Lab Tests - By Category

·         Ethylglucuronide (ETG)

This is a marker for testing regular consumption of alcohol. Alcoholism is a social problem and has a substantial medical impact because of toxic side effects on many organs. Definite markers for alcohol consumption/abuse have to be critically evaluated. Ethylalcohol is catabolized by the liver and the direct detection of ethanol (blood alcohol level) in blood is limited after consumption to a few hours (biotransformation approx. 0.1-0.3 per mill per hour). Other markers are detectable in weeks or months. This diagnostic gap is partially covered by ethylglucuronide. It appears exclusively after consumption of alcohol.

Depending on the quantity of consumed alcohol the ETG in serum is traceable up to 36 hours. The extent of the ETG level permits to predict the maximum blood alcohol level. More than 5 mg/L ETG points to blood alcohol level to at least 1.6 per mill. Ethylglucuronide is detectable in urine up to 4 days after consumption of alcohol.

·         Caffeine

Together with theophylline and theobromine, caffeine belongs to methylxanthines. They show pharmacodynamic effects primarily on CNS (adenosine receptor antagonism), on smooth muscles (bronchodilatation, contraction of the meningeal vessels), on skeletal muscles (intensified contractions, e.g. the diaphragmatic muscles), on heart (positive chronotropic and ionotropic effect; high doses result in tachycardia and increased blood pressure) and on kidney (weak diuresis).

·         Cotinine (Nicotine)

Nicotine accumulates in the blood system by inhalative smoking. Cotinine (Pyrridinolon) is formed by biotransformation in the liver and is secreted via kidney. The half-life is 10-16 hours, thus in normal smokers (approx. 10 cigarettes per day) cotinine is still detectable 3 days after stopping smoking. The metabolite is also detectable in passive smokers. Nicotine substitutes (e.g. nicotine chewing gums) are also detected by the test.

·         Heavy Metal Panel in Urine

Heavy metals toxicity caused by increasing levels of pollution and use of chemicals in industry is a growing threat to our health and development. High levels of toxic metals deposited in body tissues and subsequently in the brain, may cause significant develop-mental and neurological damage. Urine toxic and essential elements analysis is an invaluable tool for the assessment of retention of toxic metals in the body and the status of essential nutrient elements. Toxic metals do not have any useful physiological function, adversely affect almost every organ system, and disrupt the homeostasis of nutrient elements.

Analysis of the levels of toxic metals in urine are available as multielement analysis, especially as heavy metal panel. Screened will be for Aluminium, Arsenic, Boron, Bismuth, Cadmium, Cobald, Copper, Gold, Indium, Lead, Manganese, Mercury, Molybdenum, Nickel, Palladium, Platinum, Silver, Thallium, Tin, Uranium and Zinc. Common indications are before and after administration of a pharmaceutical metal detoxification agent (such as DMPS), as an objective way to evaluate the accumulation of toxic metals.

·  Human epididymis protein 4 (HE4), a new marker for ovarian carcinoma, is the product of the WFDC2 (HE4) gene that is overexpressed in patients with ovarian carcinoma. Several publications have demonstrated HE4's su-periority over CA-125 as an OC biomarker. The combination of CA-125 with HE4 achieved the highest sensitivity compared with all other single markers or dual-marker combinations. HE4 has sensitivity similar to CA-125 in detecting late-stage disease and greater specificity than CA-125 in detecting early ovarian cancer. HE4 is differently expressed during the phases of the menstrual cycle in healthy young women. The menstrual cycle phase-dependent variability appears indicated in the interpretation of the results.

HE4 levels were elevated in both endometrial and ovarian malignancies, but not in endometriotic lesions. These results thus provide additional evidence for HE4's complementary association with CA-125 in the detection of OC. Elevated HE4 levels are associated with ovarian cancer but are not disease-specific and do not preclude the presence of cancer, nor are elevated results an absolute indication of malignancy. A change in HE4 level of ≥25% is considered significant. An increase of this magnitude suggests recurrence or disease progression, while a decrease

of this magnitude suggests therapeutic response.

 False positive results can be detected with ovarial cysts, adnexitis or benign tumors. Levels of HE4 within the reference range HE4 should not be used for monitoring patients with mucinous or germ cell ovarian cancer. Results should be interpreted in conjunction with other clinical and laboratory findings

·         JAK2 V617F mutation analysis

The JAK2 V617F mutation is a sensitive marker for polycythaemia vera (PV), essential thrombocythemia (ET) as well as idiopathic myelofibrosis (iMF) and therefore a diagnostic criterion for myeloproliferative diseases. The JAK2 mutation is a somatic and thus an acquired point mutation; it affects the Janus kinase 2, a cytoplasmic tyrosine kinase which is involved in the receptor-mediated transmission of intracellular signals of various growth factors and cytokines. The V617F mutation in exon 14 of the JAK2 gene leads to an exchange of the amino acid valine (V) by phenylalanine (F); an increase in kinase activity is the result. This constitutive activation finally leads to an increased division rate of the affected cells.

·         Squamous cell carcinoma antigen

SCC, expressed as SCC-A (antigen) from transformed squamous epithelium cells, is a valid tumormarker the monitoring of squamous cell carcinoma of the cervix (sensitivity >80%) and lung (sensitivity >70%), esophagus, anus and nose-throat neoplasia (besides CEA with a lower sensitivity). The SCC is not recommended as a screening for primary diagnosis. A negative result does not exclude a malignoma. Elevated levels can also be detected with benign diseases f.e. hepatobilial disturbances, kidney insufficiency or other gynecological disorders.

