-
Test objective: To assess the body's vitamin D supply, including specifically:
- differential diagnosis of the causes of rickets and osteomalacia, low-energy fractures unrelated to high-force trauma, i.e., calcium-phosphate disorders
- monitoring of therapy/supplementation with vitamin D preparations
- diagnosis of hypovitaminosis, hypervitaminosis, and vitamin D poisoning
- indications for the determination of 25(OH)D are also intestinal malabsorption, nephrotic syndrome, liver disease, decreased muscle and bone mass, treatment with corticosteroids, antiepileptic drugs, and immunosuppressants.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
-
Analysed substances:
- 25(OH)D3 (calcifediol, calcidiol, or 25-hydroxy vitamin D3)
- 25(OH)D2 (25-hydroxy vitamin D2)
- 24,25(OH)2D3 (24,25-dihydroxy vitamin D3)
- Epi-25(OH)D3 an empirical form with reduced biological activity – it is measured, but due to lack of clinical interpretation is not presented on the result
- Type of test material: Dried blood spot, serum, plasma.
- Test category: DBS, Metabolomic
Methods
VITD_DBS
Quantitative determination of vitamin D metabolites in DBS by LC-MS/MS technique
VITD_SP
Quantitative determination of vitamin D metabolites in serum/plasma by LC-MS/MS technique
-
Test objective: To assess the body's vitamin D supply, including specifically:
- differential diagnosis of the causes of rickets and osteomalacia, low-energy fractures unrelated to high-force trauma, i.e., calcium-phosphate disorders
- monitoring of therapy/supplementation with vitamin D preparations
- diagnosis of hypovitaminosis, hypervitaminosis, and vitamin D poisoning
- indications for the determination of 25(OH)D are also intestinal malabsorption, nephrotic syndrome, liver disease, decreased muscle and bone mass, treatment with corticosteroids, antiepileptic drugs, and immunosuppressants.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
-
Analysed substances:
- 25(OH)D3 (calcifediol, calcidiol, or 25-hydroxy vitamin D3)
- 25(OH)D2 (25-hydroxy vitamin D2)
- 24,25(OH)2D3 (24,25-dihydroxy vitamin D3)
- Epi-25(OH)D3 an empirical form with reduced biological activity – it is measured, but due to lack of clinical interpretation is not presented on the result
- Type of test material: Dried blood spot, serum, plasma.
- Test category: DBS, Metabolomic
AA_DBS
Quantitative determination of amino acid profile in DBS by LC-MS/MS technique
-
Test objective: To determine the concentration of amino acids in the test material. This allows for an assessment of the body's amino acid supply in order to develop a diet that ensures adequate levels of amino acid intake over time:
- elimination diet
- vegan or vegeterian diet
- sports training
- amino acid supplementation (BCAA, Beta-alanine, methionine, tyrosine)
- increased demand (pregnancy, growth period, cancer, convalescence)
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
- Analysed substances: Alanine (Ala), Arginine (Arg), Asparagine (Asn), Aspartic acid (Asp), Beta-alanine (bAla), Citrulline (Cit), Glutamic acid (Glu), Glutamine (Gln), Glycine (Gly), Histidine (His), Homoarginine (hArg), Isoleucine (Ile), Leucine (Leu), Lysine (Lys), Methionine (Met), Ornithine (Orn,) Phenylalanine (Phe), Proline (Pro), Sarcosine (Sar), Serine (Ser), Threonine (Thr), Tryptophan (Trp), Tyrosine (Tyr), Valine (Val), Taurine (Tau), Gamma-aminobutyric acid (GABA).
