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 - 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 - 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 - 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 - BCR-ABL - gene - quantitative, total blood collected on PAX gene tube available on request. The sample must be frozen within 4 hour after collection and must be sent in the frozen samples container(!) Attach: the current clinical and therapeutic data, the results of the FBC - platelets, the previous BCR-ABL quantification results, if follow-up is not performed in the laboratory, RQ-PCR, ssso, todylaboratories®, bmn, code L16LD1667

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 - 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 - 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 - Uniparental disomy, UPD, 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. Microsatellites (14, 15, 7, 11, 16, 20). Fluorescent sequence analysis (PCR), ssso, todylaboratories®, bmn, code L16LD1681

laboratory diagnostic - genetics mollecular biology - Duchenne's muscular dystrophy, EDTA whole blood 5ml at ambient temperature. It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, MLPA - multiplex ligation dependent-probe amplification, todylaboratories®, bmn, code L16LD2881

laboratory diagnostic - genetics mollecular biology - Familial mediterranean fever, MEFV gene, EDTA whole blood 2x5ml at ambient temperature, It is IMPERATIVE to attach the completed information form and signed patient consent form, supplied upon request, Molecular biology, ssso, todylaboratories®, bmn, code L16LD1701

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 - Haemochromatosis, HFE gene, p.Cys282Tyr 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 L16LD1689

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 - 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 - 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 - 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 - 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 - 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 - Microdeletion syndromes, 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 L16LD1714

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 - 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 - Y chromosome, Microdeletions, reg. Yq, AZFa/AZFb/AZFc, amniotic fluid, cultivated amniotic fluid, cultivated trophoblasts, at ambient temperature. 5 ml of whole blood on EDTA from each parent (quotation 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, PCR multiplex, ssso, todylaboratories®, bmn, code L16LD1719

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

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 - Erythropoietin, EPO, serum 1ml, Chemiluminescence, todylaboratories®, code L76LD1733

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

laboratory diagnostic - others - HLA Antibodies, serum 5ml, frozen, The serum must be frozen within 4 hour after collection and must be sent in the frozen samples container(!) Microlymphocytotoxicity assay, ssso, todylaboratories®, bmn, code L16LD1621

laboratory diagnostic - others - Class II HLA - HLA-DQ and HLA-DR genotyping, different pathologies, NOT FOR TRANSPLANT, EDTA whole blood 5ml. DO NOT FREEZE SEND AMBIENT TEMPERATURE, PCR LABTYPE SSO Typing test, ssso, todylaboratories®, bmn, code L16LD1625

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 - IL6, Interleukin 6, serum 1ml, The serum must be frozen within 4 hour after collection and must be sent in the frozen samples container(!) Electrochemilumuncescence, ssso, todylaboratories®, bmn, code L76LD1876

laboratory diagnostic - others - Interferon alpha - biological fluid, Biological fluid 1ml, Attach the clinical data, ssso, todylaboratories®, bmn, code L16LD1634

laboratory diagnostic - others - Interferon alpha - serum, serum 1ml. Attach the clinical data, ssso, todylaboratories®, bmn, code L16LD1632

laboratory diagnostic - others - Interferon gamma - CSF, CSF 0.5mL. Attach the clinical data, Enzyme-immunoassay, ssso, todylaboratories®, bmn, code L16LD1638

laboratory diagnostic - others - Neopterin - serum, serum 1ml, The serum must be frozen within 1 hour after collection and must be sent in the frozen samples container(!), Radioimmunoassay, ssso, todylaboratories®, bmn, code L16LD1641

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 - NTx - N-telopeptides of type I collagen - urine, 1st or 2nd Early morning urine 5ml. The urine must be frozen within 4 hour after collection and must be sent in the frozen samples container(!).Fasting sample. The urinary creatinine will be tested systematically on the same sample (SFBC recomendations). The sampling method chosen must be retained in repeat prescriptions, Enzyme-immunoassay, ssso, todylaboratories®, bmn, code L16LD1644

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 - Protein 14.3.3, LCR (Creutzfeldt-Jakob disease), LCR 2ml frozen. The sample must be frozen within 4 hour after collection and must be sent in the frozen samples container(!). Centrifuge and settle the sample immediately in a tight double container. Attach completed information form available from the International Division, Western-Blot, ssso, todylaboratories®, code L76LD1647

laboratory diagnostic - others - RF, Rheumatoid factors, IgA, serum 1ml, Enzyme-immunoassay, ssso, todylaboratories®, bmn, code L16LD1648

laboratory diagnostic - others - Serum amyloid A protein - SAA, serum 2ml. Nephelometry, ssso, todylaboratories®, bmn, code L16LD1651

laboratory diagnostic - others - TNF alpha, Tumour Necrosis Factor, serum 1ml, frozen, The serum must be frozen within 4 hour after collection and must be sent in the frozen samples container(!) Enzyme-immunoassay, ssso, todylaboratories®, bmn, code L16LD1654