Tuesday, October 31, 2023

PAROTID SALIVARY GLANDS ANTIBODIES IGG, SERUM

New Test in NOÛS Catalog

Test Code: 9925

Sample:
Serum (1 ml)
Conservation:
Refrigerated
Method:
Indirect fluorescent antibody
Set Up Days:
Daily
Delivery term:
5 days

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Thursday, October 26, 2023

Phenylketonuria (PAH) sequencing, whole blood

Description, Method and Delivery Time Modification

Test code: 5494
Mnemonic code: G03028

Effective update from 06/11/2023




PREVIOUS

NEW
Phenylketonuria (PAH) sequencing, whole blood  

Method: Sanger Sequencing      
           
Delivery term: 40
     
Version of Test: 5
     

PHENYLKETONURIA · PAH · NGS        

Method: Next Generation Sequencing (NGS)             
Delivery term: 32 days
           
Version of Test: 6
     

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HAEMOSIDERIN, URINE

Reference values Modification

Test code: 2633
Mnemonic code: HEMOR

Effective update from 06/11/2023




PREVIOUS

NEW
        
      Not detected
     
     
      Version of Test: 13
     

        
      Nebative   
         
     
      Version of Test: 14
     

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HLA-B5701 genotype (susceptibility to Abacavir), total blood

Reference values Modification

Test code: 3467
Mnemonic code: B5701

Effective update from 06/11/2023




PREVIOUS

NEW
        
      Negative
     
      METHODOLOGY: DNA extraction from peripheral blood. Amplification by RT-PCR (real-time polymerase chain reaction) using specific primers to identify alleles HLA-B*5701. HGB gene hasbeen analysed as internal control. Detection was doing by SYBR Green stain and melting curve.
      NOTE: HLA-B*5701 allele is associated to a hipersensitivity reaction to anti-HIV Abacavir drug.
     
     
      Version of Test: 3
     

        
Negative

Technique: DNA extraction from whole blood and subsequent amplification by real-time PCR (CE-IVD commercial method) of the alleles of the HLA-B*57:01 group associated with a hypersensitivity reaction to abacavir, and of a fragment of the HBB (ß-globin) gene used as an internal positive control.         
         
         
Version of Test: 4
     

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BETA 2-MICROGLOBULIN, URINE

Result Format Modification

Test code: 4268
Mnemonic code: Does not apply

Effective update from 06/11/2023




PREVIOUS

NEW
        
      R1: Beta 2-Microglobulin µg/24 H
     
     
      R2: Beta 2-Microglubulin µg/mL
     
     
     
      Version of Test: 21
     

        
      R1: Beta 2-Microglobulin µg/24 H   
         
     
      
     

     
      Version of Test: 22
     

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HLA-B51/B52 (HLA-B5) genotype, whole blood

Reference values Modification

Test code: 5121
Mnemonic code: GHLB5

Effective update from 06/11/2023




PREVIOUS

NEW
        
NEGATIVE
     
     
     
Version of Test: 4
     

        
Negative         
         
Technique: DNA extraction from whole blood and subsequent amplification by real-time PCR (CE-IVD commercial method) of the HLA-B51/52 alleles, associated with predisposition to Behçet's disease, and a fragment of the HBB (ß-globin) gene used as an internal positive control.


Note: Using this procedure it is possible to detect the HLA B51 and HLA B52 alleles associated with Behçets disease.         
     

Version of Test: 5

     


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Wednesday, October 25, 2023

HLA-B27 genotype, total blood

Reference values Modification

Test code: 2909
Nmnonic code: B27

Effective update from 06/11/2023




PREVIOUS

NEW
        
      NEGATIVE
     
      OBSERVATIONS: The HLA-B27 allele, present approximately in 9% of the Caucasian population. It has been associated with many autoimmune diseases such as Ankylosing Spondylitis, Reiter disease, Uveitis, Reactive Arthritis, Psoriatic Arthritis and Sacroiliitis. This association occurs in all the ethnic groups, being present in more than 90% of the patients with Ankylosing Spondylitis. 20 alleles of the HLA-B27 have been described going from HLA-B2701 to the HLA-B2720. The HLA-B2705 includes HLA-B27052 and HLAB27053 as well. But all of them are present in the region of exon 3 that is amplified by this technique.
     
     
      Delivery term: 3
     
     
      Version of Test: 11
     

        
Negative

 Technique: DNA extraction from whole blood and subsequent amplification by real-time PCR (commercial CE-IVD method) of the HLA-B*27 gene, associated with seronegative spondyloarthropathies, and a control gene.        
         