- Type of test material: Dried blood spot, serum, plasma
- Test category: DBS, Metabolomics
AA_SP
Quantitative determination of amino acid profile in plasma/serum by LC-MS/MS technique
-
Test objective: To determine the concentration of amino acids in the test material. This allows for an assessment of the body's amino acid supply in order to develop a diet that ensures adequate levels of amino acid intake over time:
- elimination diet
- vegan or vegeterian diet
- sports training
- amino acid supplementation (BCAA, Beta-alanine, methionine, tyrosine)
- increased demand (pregnancy, growth period, cancer, convalescence)
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
- Analysed substances: Alanine (Ala), Arginine (Arg), Asparagine (Asn), Aspartic acid (Asp), Beta-alanine (bAla), Citrulline (Cit), Glutamic acid (Glu), Glutamine (Gln), Glycine (Gly), Histidine (His), Homoarginine (hArg), Isoleucine (Ile), Leucine (Leu), Lysine (Lys), Methionine (Met), Ornithine (Orn,) Phenylalanine (Phe), Proline (Pro), Sarcosine (Sar), Serine (Ser), Threonine (Thr), Tryptophan (Trp), Tyrosine (Tyr), Valine (Val), Taurine (Tau), Gamma-aminobutyric acid (GABA).
- Type of test material: Dried blood spot, serum, plasma
- Test category: DBS, Metabolomics
AC_DBS
Quantitative determination of acylcarnitine profile in DBS by the LC-MS/MS technique
-
Test objective: Detection and monitoring of inborn defects of metabolism, including disorders of beta-oxidation of fatty acids and organic acidaemias. This test may also be helpful:
- as a second-tier test in case of abnormal results of newborn screening
- in case of abnormal results of other tests, such as organic acid profile
- in case of the need to rule out metabolic disorders before initiating a ketogenic diet.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
-
Analysed substances:
acylcarnitines: C0, C2, C3, C3DC, C4, C4-OH, C4DC, C5:1, C5, C5-OH, C5DC, C6, C6DC, C8, C10:2, C10, C12, C14, C14:1, C16, C16-OH, C18 :1, C18, C18-OH - Type of test material: Dried blood spot
- Test category: DBS, Metabolomics
HCY_DBS
Quantitative determination of homocysteine in DBS by LC-MS/MS technique
- Test objective: Homocysteine determination is performed, among other things, as part of the diagnosis of cardiovascular diseases, as well as in the case of suspected vitamin B12 and folic acid deficiency.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
- Analysed substance: Homocysteine (Hcy)
- Type of test material: Dried blood spot, serum, plasma
- Test category: DBS, Metabolomics
HCY_SP
Quantitative determination of homocysteine in serum/plasma by LC-MS/MS technique
- Test objective: Homocysteine determination is performed, among other things, as part of the diagnosis of cardiovascular diseases, as well as in the case of suspected vitamin B12 and folic acid deficiency.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
- Analysed substance: Homocysteine (Hcy)
- Type of test material: Dried blood spot, serum, plasma
- Test category: DBS, Metabolomics
OMEGA_DBS
Quantitative determination of the fatty acid profile in DBS by GC-FID
- Test objective: Analysis of the fatty acid profile is an important element in the prevention and treatment of cardiovascular diseases, neurological disorders and diet-related diseases. The results of the study enable individual adjustment of the diet and/or supplementation, and thanks to the use of indicators (Omega-3 Index, Trans Fat Index, Omega-6: Omega-3 ratio, AA: EPA ratio) they show mutual proportions of fatty acids.
