laboratory diagnostic - genetics mollecular biology - Haemochromatosis, HFE gene, p.His63Asp mutation, EDTA whole blood 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, Real-time PCR, ssso, todylaboratories®, bmn, code L16LD1690

laboratory diagnostic - genetics mollecular biology - SNP array - retard mental cu sau fara multiple dismorfii congenitale, EDTA whole blood 2x5ml and heparin whole blood 5ml at ambient temperatre. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, mollecular biology, ssso, todylaboratories®, bmn, code L16LD1715

laboratory diagnostic - genetics mollecular biology - Chromosomal rearrangement, characterisation FISH - postnatal, heparin whole blood 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, In Situ hybridisation on metaphases, ssso, todylaboratories®, bmn, code L16LD1704

laboratory diagnostic - genetics mollecular biology - Angelman/Prader-Willi Syndrome, uniparental disomy, mechanism identification, amniotic fluid - prenatal, amniotic fluid 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request,Microsatellites/Fluorescent sequence analysis (PCR), ssso, todylaboratories®, bmn, code L16LD1706

laboratory diagnostic - genetics mollecular biology - KRAS gene, mutation, paraffin-embedded tumor block or paraffin slides at ambient temperature,PCR, sequencing, ssso, todylaboratories®, bmn, code L16LD1700

laboratory diagnostic - genetics mollecular biology - Angelman/Prader-Willi Syndrome, SNRPN methylation, whole blood - postnatal, EDTA whole blood 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, Methyl-PCR bisulfite, ssso, todylaboratories®, bmn, code L16LD1708

laboratory diagnostic - genetics mollecular biology - Angelman/Prader-Willi Syndrome, microdeletion screening, mechanism identification, whole blood - postnatal, heparin whole blood 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, In Situ hybridisation on metaphases, ssso, todylaboratories®, bmn, code L16LD1710

laboratory diagnostic - genetics mollecular biology - Karyotype - skin biopsy - postnatal, skin biopsy, Cutaneous biopsy at ambient temperature, sterile container or culture medium, supplied upon request). It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request. Conventional cytogenetics: Culture + chromosome analysis, ssso, todylaboratories®, bmn, code L16LD1670

laboratory diagnostic - genetics mollecular biology - Uniparental disomy, UPD - prenatal, Cultivated amniotic fluid, cultivated trophoblasts at ambient temperature. Also, 5 ml of whole blood on EDTA from each parent (quote on request) is required to perform this test. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, Microsatellites (14, 15, 7, 11, 16, 20). Fluorescent sequence analysis (PCR), ssso, todylaboratories®, bmn, code L16LD1680

laboratory diagnostic - genetics mollecular biology - Karyotype trophoblast - prenatal, trophoblast, Trophoblast 10 - 20 mg at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request. Direct examination/culture + chromosome analysis, ssso, todylaboratories®, bmn, code L16LD1676

laboratory diagnostic - genetics mollecular biology - IL28B genotyping (Interleukin 28B) polymorfism rs12979860 - predictive response to antiviral therapy in Hepatitis C, EDTA whole blood 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, RT-PCR,ssso, todylaboratories®, bmn, code L16LD1697

laboratory diagnostic - genetics mollecular biology - Aneuploidies of chromosomes 13, 18, 21, X and Y - rapid interphase FISH, amniotic fluid 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request. In Situ hybridisation on non cultivated nuclei, ssso, todylaboratories®, bmn, code L16LD1663

laboratory diagnostic - genetics mollecular biology - Chromosomal rearrangement, characterisation FISH - prenatal, amniotic fluid/trophoblasts/foetal blood/tissue/IUFD). It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, In Situ hybridisation on non cultivated nuclei or on metaphases, ssso, todylaboratories®, bmn, code L16LD1703

laboratory diagnostic - genetics mollecular biology - BRCA1/BRCA2, breast cancer, EDTA whole blood 10ml, refrigerated. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, mollecular biology, ssso, todylaboratories®, bmn, code L16LD1669

laboratory diagnostic - genetics mollecular biology - Aneuploidies of chromosomes 13, 18, 21, X and Y - rapid diagnosis - QFPCR, fresh amniotic fluid (non haemorragic) 2ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, QF-PCR, ssso, todylaboratories®, bmn, code L16LD1662

