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.

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.

Panel Diagnostics

Enzyme, Biomarker, and Genetic testing from a single Dried Blood Spot

Available tests and panels:

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 Profile Panel - Large

  • 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

  • Analysis of Phenylalanine, Tyrosine, Leucine, Valine, Methionine, Citrulline, Ornithine, Proline, Alanine, Arginine, Aspartic acid, Glutamic acid, Glycine
from Dried Blood Spot

Citrullinemia Type I

  • Analysis for Citrulline
  • Genetic testing for CIT
from Dried Blood Spot

Maple Syrup Urine Disease

  • Analysis for Leucine, Isoleucine, Allo-isoleucine, and Valine
  • Genetic testing for BCKDHA, BCKDHB, PPM1K, and DBT
from Dried Blood Spot

Phenylketonuria (PKU) / Hyperphenylalanemia

  • Analysis for Phenylalanine, Tyrosine, and Methionine
  • Genetic testing for PAH
from Dried Blood Spot

Tyrosine plus Succinylacetone (SUAC) for Tyrosinemia Type I

  • Analysis for Tyrosine and Succinylacetone (SUAC)
  • Genetic testing for FAH
from Dried Blood Spot

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC), 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)

  • Analysis of Hydroxyvalerylcarnitine (C5OH)
  • Genetic testing for MCCC1, MCCC2, and/or HMGCL
from Dried Blood Spot

Glutaric acidemia type I (GA I)

  • Analysis of Glutarylcarnitine (C5DC)
  • Genetic testing for GCDH
from Dried Blood Spot

Homocystinuria, Hypermethioninemia and Vitamin B deficiency

  • Analysis of Homocysteine and Methionine
from Dried Blood Spot

Isobutyryl-CoA dehydrogenase deficiency (IBG)

  • Analysis of Butyrylcarnitine (C4)
  • Genetic testing for ACAD8
from Dried Blood Spot

Isovaleric acidemia (IVA) and 2-Methylbutyryl-CoA dehydrogenase (2MBG)

  • Analysis of Valerylcarnitine (C5)
  • Genetic testing for IVD, ACADSB
from Dried Blood Spot

Methylmalonic Aciduria with Homocystinuria

  • Analysis for Propionylcarnitine (C3), Acetylcarnitine (C2), Methylmalonic acid, Methylcitric acid, and Homocysteine
  • Genetic testing for ABCD4, AMN, CD320, CUBN, GIF, HCFC1, LMBRD1, MMACHC, MMADHC, TCN1, TCN2
from Dried Blood Spot

Methylmalonic Aciduria

  • Analysis for Propionylcarnitine (C3), Acetylcarnitine (C2), Methylmalonic acid, and Methylcitric acid
  • Genetic testing for ABCD4, AMN, CD320, CUBN, GIF, HCFC1, LMBRD1, MMACHC, MMADHC, TCN1, TCN2
from Dried Blood Spot

Propionic Aciduria

  • Analysis for Propionylcarnitine (C3) and Acetylcarnitine (C2)
  • Genetic testing for PCCA, PCCB
from Dried Blood Spot

Carnitine palmitoyltransferase I deficiency (CPTI)

  • Analysis of Carnitine (C0) and Carnitine (C0) ratios
  • Genetic testing for CPT1A
from Dried Blood Spot

Carnitine palmitoyltransferase II deficiency (CPTII)

  • Analysis of Hexadecanoylcarnitine (C16) and Octadecenoylcarnitine (C18:1) carnitines
  • Genetic testing for CPT2
from Dried Blood Spot

Carnitine Uptake Defect (CUD)

  • Analysis of Free Carnitine (C0)
  • Genetic testing for SLC22A5
from Dried Blood Spot

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency/ trifunctional protein deficiency (LCHAD/TFP)

  • Analysis of Hydroxytetradecanoylcarnitine (C14OH), Hydroxyhexadecanoylcarnitine (C16OH), and Hydroxyoctadecanoylcarnitine (C18OH)
  • Genetic testing for HADHA and/or HADHB
from Dried Blood Spot

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

  • Analysis of Hexanoylcarnitine (C6) and Octanoylcarnitine (C8) plus carnitine ratios
  • Genetic testing for ACADM
from Dried Blood Spot

Multiple acyl-CoA dehydrogenase deficiency (GA 2)

  • Analysis of carnitines from Butyrylcarnitine (C4) to Octadecanoylcarnitine (C18)
  • Genetic testing for ETFA, ETFB, ETFDH
from Dried Blood Spot

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

  • Analysis of Dodecanoylcarnitine (C12), Hexadecanoylcarnitine (C16), and Octadecanoylcarnitine (C18) plus carnitine ratios
  • Genetic testing for ACADVL
from Dried Blood Spot

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

--
from Urine

Orotic Acid

--
from Urine / Dried Blood Spot

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

Quality:

Fully validated and accredited according to the highest quality standards for Medical Laboratories (ISO 15189).

Methodologies used:

  • Enzyme and biomarker assays by Clinical Mass Spectrometry.
  • Genetics by Sanger and Next-Generation Sequencing platforms.

How to Order Diagnostic Services

ARCHIMEDlife Sampling Kit

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.

These 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 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

More questions about Metabolic disorders and services?

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