- Method of testing: Gas Chromatography (GC) with Flame Ionization Detection (FID)
-
Analysed substances:
- Omega-3 fatty acids: alfa-linolenic acid (ALA, 18:3n3), eicosapentaenoic acid (EPA, 20:5n3), docosapentaenoic acid-n3 (22:5n3), docosahexaenoic acid (DHA, 22:6n3)
- Omega-6 fatty acids: linoleic acid (18:2n6), gamma-linolenic acid (18:3n6), eicosadienoic acid (20:2n6), dihomo-gamma-linolenic acid (20:3n6), arachidonic acid (AA, 20:4n6 ), docosatetraenoic acid (22:4n6), docosapentaenoic acid-n6 (22:5n6)
- Cis-monounsaturated fatty acids: palmitoleic acid (16:1n7), oleic acid (18:1n9), eicosenoic acid (20:1n9), nervonic acid (24:1n9)
- Saturated fatty acids: myristic acid (14:0), palmitic acid (16:0), stearic acid (18:0), arachidic acid (20:0), bohenic acid (22:0), lignoceric acid (24:0 0)
- Trans fatty acids: trans-palmitooleic acid (16:1n7t), trans-oleic acid (18:1t), trans-linoleic acid (18:2n6t)
- Indicators: Omega-3 Index, Trans Fat Index, Omega-6 : Omega-3 Ratio and AA : EPA
- Type of test material: Dried blood spot
- Test category: DBS
AEQ10_DBS
Quantitative determination of vitamins A, E, and coenzyme Q10 in DBS by LC-MS/MS technique
-
Test objective: Detection of deficiencies or excesses of vitamins A and E and coenzyme Q10, helpful in diagnosis:
- visual disturbances, skin lesions, immune disorders (vitamin A)
- habitual miscarriages, anaemia, muscular dystrophies (vitamin E)
- impaired cell metabolism and antioxidant capacity (coenzyme Q10)
- Method of testing: High performance liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS)
- Analysed substances: Retinol (vitamin A), Tocopherol (vitamin E), Ubiquinone (coenzyme Q10)
- Type of test material: Dried blood spot
- Test category: DBS
BORRELIA_DBS
Quantitative determination of antibodies against Borrelia spirochetes in the IgM and IgG class in DBS by ELISA
- Test objective: Clinical diagnosis of Lyme disease by determination of Borrelia spirochete-specific antibodies in the IgM and IgG classes.
- Method of testing: Enzyme-linked immunosorbent assay (ELISA), EUROIMMUN anti-Borrelia ELISA (IgM) and anti-Borrelia ELISA (IgG) tests.
- Analysed substances: Antibodies against Borrelia burgdorferi, Borrelia afzelii and Borrelia garinii in IgM and IgG classes.
- Type of test material: Dried blood spot
- Test category: DBS
TSH_DBS
Quantitative determination of thyrotropin (TSH) in DBS by CLIA technique
- Test objective: Detecting and monitoring the course of treatment of thyroid disorders.
- Method of testing: Chemiluminescence immunoassay (CLIA), LIAISON TSH test by DiaSorin.
- Analysed substances: Thyroid Stimulating Hormone (TSH)
- Type of test material: Dried blood spot
- Test category: DBS, Endocrinology
fT4_DBS
Quantitative determination of free thyroxine (fT4) in DBS by CLIA technique
- Test objective: Diagnosis of hypothyroidism and hyperthyroidism.
- Method of testing: Chemiluminescence immunoassay (CLIA), LIAISON FT4 test by DiaSorin.
- Analysed substances: Free thyroxine (fT4)
- Type of test material: Dried blood spot
- Test category: DBS, Endocrinology
PAS_DBS
Semi-quantitative determination of psychoactive substances in DBS by LC-MS/MS technique
-
Test objective: Detection and semi-quantitative (on a +/++/+++ scale) determination of psychoactive substances from:
- intake of narcotic drugs/psychotropic substances
- intake of drugs/prescriptions containing the substances listed below.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
