New Test in NOÛS Catalog
Test Code: 10111
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New Test in NOÛS Catalog
Test Code: 10110
Dear colleagues and collaborators,
We inform you that, due to manufacturing problems with one of the reagents, we are obliged to temporarily discontinue, as of today, the 2062 - LIGHT CHAINS KAPPA/LAMBDA, SERUM and 2063 - LIGHT CHAINS KAPPA/LAMBDA, URINE tests.
We are working to resolve the problem as soon as possible, but currently we do not have a reactivation date for these tests. On the other hand, we also do not have an estimated release date for pending results.
As for the samples already received, the corresponding protocols have been established to guarantee the stability of the samples and ensure the quality of the results.
Given the situation, we kindly ask you to avoid sending new samples until further notice and to extend this information to all your customers.
We will keep you informed of any new developments,
We remain at your disposal for any questions or queries,
Kind regards,
E-Mail: | |
Web: |
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Código |
Código
Nemónico |
ANTERIOR |
ACTUAL |
|
8986 |
G18014 |
CISPLATIN TOXICITY · TPMT · HOT SPOT |
CISPLATIN,
RESPONSE TO · TPMT · HOT SPOT
|
|
8862 |
G18010 |
5-FLUOROURACIL TOXICITY · DPYD · HOT SPOT |
FLUOROPYRIMIDINES, RESPONSE
TO · DPYD · HOT SPOT |
|
9566 |
G18016 |
TOXICITY TO IRINOTECAN · UGT1A1 · HOT SPOT |
IRINOTECAN,
RESPONSE TO · UGT1A1 · HOT SPOT |
|
10057 |
G18019 |
MAVACAMTEN TOXICITY · CYP2C19 · HOT SPOT |
MAVACAMTEN,
RESPONSE TO · CYP2C19 · HOT SPOT |
|
8984 |
G18012 |
METOTREXATE TOXICITY · MTHFR · HOT SPOT |
METOTREXATE,
RESPONSE TO · MTHFR · HOT SPOT |
|
9774 |
G18017 |
WARFARIN TOXICITY · CYP2C9, VKORC1 · HOT SPOT |
WARFARIN,
RESPONSE TO · CYP2C9, VKORC1 · HOT SPOT |
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PREVIOUS | NEW |
Reference Values: Negative: Less than 1/5 * Source: PNT, Insert Delivery term: 5 days Version of Test: 11 | Reference Values Negative: Titer less than 1/10 *Source: Insert Delivery term: 8 days Version of Test: 12 |
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PREVIOUS | NEW |
Units: mg/dL Reference Values: 5 - 8 mg/dL Version of Test: 1 | Units: % Reference Values: 80 - 120 % *Souce: Insert Version of Test: 2 |
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New Test in NOÛS Catalog
Test Code: 10109
PREVIOUS | NEW |
Reference values: Older than 18 years old: Less than 38 mg/24 h Version of Test: 18 | Reference values: 10 days -7 weeks: 2.2 - 3.3 mg/24 h 1 - 12 years: 5.0 - 31 mg/24 h Adult: Less than 38 mg/24 h *Source: Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics Version of Test: 19 |
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PREVIOUS | NEW |
Description: BETA-THALASSEMIA SCREENING · HBB · HOT SPOT Method: Hot Spot Result format: R1 Result Reference values: TECHNIQUE: DNA extraction and molecular analysis for the detection of the following mutations: -101(C>T), -87(C>G), -30(T>A), codón 5 (- CT) , codón 6 (G>A) HbC, codón 6 (A>T) HbS, codón 6 (- A), codón 8 (- AA), codón 8/9 (+G), codón 15 (TGG>TGA), codón 27 (G>T) Knossos, IVS 1.1 (G>A), IVS 1.5 (G>C), IVS 1.6 (T>C), IVS 1.110 (G>A), IVS 1.116 (T>G), IVS 1.130 (G>C), codón 39 (C>T), codón 44 (- C), IVS 2.1 (G>A), IVS 2.745 (C>G), IVS 2.848 (C>A). The analytical sensitivity of the study is> 95%. Note: This study discards 90% of the most frequent mutations found in the Mediterranean area. This result does not exclude the presence of