Explanatory note: It is present in approximately 7% of Caucasian individuals and in 89% of patients with ankylosing spondylitis. It can also be positive in 42% of patients with juvenile rheumatoid arthritis and in 79% of patients diagnosed with Reiter's syndrome.
     
Version of Test: 4
     

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COCAINE CONFIRMATION (LC-MS/MS), SALIVA

Mnemonic Code Modification

Test code: 9744

Previous mnemonic code: THCS
New mnemonic code: COCSA

Effective update from 06/11/2023

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Spinocerebellar Ataxia, type 12, SCA12 (PPP2R2B) screening, total blood

Description Modification

Test code: 1566

Effective update from 06/11/2023




PREVIOUS

NEW
Spinocerebellar Ataxia, type 12, SCA12 (PPP2R2B) screening, total blood
Version of Test: 5
     

SPINOCEREBELLAR ATAXIA TYPE 12 · PPP2R2B · FRAGMENT A.        
         
Version of Test: 6
     

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ATAXIA CEREBELLAR WITH NEUROPATHY AND BILATERAL ARREFLEXIA VESTIBULLAR, SYNDROME· RFC1 · A. FRAGMENT

New Test in NOÛS Catalog

Test Code: 9924

Sample:
Biological Sample
Conservation:
Refrigerated
Method:
Cleave Assay
Set Up Days:
Daily
Delivery term:
39 days

    Find the record of the test by clicking here

Tuesday, October 24, 2023

THYROGLOBULIN, BIOLOGICAL FLUID

New Test in NOÛS Catalog

Test Code: 9922

Sample:
Biological fluids (2 ml)
Conservation:
Refrigerated
Method:
Chemiluminescence
Set Up Days:
Daily
Delivery term:
2 days

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DRUG CONFIRMATORY – LC-MS/MS

Delivery Time Modification


Effective update from 30/10/2023

Test Code

Mnemonic Code

Test

Delivery  Time (Days)

Delivery  Time (Days)

2684

Does not apply

AMPHETAMINES CONFIRMATION, URINE

12

5

8882

Does not apply

AMPHETAMINES CONFIRMATION, BLOOD

3

5

8763

Does not apply

COCAINE CONFIRMATION, BLOOD

7

5

8877

Does not apply

HEROIN CONFIRMATION, BLOOD

3

5

3225

Does not apply

KETAMINES CONFIRMATION, URINE

3

5

8879

Does not apply

KETAMINES CONFIRMATION, BLOOD

3

5

2876

Does not apply

DIETHYLAMIDE OF LISERGIC ACID - CONFIRMATION (LSD), URINE

3

5

8880

Does not apply

DIETHYLAMIDE OF LISERGIC ACID - CONFIRMATION (LSD), BLOOD

3

5

3031

Does not apply

METHADONE CONFIRMATION, URINE

15

5

2543

Does not apply

OPIATES CONFIRMATION, URINE

3

5

2544

Does not apply

TETRAHYDROCANNABINOL CANNABIS CONFIRMATION, URINE

7

5

8762

Does not apply

TETRAHYDROCANNABINOL CANNABIS CONFIRMATION, BLOOD

7

5




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Myelodysplastic Syndrome (SMD), panel (8cen, del20q12, 11q23 (MLL), del5q31(EGR1), del7q) FISH, total blood/bone marrow

Description and Studied Genes Modification

Test code: 3809
Mnemonic code: Does not apply

Effective update from 06/11/2023




PREVIOUS

NEW
        
      Description: Myelodysplastic Syndrome (SMD), panel (8cen, del20q12, 11q23 (MLL), del5q31(EGR1), del7q) FISH, total blood/bone marrow
     
      Studied Genes: (8cen, del20q12, 11q23 (MLL), del5q31(EGR1), del7q)


    

 
     
      Version of Test: 9
     

        
      Description: MYELODYSPLASIC SYNDROME (MDS) · PANEL · FISH


      Studied Genes: CUL1 [7q36], EGR1 [5q31.2], KMT2E [7q22], MKT2A (MLL) [11q23], PTPRT [20q12], RSP14 [5q32.33], RUNX1(ETO) [8q21.3-22.1), RUNX1(AML1) [21q22.1], TP53 [17p13.1], D7Z1 [7p11.1-q11.1], D5S1518E/D5S1976 [5p15.2-15.3], MYBL2 [20q13]
         
               
      Version of Test: 10
     

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