- Analysed substances: 6-Acetylmorphine, 7-Aminoflunitrazepam, 7-Aminoclonazepam, Alprazolam, Amphetamine, Benzoylecgonine, Clonazepam, Cocaine, Codeine, Diazepam, Fentanyl, Flunitrazepam, Hydroxyzine, Lorazepam, MDA, MDEA, MDMA, Mephedrone (4-MMC), Methamphetamine, Methadone, Morphine, Nordiazepam, Oxazepam, Tramadol, Zolpidem
- Type of test material: Dried blood spot
- Test category: DBS, Toxicology
THC_DBS
Quantitative determination of tetrahydrocannabinol (THC) in DBS by LC-MS/MS technique
- Test objective: To detect the presence and determine the concentration of THC and its metabolite THC-COOH resulting from long-term systematic use of cannabis products or exposure of the body to THC. The test is for informational purposes only and cannot be used as evidence in criminal proceedings.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
- Analysed substances: THC (Δ9-tetrahydrocannabinol), THC-COOH (11-nor-9-carboxy- Δ9-tetrahydrocannabinol)
- Type of test material: dried blood spot
- Test category: DBS, Toxicology
CBD_DBS
Quantitative determination of CBD, THC, and their metabolites in DBS by LC-MS/MS technique
- Test objective: Evaluation of the effectiveness of the consumed hemp preparations (dried flowers, oils, extracts, crystals, pastes) and optimization of the applied dose in the course of therapeutic marijuana treatment. The test is for informational purposes only and cannot serve as evidence in criminal cases.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
-
Analysed substances:
- CBD (cannabidiol)
- CBD-OH (7-hydroxy-cannabidiol)
- CBD-COOH (7-carboxy-cannabidiol)
- THC (Δ9-tetrahydrocannabinol)
- THC-OH (11-hydroxy-Δ9-tetrahydrocannabinol)
- THC-COOH (11-nor-9-carboxy-Δ9-tetrahydrocannabinol)
- Type of test material: Dried blood spot
- Test category: DBS, toxicology
DRUID_BEFU
Quantitative determination of psychoactive substances in whole blood/aqueous humor/urine by LC-MS/MS technique
- Test objective: Quantitative determination of psychoactive substances resulting from the ingestion of narcotic drugs/ psychotropic substances/ medications, performed for the purpose of providing expert opinion in the field of forensic toxicology.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
- Analysed substances: Oxazepam, Benzoylecgonine, Amphetamine, Methamphetamine, MDA, MDMA, MDEA, Diazepam, Zolpidem, Nordiazepam, Morphine, Alprazolam, 7-Aminoflunitrazepam, 7-Aminoclonazepam, Flunitrazepam, Lorazepam, Codeine, Cocaine, Methadone, Clonazepam, 6-Acetylmorphine, Tramadol, THC, THC-OH, THC-COOH, CBD, Fentanyl, Hydroxyzine, 3-CMC, 4-CMC, 3-MMC, 4-MMC.
- Type of test material: Whole blood, aqueous humor, urine
- Test category: Toxicology
GHB_BEFU
Quantitative determination of γ-hydroxybutyric acid in whole blood/aqueous humor/urine by LC-MS/MS technique
- Test objective: Quantitative determination of γ-hydroxybutyric acid, commonly known as date-rape drug, for the needs of justice and law enforcement agencies.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
- Analysed substances: γ-hydroxybutyric acid (hydroxybutyric acid).
- Type of test material: Whole blood, vitrous fluid, urine.
- Test category: Toxicology
SCREEN_BEFU
Qualitative testing for the presence of psychoactive substances, drugs, and their metabolites in whole blood/aqueous humor/urine by LC-MS/MS technique
- Test objective: Detection of psychoactive substances resulting from the ingestion of narcotics, psychotropic substances, drugs, and ‘designer drugs’ (psychoactive substances not listed as controlled substances under the provisions of the Act on Counteracting Drug Addiction) for the purposes of providing expert opinions in the field of forensic toxicology.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