laboratory diagnostic - genetics mollecular biology - Karyotype - prenatal, foetal blood, sHeparin foetal blood, sterile tube 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request. Conventional cytogenetics: Culture + chromosome analysis, ssso, todylaboratories®, bmn, code L16LD1673

laboratory diagnostic - genetics mollecular biology - SRY gene, Sex-determining Region Y, cultivated amniotic fluid, cultivated trophoblasts, at ambient temperature. Also 5 ml of whole blood on EDTA from each parent (quotation on request) are required to perform this test. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request,PCR, ssso, todylaboratories®, bmn, code L16LD1717

laboratory diagnostic - genetics mollecular biology - HER2 - invasive breast tumors, FISH, Tumour in paraffin block, cellular appositions at ambient temperature, Attach the histology report, FISH, ssso, todylaboratories®, bmn, code L16LD1692

laboratory diagnostic - genetics mollecular biology - Sperm, chromatin structure, sperm 2 x 500 µL. Freeze the sample within 1 hour after sampling. Observe a period of abstinence between 3 and 5 days. Reliability of method associated with adherence to pre-analytical procedure: - after liquefaction (approximately 30 min) and homogenisation, estimate the count (must be greater than 1 million/mL); - freeze 2 x 500 µL aliquots (Cryotubes supplied upon request), by immersing them directly in liquid nitrogen or by placing them in a freezer at -80°C; Storage and transportation at -30°C. Attach the spermogram results if possible, Flow Cytometry, ssso, todylaboratories®, bmn, code L16LD1716

laboratory diagnostic - genetics mollecular biology - Angelman/Prader-Willi Syndrome, SNRPN methylation, amniotic fluid - prenatal, amniotic fluid 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, Methyl-PCR bisulfite, ssso, todylaboratories®, bmn, code L16LD1709

laboratory diagnostic - genetics mollecular biology - Fanconi anaemia - breakage screen, heparin whole blood 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form, the clinical data and signed patient consent form, supplied upon request. ALWAYS attach the last blood/platelet count results. Chromosome fragility with caryolysine, ssso, todylaboratories®, bmn, code L16LD1660

laboratory diagnostic - genetics mollecular biology - Karyotype, product of conception, IUFD, Products of conception - IUFD (skin, cord, tendon, placenta) at ambient temperature. It is IMPERATIVE to attach the completed information form supplied upon request , Conventional cytogenetics: Culture + chromosome analysis, ssso, todylaboratories®, bmn, code L16LD1672

laboratory diagnostic - genetics mollecular biology - BRAF Gene - Screening for V600E mutation on exon 15, paraffin-embedded tumor block or paraffin slides at ambient temperature. Attach the histology report, Sequencing, ssso, todylaboratories®, bmn, code L16LD1668

laboratory diagnostic - genetics mollecular biology - Karyotype - prenatal constitutional karyotype - SNP/CGH Array, cultured amniotic fluid (2x10 ml) + parents EDTA whole blood (5ml) at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request. SNP/CGH Array, ssso, todylaboratories®, bmn, code L16LD2880

laboratory diagnostic - genetics mollecular biology - Karyotype - amniotic fluid - prenatal, amniotic fluid, amniotic fluid 2x10ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request. Conventional cytogenetics: Culture + chromosome analysis, ssso, todylaboratories®, bmn, code L16LD1671

laboratory diagnostic - hematology - Soluble transferrin receptor, sTfR, serum 1ml refrigerated, Immunoturbidimetry, ssso, todylaboratories®, bmn, code L16LD1751

laboratory diagnostic - hematology - Sézary cells, screening, unstained heparin whole blood smear at ambient temperature, Microscopy, ssso, todylaboratories®, bmn, code L16LD1730

laboratory diagnostic - hematology - Erythrocyte iron, sange total heparina 5ml refrigerated, Atomic absorption, ssso, todylaboratories®, code L16LD1737

laboratory diagnostic - hematology - Erythrocyte ferritin, heparin whole blood 5ml refrigerated; Specify the results for red blood cells and haemoglobin, EIA, ssso, todylaboratories®, bmn, code L16LD1735

