palmitoyltransferase II deficiency (CPTII) | Biochemical: | Analysis of Hexadecanoylcarnitine (C16) and Octadecenoylcarnitine (C18:1) carnitines | from Dried Blood Spot |
| Genetics: | Genetic testing for CPT2 | ||
| Carnitine Uptake Defect (CUD) | Biochemical: | Analysis of Free Carnitine (C0) | from Dried Blood Spot |
| Genetics: | Genetic testing for SLC22A5 | ||
| Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency/ trifunctional protein deficiency (LCHAD/TFP) | Biochemical: | Analysis of Hydroxytetradecanoylcarnitine (C14OH), Hydroxyhexadecanoylcarnitine (C16OH), and Hydroxyoctadecanoylcarnitine (C18OH) | from Dried Blood Spot |
| Genetics: | Genetic testing for HADHA and/or HADHB | ||
| Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) | Biochemical: | Analysis of Hexanoylcarnitine (C6) and Octanoylcarnitine (C8) plus carnitine ratios | from Dried Blood Spot |
| Genetics: | Genetic testing for ACADM | ||
| Multiple acyl-CoA dehydrogenase deficiency (GA 2) | Biochemical: | Analysis of carnitines from Butyrylcarnitine (C4) to Octadecanoylcarnitine (C18) | from Dried Blood Spot |
| Genetics: | Genetic testing for ETFA, ETFB, ETFDH | ||
| Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) | Biochemical: | Analysis of Dodecanoylcarnitine (C12), Hexadecanoylcarnitine (C16), and Octadecanoylcarnitine (C18) plus carnitine ratios | from Dried Blood Spot |
| Genetics: | Genetic testing for ACADVL | ||
| Peroxisomal Disorders | ||
|---|---|---|
| Adrenoleukodystrophy (X-ALD) | Analysis of 1-Hexacosanoyl-2-hydroxy-sn-glycero-3-phosphocholine (C26:0 Lyso PC), 1-Lignoceroyl-2-hydroxy-sn-glycero-3-phosphocholine (C24:0 Lyso PC) | from Dried Blood Spot |
| Very Long Chain Fatty Acids (VLCFA) | -- | from Plasma |
| Phytanic acids | -- | from Plasma |
| Bile Acids | -- | from Serum |
| Purine and Pyrimidine | ||
|---|---|---|
| Purine and Pyrimidine | -- | from Urine |
| Orotic Acid | -- | from Urine / Dried Blood Spot |
| Other Metabolic Disorder Diagnostics | ||
|---|---|---|
| Biotinidase Deficiency | Analysis of Biotinidase enzyme activity | from Dried Blood Spot |
| G6PD Deficiency | Analysis of Glucose-6-phosphate dehydrogenase enzyme activity | from Dried Blood Spot |
| Galactosemia | Analysis of Galactose-1-phosphate uridyltransferase activity and Total Galactose concentration | from Dried Blood Spot |
| Guanidinoacetate | -- | from Dried Blood Spot |
| Creatinine | -- | from Serum / Urine |
| Newborn Screening | ||
|---|---|---|
| Learn all about our premium Baby Health Check newborn screening programs at www.babyhealthcheck.com | ||
| Hemoglobinopathies and Thalassemias | ||
|---|---|---|
| Learn all about our premium Baby Visit our special webpage on Hemoglobinopathies and Thalassemias with small molecule and genetic testing: www.archimedlife.com/hb-th | ||
| Lysosomal Storage Disorders | ||
|---|---|---|
| Visit our special webpage on Lysosomal Storage Disorders highlighting our enzyme, biomarker, and genetic testing options: www.archimedlife.com/lsd | ||
| Severe Combined Immunodeficiency | ||
|---|---|---|
| Visit our special webpage on Severe Combined Immunodeficiency with small molecule and genetic testing: www.archimedlife.com/scid | ||
| Muscular Disorders incl. Pompe disease and Spinal Muscular Atrophy | ||
|---|---|---|
| Visit our special webpage on muscular disorders including Pompe disease and Spinal Muscular Atrophy with enzyme, biomarker, and genetic testing options: www.archimedlife.com/muscle | ||
| Leukodystrophies and genetic Leukoencephalopathies | ||
|---|---|---|
| Visit our special webpage on Leukodystrophies and genetic Leukoencephalopathies with enzyme, biomarker, and genetic testing options: www.archimedlife.com/leukodystrophy | ||
| Pharmacogenetics incl. CYP2D6 | ||
|---|---|---|
| Visit our special webpage on Pharmacogenetics including CYP2D6: www.archimedlife.com/pharmacogenetics | ||
We offer a comprehensive list of single biochemical and genetic tests as well as full testing panels. Our services include diseases in the following categories and more. See our full website for more details.
- Metabolic Primary Diagnostics
- Amino Acid Disorders
- Organic Acid Disorders
- Fatty Acid Disorders
- Peroxisomal Disorders
- Purine and Pyrimidine
- Newborn Screening
- Hemoglobinopathies and Thalassemias
- Lysosomal Storage Disorders
- Severe Combined Immunodeficiency
- Muscular Disorders
- Leukodystrophies and genetic Leukoencephalopathies
- Pharmcogenetics
Quality:
Fully validated and accredited* according to the highest quality standards for Medical Laboratories (ISO 15189).
Methodologies:
- Enzyme and biomarker assays by Clinical Mass Spectrometry.
- Genetics by Sanger and Next-Generation Sequencing platforms.
How to Order Diagnostic Services
Our tests and diagnostic panels for Metabolic disorders typically include an enzymatic pre-test targeting enzyme deficiency and additional biomarker testing where available. In cases of positive or conspicuous pre-test results, genetic molecular analysis can be included.
All of our services are available to any interested physician or healthcare professional worldwide.
As part of our diagnostic services, we supply complimentary ARCHIMEDlife sampling kits. You can order your sampling kits and diagnostic services through our easy and secure WEBPORTAL and receive your electronic medical report in five simple steps.
Five Simple Steps
1Order Sampling Kit
2Collect the Sample
3Register the DBS Card
4Return the Sample
5Receive your Report