- Analysed substances: 1-OH Midazolam, 1,2-DEP, 10-OH-Carbamazepine, 1P LSD, 2-EAPB, 2-MAPB, 3-FEA, 3-FPD, 3-FPH, 3,4-DMMC, 4-Cl-Izobytyrylofentanyl, 4-Cl-N,N-DMC, 4-EEC, 4-FEC, 4-MEAP, 4-MeO PCP, 4-MeO-Butyrylfentanyl 1, 4-MeO-PV8, 4-MeO-PV9, 4-methyl-NN-DMC, 4-MPD, 4-OH-MIPT, 4F-EPH, 4F-MPH, 4F-PV9, 4F-PVP, 5-BPDi, 5-DBFPV, 5-EAPB, 5-F-AKB48, 5F-ADB, 5F-ADB Metabolite 7, 5F-AMB, 5F-MDMB-PICA, 5F-MDMB-PICA Metabolite, 6-AM, 6-MAC, 7-Aminoclonazepam, 7-Aminoflunitrazepam, a-Ethylamino, pentiophenone, a-PHP, a-Propylamino, pentiophenone, a-PVP, AB-FUBINACA, AB-PINACA, Acetylfentanyl, Acetylnorfentanyl, Acrylfentanyl, Adinazolam, Alprazolam, Amisulpride, Amitriptyline, Amphetamine, Aripiprazole, Atropine, BB-22, BEC, Bentazepam, BK-2C-B, Brivaracetam, Bromazepam, Buphedrone, Buprenorfina, Bupropion, Butyrylfentanyl, BZP, Carbamazepine, Carbamazepine-diol, Carbamazepine-Epoxide, CBC (4-CBC), CEC (4-CEC), Chlordiazepoxide, Chlorpromazine, Chlorprothixene, Citalopram, Cl-PVP, Clobazam, Clomipramine, Clonazepam, Clozapine, CMC, CMC met. OH 2, CMC met.OH 1, Cocaine, Codeine, Cyklopropylofentanyl, Dehydroaripiprazole, Dekstrometorfan, Demoxepam, Deschloroetizolam, Desipramine, Desmethylclobazam, Desmethylfluoxetine, Desmethylmirtazapine, Desmethylsertraline, Despropionyl p-f-fentanyl, Diazepam, Dibutylone, Diclazepam, Dihydro-Bupropion, Dimethylone, DMAA, Dosulepin, Doxepin, Duloxetine, EG-018, EPH (Ethylphenidate), Ephedrine, Estazolam, Etizolam, Eutylon, Felbamate, Fentanyl, Flubromazolam, Flunitrazepam, Fluoxetine, Flupentixol, Fluphenazine, Flurazepam, Fluvoxamine, FMA, FuF, Gabapentin, GVS-111, Haloperidol, HDEP-28, Heroin, HEX-EN, Hydroksyzyna, Hydroxybupropion, Imipramine, iPPH or PPH, iPPH or PPH, Ketamine, Ketoprofen, Klonazolam, Lacosamide, Lamotrigine, Lavetriacetam, Levomepromazine, Lorazepam, Lormetazepam, Maprotilina, MBDB, MD-PHP, MDA, MDAI, MDEA, MDMA, MDMB CHMICA, MDMC (Methylone), MEAI, MEC (metyletkatynon), Meclonazepam, Medazepam, Melperone, Mescaline, Methadone, Methamphetamine, Methcathinone, Mianserine, Midazolam, Milnacipran, Mirtazapine, MMB CHMICA, MMB FUBINACA, MMC, Moclobemide, Morphine, MPBP, MXE, N-butylhexedrone, N-ethylopentylone, N-etyloheptedron, Nifoxipam, Nimetazepam, Nitrazepam, NM-2201, NM-2AI, Norclomipramine, Norclozapine, Nordiazepam, Nordosulepin, Nordoxepin, Norfentanyl, Normaprotiline, Norquetiapine, Nortriptyline, NSI-189, O-desmethylvenlafaxine, O-F-Fentanyl, Ocfentanil, Olanzapine, Opipramol, Oxazepam, Oxcarbazepine, Oxycodone, p-FBF, Paliperidone, Paroxetine, PB-22, PEMA, Pentedron, Perazine, Phenylpiracetam, Phenytoin, PIHP, Pipamperone, Prazepam, Primidone, Promazine, Promethazine, Prothipendyl, Protriptyline, PV8, PVT, Pyrazolam, Quetiapine, Reboxetine, Retigabin, Risperidone, Ritalinic acid, Rufinamide, Scopolamine, Sertindole, Sertraline, SGT 151, Stripentol, STS-135, Sulpiride, Temazepam, Tetrazepam, TH-PVP, Thioridazine, Tiagabine, Tramadol, Tranylcypromine, Trazodone, Triazolam, Trimipramine, U-47700, UR-144, Valerylfentanyl, Venlafaxine, W-15 (fentanyle), W-18 (fentanyle), Ziprasidone, Zolpidem, Zopiclone, Zotepine, Zuclopenthixol, Mexedrone, Noroxymorphone, Noroxycodone, Oxymorphone, Dehydronorketamine, MDMB-4en-PINACA, IS Morfina, Claritromycin, Etazen, Baclofen, ADB BUTINACA, Kleferein, LSD, 5F PB 22, MAB CHMINACA, Losartan, Bisoprolol, Amlodypina, 2FDCK, Ceteryzyna, Flubromazepam, Phenazepam, RCS-8, Norketamine, Desalkylflurazepam, IS Hydroksyzyna, Allobarbital, Amobarbital, Ethosuximide, Pentobarbital, Phenobarbital, Secobarbital, Sultiame, THC, THC-COOH, THC-OH, Topiramate, Valproic acid, Zonisamide, CBD, Ibuprofen, Hydrochlorotiazyd, Butabarbital, Tiopental
