Medical Advertisement Ministry of Health Appl.No. CB62039 – valid upto 12.06.2019



Specialties and Reporting

Specialties and Reporting

All Genetic Disorders, Whole Exome Sequencing

- Sequencing and MLPA (deletions/duplications) of individual genes

- Genetic panels where  multiple genes associated with a disease/syndrome are sequenced

- Whole Exome Sequencing: This method is very useful to identify mutations in single genes that cause rare genetic diseases. The coding regions of all genes are covered instead of just focusing on one or a few genes. Approximately 85% of known pathogenic mutations are found in these regions of the genes.

- Microarray Diagnostics :  Genomic imbalance and DNA copy number variation are major causes of developmental disorders. In this test the patient’s entire genome is compared to the genomes of healthy control subjects.

- Karyotyping (Chromosome)

Genetic Testing and Panels

Genetic testing is most often done to confirm the diagnosis of a syndrome or disease, which is known to be caused by a genetic alteration.

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Whole Exome Sequencing (WES)

Exome analysis is based on next-generation sequencing (NGS), and is used to identify variants in single genes that cause rare genetic diseases.

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Autoimmune Disorders, Allergies

- Testing for autoimmune disorders

- Allergy testing panels (food, inhalants, atopy) and individual allergy tests

 

Autoimmune Disorders

We offer extensive autoimmune disorder testing by IFT (immunofluorescence testing) or panels by blot. Our pathologists are very experienced in the field of autoimmunity.

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Allergies (IgE-mediated, type I)

Freiburg Medical Laboratory offers detailed allergen-based tests for autoimmune disorders and all-inclusive panels for suspected allergies.

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Drug- and Medication Monitoring

- Therapy monitoring for prescribed medication

- Drug testing in urine and blood

Drug monitoring

Medication monitoring

Endocrinology

- Hormone testing (e.g. thyroid, pituitary, pancreatic, adrenal, gonadal)

Environmental Medicine: Vitamins, Minerals and Metals

- Mineral and Metal analysis in hair and blood

- Heavy metal analysis in urine

- Blood and urine analysis for exposure to environment and occupational toxins

Vitamins, Minerals and Metals

Good overview of one’s vitamin status, levels of minerals, trace elements and metals.

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Fertility, Semen Analysis, Ovarian Function

- Hormones, chromosome analysis, immune status, genetic testing.

Fertility testing

Ovarian function testing

Semen analysis

Food Intolerance

Food Intolerance (Delayed IgG Food Allergy, type III)

There are many reasons why certain foods might not be well tolerated, causing symptoms such as bloating, diarrhea, headaches, or skin problems. One possible cause is an IgG food allergy (type III). These delayed allergies can cause low-grade inflammatory conditions, which in turn are thought to be possible triggers of different chronic diseases.

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General Check-Up - Hematology, Coagulation, Immunology, Biochemistry

- Comprehensive testing for general health

- Specific testing for any health issues

Coagulation

Hemoglobinopathies and Anemia

- Alpha and beta thalassemia testing

- Hemoglobin studies for any other abnormalities

- Anemia testing

Thalassemia

Thalassemias are classified according to clinical symptoms and to distinct hemoglobin defects.

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Sickle Cell Disease

Sickle cell disease is observed frequently in the African/Asian population as well as in the Mediterranean/ Middle Eastern population. Here, a common problem is a combination of sickle cell and beta thalassemia genes.

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Hemoglobinopathies

The hemoglobin electrophoresis / HPLC separates the following hemoglobin sub-units: HbA1, HbA2, HbF (fetal Hb), HbS (sickle cell Hb) and others.

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Infectious Disorders, Microbiology, Molecular Virology

- Antibody testing (immunoassays) and direct testing of infectious pathogens (PCR)

- Bacteriological analyses including resistance testing (antibiotics)

- In-house HPV and HCV molecular testing

- Respiratory and gastrointestinal panels

Human Papillomavirus (HPV)

There are various types of the human Papillomavirus and most types are transmitted sexually. Many of these do not show symptoms, do not cause disease and disappear after 1-2 years. Of the types of HPV, some carry a high oncogenic risk, others a low oncogenic risk. Some of the high-risk HPV types (HR-HPV) may progress to pre-cancerous lesions and invasive cancer.

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Respiratory and Gastrointestinal Panels

Possibility to detect multiple infectious agents in one assay using only one sample. Multiplex technology allows a large number of tests to be conducted simultaneously and analyzed quickly, cost-effectively and accurately.

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Hepatitis C - HIV

Influenza Testing

Inherited Metabolic Disorders

- Newborn screening using filter cards (36-72 hours after birth)

- Metabolic screening for babies older than 1 month also using filter cards

- Amino acid (blood, urine) and organic acid (urine) screening

- Lysosomal storage disease testing

 

Amino Acids in Blood

Newborn Screening - Abnormal Hb

Newborn Screening - low G6PDH

Newborn Screening - normal

Mitochondrial Medicine

- Initial testing in blood and urine when suspecting a mitochondrial dysfuntion

- Genetic testing to confirm mitochondrial diseases (mtDNA and nuclear DNA)

We offer many different panels covering together 396 genes associated with mitochondrial disorders.

 

For additional information, please see some of the scientific publications by Dr. Michaela Jaksch below.

