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 - 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 - genetics mollecular biology - Haemochromatosis, HFE gene, p.Ser65Cys 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 L16LD1691

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 - 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 - 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 - 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 - Aneuploidies of sex chromosomes X, 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 L16LD1664

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 - 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 - Cytogenetics haematological and mollecular, FISH, 5ml heparin whole blood or 2mL bone marrow or ganglion at ambient temperatra. Bone marrow: 1 heparinised syringe or medullary puncture transferred into a lithium heparinate tube. Glands: sterile bottle (in case of shipping time more than 24 hrs with sterile culture medium supplied upon request), mollecular cytogenetics or FISH, ssso, todylaboratories®, bmn, code L16LD1679

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 - 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 - 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, bone marrow, whole blood, 5 ml heparin whole blood, 2 mL bone marrow or ganglion at ambient temperature. Bone marrow: 1 heparinised syringe or medullary puncture transferred into a lithium heparinate tube, Glands: sterile bottle (in case of shipping time more than 24 hrs with sterile culture medium supplied upon request) Attach: the clinical and therapeutic data, the results of the FBC, Platelets, the myelogram report, the immunophenotyping report, Conventional cytogenetics: Culture + chromosome analysis, ssso, todylaboratories®, bmn, code L16LD1675

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 - 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 - a-1 Antitrypsin, Alpha-1 Antitrypsin - PI phenotype, serum 2ml, refrigerated, Isoelectric focusing, ssso, todylaboratories®, bmn, code L16LD1658

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 - Zygosity twinning study, fresh amniotic fluid at ambient temperature, It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, Microsatellites Study by PCR, ssso, todylaboratories®, bmn, code L16LD1721

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 - Hypoacusis, mutations in genes GJB2 si GJB6, EDTA whole blood 5ml at ambient temperature It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, Sequencing, ssso, todylaboratories®, bmn, code L16LD1693

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 - Angelman/Prader-Willi Syndrome, uniparental disomy, mechanism identification, 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,Microsatellites/Fluorescent sequence analysis (PCR), ssso, todylaboratories®, bmn, code L16LD1707

laboratory diagnostic - hematology - Iron - urines, non-acidified 24hr urine 20ml refrigerated. Specify diuresis volume, Atomic absorption, ssso, todylaboratories®, code L16LD1738

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 - Pyruvate kinase, chronic non spherocytic hemolytic anemia, ACD whole blood 5ml refrigerated, for children, EDTA whole blood is accepted (minimum 3mL), IMPORTANT: send the sample in the day of collection, Spectrophotometry, ssso, todylaboratories®, bmn, code L16LD1271

laboratory diagnostic - hematology - Soluble complexes - CID, differential diagnosis for acute primary and secondary fibrinolysis, citrated plasma 1ml. The plasma must be frozen within 1 hour after collection and must be sent in the frozen samples container, Haemagglutination, ssso, todylaboratories®, bmn, code L16LD1732

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

laboratory diagnostic - hepatitis - HEV, hepatitis E, anti-HE IgM, antibody, serum 1ml, IgM screening is performed in priority in order to diagnose an acute HEV infection., Enzyme immunoassay, todylaboratories®, code L76LD1779

laboratory diagnostic - hepatitis - Fibrometre A, Platelets: 5 mL of EDTA whole blood : Ambient temperature; PT: 1 mL of citrated plasma : FROZEN <1hr; Hyaluronic acid: 1 mL of serum : FROZEN <1hr; Alpha 2 macroglobulin: 1 mL of serum : Refrigerated; Please send 1 tube per test; Attach completed information form supplied upon request; Chemistry, nephelometry, Enzyme-immunoassay, coagulation and platelets count, ssso, todylaboratories®, bmn, code L16LD1784

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

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 - 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