- Type of test material: Whole blood, aqueous humor, urine
- Test category: Toxicology
AED_SP
Quantification of antiepileptic drugs in plasma/serum by LC-MS/MS technique
- Test objective: Monitoring of drug therapy during epilepsy treatment. The test is designed to determine the individual response of the body to the applied treatment by determining the active concentration of antiepileptic drugs in the blood. It enables adjustment of the necessary dose to achieve a therapeutic effect and reduces the likelihood of toxicity incidents from the drugs used.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
- Analysed substances: Briwaracetam, Carbamazepine, Carbamazepine Epoxide, Ethosuximide, Felbamate, Gabapentin, Lacosamide, Lamotrigine, Levetiracetam, Oxcarbazepine, 10-Hydroxycarbazepine, Perampanel, Phenobarbital, Primidone, Phenytoin, Pregabalin, Rufinamide, Stiripentol, Sultiam, Tiagabine, Topiramate, Valproic acid, Vigabatrin, Zonisamide, as well as Clobazam, Norclobazam, Clonazepam, Diazepam, and Nordiazepam.
- Type of test material: Serum, plasma.
- Test category: Therapeutic drug monitoring
OA_U
Qualitative determination of organic acid profile in urine by GC-MS technique
- Test objective: Analysis of the organic acid profile (OAP) that enables the identification of over 40 inherited metabolic disorders and other diseases by detecting specific pathologic metabolites present in urine.
- Method of testing: Gas chromatography coupled with mass spectrometry (GC/MS)
-
Analysed substances:
The analysis is performed in scanning mode, where a full mass spectrum is collected within a specific range. Therefore, all substances present in the urine sample, both physiological and pathological, are measured. Based on the analysis of the obtained chromatogram, by comparing the mass spectra with a library and considering available clinical data, relative concentrations of several hundred organic compounds are evaluated, including:- glycolysis metabolites: lactic acid, pyruvic acid
- citric acid cycle metabolites: citric acid, 2-ketoglutaric acid, succinic acid, malic acid, fumaric acid
- beta-oxidation metabolites (ketones and fatty acids): 3-hydroxybutyric acid, acetoacetic acid, adipic acid, suberic acid, sebacic acid, ethylmalonic acid, methylsuccinic acid
- protein metabolism products: 3-hydroxyisovaleric acid, 2-oxoisovaleric acid, 3-methyl-2-oxovaleric acid, 2-hydroxyisocaproic acid, 2-oxoisocaproic acid, 2-oxo-4-methylpentanoic acid, phenylpyruvic acid, phenylacetic acid, homogentisic acid, 4-hydroxyphenylpyruvic acid, N-acetylaspartic acid, malonic acid, methylmalonic acid, 4-hydroxybutyric acid
- neurotransmitter metabolites: homovanillic acid, vanillylmandelic acid, 5-hydroxyindoleacetic acid, kynurenic acid
- detoxification metabolites: pyroglutamic acid, benzoic acid, orotic acid, 2-hydroxyhippuric acid
- bacterial metabolites: hippuric acid, p-hydroxyphenylacetic acid, 4-hydroxybenzoic acid, 4-hydroxyhippuric acid, cresol
- oxalate metabolites: glyceric acid, glycolic acid, oxalic acid
- pyrimidine metabolites: uracil, dihydrouracil, thymine, dihydrothymine
- Type of test material: Urine (single urine sample)
- Test category: Metabolomics
SAICAR_U
Qualitative determination of SAICAR in urine by LC-MS/MS technique
- Test objective: To diagnose adenylyl succinate lyase (ADSL) deficiency and AICAR transformase and IMP cyclohydrolase (ATIC) deficiency.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