·         5-Hydroxyindolacetic acid in urine (HIAA)

5-HIAA is the main metabolite of serotonin, which is formed out of tryptophan. Serotonin is either stored in neurosecretoric vesicles or released into the blood circulation system. Most of the serotonin in plasma, is used by thrombocytes and biotransformed into 5-HIAA (elevated in carcinoid syndrome). Serotonin has a positive effect on GIT activity especially duodenum and jejunum. Severe diarrheas are observed in carcinoid syndrome. Further symptoms of the carcinoid syndrome are: flush, facial telangiectasis, abdominal convulsions, asthma-similar attacks and endocardial fibrosis of the right heart.

·         Melanoma-inhibiting activity (MIA)

Melanoma-inhibiting activity (MIA) is a 107 amino-acid protein secreted from melanoma cells and frequently detectable at high concentration in the serum of patients with advanced melanoma. Early studies suggested that MIA may be a useful serum tumor-marker for detection of recurrent or progressive disease. However, MIA has not been recognized as sensitive marker for relapse in patients clinically free of disease after treatment.

·         Chromogranin A (CGA)

 This is a 68 kDa calcium-binding glycoprotein which is produced in neuroendocrine cells (in normal as well as in tumor cells). An essential role for CGA was described in the differentiation of neuroendocrine tissues. Increased CGA concentrations in blood point to neuroendocrine tumors or metastases independent from their localization. High CGA levels in blood seem to reflect advanced disease stages. In different studies, a specificity and a sensitivity for CGA of 75-100% - depending on the disease - were described. Chromogranin A is considered as a more sensitive, but relatively nonspecific marker of neuroendocrine tissue. The chromogranin A concentration is usually detected in parallel with the excretion of the 5-hydroxy-indole acetic acid (degradation product of serotonin) in urine.

Next-generation sequencing allows the analysis of up to several million single DNA molecules in one sequencing run by "massive multiple parallel sequencing". Sequencing of single DNA molecules takes place either on PCR products (so-called amplicon libraries) or on specifically prepared DNA fragments (so-called enrichment libraries). On average, approx. 4-6 sequence variants (Small Nucleotide Variants (SNVs)) are detected per analyzed gene, the relevance of which must be assessed by the reporting scientist for the interpretation of findings. Access to public, commercial and inhouse databases and knowledgeable alert variant analysis classification and filtration are therefore crucial for high quality reporting. We offer NGS sequencing solutions from whole exome analysis through large and small panel analyses down to single gene and single nucleotide analysis. If analyses can be targeted or are technically not accessible by NGS technology we do as well offer genetic analyses including array CGH, sanger sequencing, CNV analysis based on MLPA Assays and Repeat analyses. 

      Disease types include

ü  Brain Malformations

ü  Cardiovascular Diseases

ü  Ciliopathies

ü  Connective Tissue Diseases

ü  Developmental and Growth Disorders

ü  Ear, Nose and Throat Diseases

ü  Endocrine Disorders

ü  Epilepsy and Migraine

ü  Eye Diseases

ü  Gastroenterological Diseases

ü  Hematologic Diseases

ü  Immunological Diseases

ü  Kidney Diseases

ü  Lipometabolic Disorders

ü  Metabolic Diseases

ü  Microcephaly and Macrocephaly

ü  Mitochondrial Diseases

ü  Multisystemic Malformation Syndromes

ü  Muscular Diseases

ü  Neurodegenerative Diseases

ü  Pulmonary and Respiratory Diseases

ü  Reproductive Disorders

ü  Skeletal and Bone Diseases

ü  Skin and Dental Diseases

ü  Tumor Syndromes

Phasellus in bibendum metus. Fusce vehicula neque quam, ac tincidunt erat facilisis id. Morbi nec nulla et felis pharetra imperdiet. Sed ac dignissim sem, nec pellentesque leo. Nulla et purus non arcu tincidunt ullamcorper nec vitae ex. Curabitur sit amet mollis nibh. Nam tortor dui, laoreet sed convallis nec, lobortis a elit.

Vestibulum aliquet erat laoreet, varius nisl eu, viverra ligula. Pellentesque habitant morbi tristique senectus et netus et malesuada fames ac turpis egestas. Vivamus cursus vitae nunc sed maximus. Praesent consequat dolor congue orci tincidunt fermentum. Sed iaculis semper consequat. Maecenas eget dolor egestas, eleifend leo eget, fermentum enim. Nam accumsan interdum metus id accumsan. Maecenas quis lobortis mauris, suscipit hendrerit velit. Vestibulum et dignissim ipsum. Proin tempor libero vitae lacinia aliquam. 

Fusce libero nulla, sodales vitae suscipit vitae, egestas vitae purus. Nullam ut imperdiet lacus, eget auctor metus. Nam sed dui ut quam fringilla lobortis. Nunc auctor maximus dui, ut placerat tellus pulvinar eget.

Donec commodo at ante eget ultrices. Quisque porttitor tincidunt semper. Ut porttitor maximus viverra. Praesent fringilla quam sagittis faucibus lobortis. Morbi non mi quis dui iaculis eleifend. Nunc aliquet tellus luctus, convallis odio eget, tristique lacus. In quis nibh eget elit pulvinar fringilla.