laboratory diagnostic - hematology - Porphyrins - urines, Early morning urine 5ml frozen. Store away from light, HPLC or spectrophotometry, ssso, todylaboratories®, bmn, code L16LD1749

laboratory diagnostic - hematology - Porphobilinogen - urines, Early morning urine 100ml refrigerated. Store away from light, Ion Exchange Chromatography - colorimetry, ssso, todylaboratories®, bmn, code L16LD1750

laboratory diagnostic - hematology - Haemoglobin - screening for anomalies, EDTA whole blood 4ml refrigerated, Electrophoresis - HPLC, ssso, todylaboratories®, bmn, code L16LD1743

laboratory diagnostic - others - Interferon alpha - CSF, CSF 0.5mL. Attach the clinical data, ssso, todylaboratories®, bmn, code L16LD1633

laboratory diagnostic - others - a-1 Antitrypsin, Alpha-1 Antitrypsin, AAT, stool specimen, stool 20g, refrigerated, Nephelometry, ssso, todylaboratories®, bmn, code L16LD1589

laboratory diagnostic - others - P1NP - Intact N-Terminal Propeptide of Type I Procollagen, Non haemolysed serum (only) 1ml, Electrochemiluminescence, ssso, todylaboratories®, bmn, code L16LD1645

laboratory diagnostic - others - ECP, Eosinophil Cationic Protein (allergy, differential diagnosis between allergic and non-allergic disordes), serum 1ml, frozen, The serum must be frozen within 4 hour after collection and must be sent in the frozen samples container(!)Do not use plasma and haemolysed serum. sample on tube with phase separator or dry tube. Allow to coagulate for 60 to 120 min at ambient temperature (20-24°C). Centrifuge at 1350 g for 10 min at ambient temperature (20-24°C). Transfer the serum into a new tube and freeze. The type of tube used for the sample, the coagulation time and the temperature must be perfectly controlled as these parameters affect the ECP concentration released in the serum samples.Fluorescent enzyme-immunoassay, todylaboratories®, code L76LD1614

laboratory diagnostic - others - Neopterin - urines, early morning urine 20ml, The urine must be frozen within 1 hour after collection and must be sent in the frozen samples container(!). Home sampling is not advisable. Radioimmunoassay, ssso, todylaboratories®, bmn, code L16LD1643

laboratory diagnostic - others - Interferon beta - neutralizing antibody - serum, serum 2ml. The serum must be frozen after collection and must be sent in the frozen samples container(!). ALWAYS attach the clinical data; tubes with gel separators are forbidden, ssso, todylaboratories®, bmn, code L16LD1636

laboratory diagnostic - others - IGFBP-3 - Insulin-like Growth Factor Binding protein-3, serum 1ml; The serum must be frozen within 4 hour after collection and must be sent in the frozen samples container(!) Specify the patient's age and attach the clinical data, CLIA, todylaboratories®, code L76LD1631

laboratory diagnostic - others - Pancreatic polypeptide, serum 1ml, Centrifuge at +4°C and FREEZE the serum immediately, The serum must be frozen immediately after collection and must be sent in the frozen samples container(!). Radioimmunoassay, ssso, todylaboratories®, bmn, code L16LD1646

laboratory diagnostic - others - Antioxidant activity, heparin plasma 1ml, Frozen, The plasma must be frozen within 1 hour after collection and must be sent in the frozen samples container(!), Colorimetry, ssso, todylaboratories®, bmn, code L16LD1602

laboratory diagnostic - others - Angiotensin II, EDTA plasma 2ml. The plasma must be frozen within 1 hour after collection and must be sent in the frozen samples container(!), Collect sample on a ice-cooled tube. Spin down in a refrigerated centrifuge. Radioimmunoassay, ssso, todylaboratories®, bmn, code L16LD1592

laboratory diagnostic - others - Neopterin - CSF, LCR 1ml, The sample must be frozen within 1 hour after collection and must be sent in the frozen samples container(!), Radioimmunoassay, ssso, todylaboratories®, bmn, code L16LD1642

laboratory diagnostic - others - Interferon alpha - neutralizing antibody - serum, serum 2ml. Attach the clinical data, ssso, todylaboratories®, bmn, code L16LD1635