- Analysed substances: succinylaminoimidazolecarboxamide riboside (SAICAR) and succinyladenosine (S-Ado)
- Type of test material: Urine (single urine sample)
- Test category: Metabolomics
P/P_U
Quantitative determination of purine and pyrimidine bases profile in urine by the LC-MS/MS technique
-
Test objective: Analysis of the purine and pyrimidine bases (P/P) profile, which enables the detection of approximately 30 enzymatic defects in their metabolism. These include:
-
pyrimidine metabolism defects:
- dihydropyrimidine dehydrogenase deficiency (uracil-tyrosinuria) (DPD)
- thymidine phosphorylase deficiency (MNGIE)
-
purine metabolism defects:
- hypoxanthine-guanine phosphoribosyltransferase deficiency (complete HPRT; Lesch-Nyhan syndrome, LNS)
- hypoxanthine-guanine phosphoribosyltransferase deficiency (partial HPRT; Kelley-Seegmiller syndrome, KSS)
- adenine phosphoribosyltransferase deficiency (APRT)
- purine nucleoside phosphorylase deficiency (PNP)
- molybdenum cofactor deficiency (MCF)
- xanthine oxidase deficiency (Type I xanthinuria, XDH)
- aldehyde oxidase and xanthine oxidase deficiency (Type II xanthinuria, XDH/AO)
- overactivity of phosphoribosylpyrophosphate synthetase I (PRPS I)
- familial juvenile hyperuricemic nephropathy (FJHN)
- other hyperuricosuria with/without hyperuricaemia
- other hypouricaemia with/without hypouricosuria
-
pyrimidine metabolism defects:
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
- Analysed substances: Uric acid, Uracil, Thymine, Thymidine, Adenine, Deoxyadenosine, Inosine, Guanosine, Deoxyguanosine, Xanthine, Hypoxanthine, Xanthosine, Guanine, Uridine, Pseudouridine, Cytidine, Cytosine.
- Type of test material: Urine (single urine sample)
- Test category: Metabolomics
MET_P
Quantitative determination of free methoxy-catecholamines in plasma by LC-MS/MS technique
- Test objective: Diagnosis of tumours that secrete catecholamines - pheochromocytoma and other neuroendocrine tumours, useful in the diagnosis of arterial hypertension.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
- Analysed substances: Metanephrine (MT), Normetanephrine (NMT), 3-Methoxytyramine (3-MT)
- Type of test material: Plasma
- Test category: Endocrinology
TRP_SP
Quantitative determination of tryptophan metabolite profile in plasma/serum by LC-MS/MS technique
- Test objective: Scientific research on tryptophan metabolites.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
- Analysed substances: 3-hydroxykynurenine (3HK), kynurenine (KYN), kynurenic acid (KYNA), quinolinic acid (QA), xanthurenic acid (XANA), picolinic acid (PA), 3-hydroxyanthranilic acid (3-HA)
- Type of test material: Serum, plasma
- Test category: Metabolomics, Scientific research
ARG_SP
Quantitative determination of arginine metabolites profile in plasma/serum by LC-MS/MS technique
- Test objective: Scientific research on arginine metabolites.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS
- Analysed substances: Arginine (Arg), citrulline (Cit), ornithine (Orn), methylarginine (MethylArg), dimethylamine, asymmetric dimethylarginine (ADMA), symmetric dimethylarginine (SDMA)
- Type of test material: Serum, plasma
- Test category: Metabolomics, Scientific research
GSH_DBS
Quantitative determination of glutathione index in DBS by LC-MS/MS technique
- Test objective: Determination of glutathione index (GSH/GSSG ratio) is performed to assess the redox state ofthe cell and the body's ability to counteract oxidative stress.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS
- Analysed substances: Glutathione (GSH), Glutathione disulfide (GSSG).