  • Bauer MF, Gempel K, Hofmann S, Jaksch M, Philbrook C, Gerbitz KD. Mitochondrial disorders. A diagnostic challenge in clinical chemistry. Clin Chem Lab Med. 1999 Sep;37(9):855-76.

 

  • Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, Sperl W. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet. 2007 Mar;80(3):478-84. Epub 2007 Jan 10.

 

  • Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Hum Mol Genet. 2003 Oct 15;12(20):2693-702. Epub 2003 Aug 19.

 

  • Müller-Höcker J, Muntau A, Schäfer S, Jaksch M, Staudt F, Pongratz D, Taanman JW. Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. Hum Pathol. 2002 Feb;33(2):247-53.

 

  • Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M. Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. J Inherit Metab Dis. 2005;28(4):479-92.

 

  • Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M. Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? J Inherit Metab Dis. 2004;27(1):67-79.

 

  • Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, Jaksch M. A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. J Med Genet. 2003 Oct;40(10):752-7.

 

  • Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmueller H. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet. 2001 Dec 15;10(26):3025-35.

 

  • Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. J Med Genet. 2001 Oct;38(10):665-73.

 

  • Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. J Med Genet. 2000 Sep;37(9):669-73.

 

  • Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Lill R, Prokisch H, Gerbitz KD, Mewes HW, Meitinger T. MITOP: database for mitochondria-related proteins, genes and diseases. Nucleic Acids Res. 1999 Jan 1;27(1):153-5.

 

  • Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet. 1998 Nov;35(11):895-900.

 

  • Gerbitz KD, van den Ouweland JM, Maassen JA, Jaksch M. Mitochondrial diabetes mellitus: a review. Biochim Biophys Acta. 1995 May 24;1271(1):253-60.

 

  • Gerbitz KD, Jaksch M. Mitochondrial DNA, aging and sudden infant death syndrome. Eur J Clin Chem Clin Biochem. 1994 Jun;32(6):487-8. 
Non Invasive Prenatal Testing (NIPT)

 

- neoBona test (NIPT) starting from gestational week 10

- First Trimester risk calculation for trisomies 21, 13, 18 (gestational weeks 11-14)

- Second Trimester risk calculation (Triple Test, Quadruple Test) for trisomies 21, 13, 18 and NTD (gestational weeks 14-18)

 

NIPT – neoBona Test

Non-invasive prenatal testing (NIPT) analyzes cell-free DNA from the fetus circulating in the pregnant mother’s blood. This is a prenatal screening test for Down syndrome (trisomy 21) and two other common fetal chromosomal abnormalities (trisomies 18 and 13). Also, testing for X and Y chromosomes is possible upon request.

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First & Second Trimester Risk Calculations

Freiburg Medical Laboratory offers the First Trimester Screening (FTS) as a non-invasive pregnancy evaluation, performed at 11+0 – 13+6 week. The screening involves a combination of ultrasonographic measurement of nuchal translucency (NT) and biochemical analysis of maternal serum levels of two pregnancy-related proteins: free beta-hCG (beta-human chorionic gonadotropin) and PAPP-A (Pregnancy Associated Plasma Protein-A). Please note that numerous studies have revealed that the first trimester screening is far more sensitive for detecting Down syndrome than the second trimester screening (Triple test).

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Nutritional- and Anti-Aging Medicine

- Genetic pre-disposition to obesity and lifestyle diseases

Nutriincode genetics

Nutriincode results

Obesity

Especially here in the UAE, lifestyle and nutrition are major factors for obesity and diabetes. Malnutrition, despite overweight, might play an underestimated role in subfertility. There is a known relationship between body weight and reproductive hormones. For example, obesity is associated with increased sperm DNA damage.

 

Please contact us for a health check up and/or a consultation.

 

For a power point presentation about obesity and other lifestyle factors and their influence on fertility, please click below.

Increased Health Risk Factors in the UAE - Assessment in the Medical Laboratory

Pre-Marital Check-Up, Paternity Testing

- General blood tests (e.g. blood group, hemoglobin studies)

- STD and infectious disease testing (see STD panels)

- Hormone testing, semen analysis, ovarian function (see Fertility)

- Chromosome analysis  (see Fertility)

- Paternity testing

 

 

Pre-Marital Testing

Pre-marital screening is a group of tests recommended for couples that are going to get married, to prevent as much as possible transmitting disease to their offspring.

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Paternity Test

Risk Profiles Cardiovascular, Diabetes, Metabolic Assessment

- Comprehensive testing for cardiovascular risk

Diabetes check-up

Metabolic Assessment

Cardiac Risk Profile

Diabetes Profile

Lipoprint Profile

STD Panel

- STD panel covering 10 pathogens

STD Panel

There are various types of the human Papillomavirus and most types are transmitted sexually. Many of these do not show symptoms, do not cause disease and disappear after 1-2 years. Of the types of HPV, some carry a high oncogenic risk, others a low oncogenic risk. Some of the high-risk HPV types (HR-HPV) may progress to pre-cancerous lesions and invasive cancer.

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UAE Risk Profile

- Specific testing for UAE nationals and residents based on the diet and lifestyle choices in the region.

- Frequent Health Risk Factors in the UAE include:

Vitamin D Deficiency

Metabolic Syndrome

Obesity

Insulin Resistance and Diabetes

Anemia

Autoimmune Disorders

Consanguinity and Recessive Disorders

Hemoglobinopathies

HPV and other STDs

UAE Risk Profile


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according to ISO 15189

Lab hours

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Key Technical Personnel