Diagnostic Services for Metabolic Disorders

Proven and certified diagnostic services delivering reliable results for metabolic disorders using advanced analytical techniques including enzyme, biomarker, and genetic testing.

Discover our Diagnostics

Premium diagnostic services for
Metabolic Disorders.
From enzyme and biomarker to genetic confirmation.

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 ProfileLarge Panel including free Carnitine and more than 20 acylcarnitinesfrom 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 - LargeBiochemical: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, Tryptophanfrom 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, Glycinefrom Dried Blood Spot
Citrullinemia Type IBiochemical:Analysis for Citrullinefrom Dried Blood Spot
Genetics:CIT
Maple Syrup Urine Disease
from Dried Blood Spot
Phenylketonuria (PKU) / Hyperphenylalanemia
from Dried Blood Spot
Tyrosine plus Succinylacetone (SUAC) for Tyrosinemia Type I
from Dried Blood Spot
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 Methioninefrom 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 Homocysteinefrom 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 acidfrom 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) ratiosfrom Dried Blood Spot
Genetics:Genetic testing for CPT1A
Carnitine palmitoyltransferase II deficiency (CPTII)Biochemical:Analysis of Hexadecanoylcarnitine (C16) and Octadecenoylcarnitine (C18:1) carnitinesfrom 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 ratiosfrom 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 ratiosfrom 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

Ordering Diagnostic Kits

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 though our easy and secure WEBPORTAL and receive your eletronic medical report in five simple steps.

Five Simple Steps


hand-pointing-up

1Order Sampling Kit

Blood Drop

2Collect the Sample

desktop

3Register the DBS Card

envelope

4Return the Sample

Download

5Receive your Report

Diagnostic Services

View our full selection of biochemical, biomarker, and genetic tests in our exclusive WEBPORTAL.

Sign up NowFor new users View All ServicesFor registered users