- Type of test material: Dry blood spot, Whole blood drawn on EDTA
- Test category: DBS, Metabolomics
GSH_WB
Quantitative determination of glutathione index in whole blood (EDTA) by LC-MS/MS technique
- Test objective: Determination of glutathione index (GSH/GSSG ratio) is performed to assess the redox state ofthe cell and the body's ability to counteract oxidative stress.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS
- Analysed substances: Glutathione (GSH), Glutathione disulfide (GSSG).
- Type of test material: Dry blood spot, Whole blood drawn on EDTA
- Test category: DBS, Metabolomics
3-OMD_DBS
Quantitative determination of 3-O-methyldopa in DBS by LC-MS/MS technique
- Test objective: The 3-O-methyldopa determination is used as a screening test for L-amino acid decarboxylasedeficiency (AADC deficiency, ORPHA:35708).
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS
- Analysed substances: 3-O-methyldopa (3-OMD)
- Type of test material: Dry blood spot
- Test category: DBS, Metabolomics
CORT_SAL
Quantitative determination of cortisol and cortisone in saliva by LC-MS/MS technique. Used in diagnosis of Cushing’s syndrome.
- Test objective: Determination of cortisol levels is used to distinguish primary and secondary adrenal insufficiency, as well as in the differential diagnosis of Cushing's syndrome and the monitoring of its treatment.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS)
- Analysed substances: Cortisol, cortisone
- Type of test material: Saliva
- Test category: Endocrinology
CBD_B
Quantitative determination of cannabinoid profile in whole blood by LC-MS/MS technique
- Test objective: Monitoring of therapy with preparations derived from cannabis.
- Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
-
Analysed substances:
- CBD (cannabidiol)
- CBD-OH (7-hydroxy-cannabidiol)
- CBD-COOH (7-carboxy-cannabidiol)
- CBDA (cannabidiolic acid)
- CBG (cannabigerol)
- CBN (cannabinol)
- CBC (cannabichromene)
- THC (Δ9-tetrahydrocannabinol)
- THC-OH (11-hydroxy-Δ9-tetrahydrocannabinol)
- THC-COOH (11-nor-9-carboxy-Δ9-tetrahydrocannabinol)
- THCA (tetrahydrocannabinolic acid)
- Type of test material: Whole blood
- Test category: Scientific research
ELEMENTS_HN
Quantitative determination of elements in hair/nails by X-ray fluorescence (XRF) technique
- Test objective: Determination of elements in materials of biological origin.
- Method of testing: Energy Dispersive X-Ray Fluorescence (EDXRF).
- Analysed substances: Calcium (Ca), Copper (Cu), Iron (Fe), Potassium (K), Zinc (Zn), Sulfur (S), Selenium (Se), Strontium (Sr), Lead (Pb), Silicon (Si), and other elements present at very high concentrations in the body as a result of long-term exposure.
- Type of test material: Hair, nails
- Test category: Scientific research
ALC_B
NMR quantification of ethyl alcohol in whole blood
- Test objective: Determination of ethyl alcohol in blood
- Method of testing: Nuclear Magnetic Resonance (NMR)
- Analysed substances: Ethyl alcohol (ethanol)
- Type of test material: Whole blood
- Test category: Scientific research