other mutations in the gene for beta-globin part of the analyzed. More or less, 10% of patients with clinical features of beta-thalassemia may carry other mutations that are not excluded in this study. When a negative result is observed or with the identification of a single mutation in HBB gene sequence, analysis of the entire coding region is recommended. Delivery term: 8 days Version of Test: 5 | Description: BETA-THALASSEMIA · HBB · PCR-HYBRIDIZATION Method: PCR-hybridization genotyping Result format: R1 Sample R2 Result Reference values: Interpretation Puehringer et al. (2007) Clin Chem Lab Med; 45(5):605-10 Delivery term: 10 days Version of Test: 6 |
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PREVIOUS | NEW |
Description: Alpha-thalassemia, pannel (HBA1/HBA2) screening, whole blood Method: PCR/Hidridization-reverse Result format: R1 Result Reference values: TECHNIQUE: DNA extraction and PCR amplification for the detection of the following mutations: -a3.7, -a4.2, -(a)20.5, -MED, -SEA, -THAI, -FIL, a1 cd 14 (G>A), a1 cd 59 (G>A Hb Adana),aaa anti-3.7, a2 init. cd (ATG>ACG), a2 cd 19 (-G), a2 IVS1 (deleció 5 pb),a2 cd 59 (G>A), a2cd 125 (T>C Hb Quong Sze), a2 cd 142 (T>C Hb Constant Spring), a2 cd 142 (T>A Hb Icaria), a2 cd 142 (A>T Hb Pakse),a2 cd 142(A>C Hb Koya Dora),a2 polyA-1(tipus saudí AATAAA>AATAAG),a2 polyA-2 (tipus turc AATAAA>AATGAA). * Fuente: PNT, Insert Delivery term: 20 days Version of Test: 11 | Description: ALPHA-THALASSEMIA · HBA1, HBA2 · PCR-HYBRIDIZATION Method: PCR-Hybridization Genotyping Result format: R1 Sample R2 Result Reference values: Interpretation Mutations or deletions in the alpha-globin genes (HBA1 and HBA2) are the genetic cause of alpha-thalassemia, an autosomal recessive inherited hemoglobinopathy characterized by a lack of production or insufficient production of alpha-globin chains, leading to a variable clinical picture depending on the number of affected alleles. This report should be interpreted by a specialist within the clinical context and family history of the patient, along with other laboratory findings. Genetic counseling is recommended. Methodology DNA extraction followed by amplification using PCR and reverse hybridization (CE-IVD method) for the specific analysis of 21 deletions and point mutations in the alpha-1 (HBA1, reference sequence NM_000558.3) and alpha-2 (HBA2, reference sequence NM_000517.4) hemoglobin subunit genes related to alpha-thalassemia. Variants studied: NG_000006.1: g.34164_37967del3804, -4.2 kb, g.15164_37864del22701, g.24664_41064del16401, g.26264_45564del19301, g.10664_44164del33501, g.11684_43534del31851, Triplication of anti-3.7 genes. HBA1: c.44G>A, c.179G>A. HBA2: c.2T>C, c.60delG, c.95+2_95+6delTGAGG, c.179G>A, c.377T>C, c.427T>C, c.427T>A, c.429A>T, c.428A>C, c.+94A>G, c.+92A>G. Limitations This study does not analyze other variants beyond those examined. Normal/polymorphic genomic variation in the patient’s sample may interfere with the detection of the variant. This test does not differentiate between heterozygous and homozygous mutations for the anti-3.7 gene triplication (anti-3.7/αα and anti-3.7/anti-3.7). In the presence of large gene deletions not detectable by the assay, single gene deletions (-3.7 or -4.2) and point mutations will appear as homozygous. References HbVar database (http://globin.cse.psu.edu/hbvar/menu.html) Puehringer et al. (2007) Clin Chem Lab Med; 45(5):605-10 Delivery term: 10 days Version of Test: 12 |
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