Wednesday, August 26, 2020

Wilson Syndrome (exons 2, 1', 18-ATP7B) screening, total blood

Erased test

Test code: 1171

Effective update from 31/08/2020

Alternative test:
8630- WILSON DISEASE · ATP7B(p.His1069Gln) · HOT SPOT

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BREAST AND OVARIAN HEREDITARY CANCER · PALB2, RAD50, RAD51C, RAD51D · MLPA

New Test in NOÛS Catalog
Test Code: 8624
Sample:
Whole blood - EDTA (5 ml)
Conservation:
Refrigerated
Method:
Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:
Daily
Delivery term:
30 days
    Find the record of the test by clicking here

WALKER WARBURG, SYNDROME · PANEL · NGS

New Test in NOÛS Catalog
Test Code: 8625
Sample:
Whole blood - EDTA (5 ml)
Conservation:
Refrigerated
Method:
Next Generation Sequencing (NGS)
Set Up Days:
Daily
Delivery term:
42 days
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WILSON DISEASE · ATP7B(p.His1069Gln) · HOT SPOT

New Test in NOÛS Catalog
Test Code: 8630
Sample:
Biological Sample
Conservation:
Refrigerated
Method:
Hot Spot
Set Up Days:
Daily
Delivery term:
22 days
Information:

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Tuesday, August 25, 2020

DEHYDROEPIANDROSTENEDIONE (DHEA), SERUM

Reference values Modification

Test code: 332

Effective update from 26/08/2020



PREVIOUS

NEW
        
      Boys:
      6 - 9 years: 0.13 - 1.87 ng/mL
      10 -11 years: 0.31 - 2.05 ng/mL
      12 -14 years: 0.83 - 2.58 ng/mL
     
      Girls:
      6 - 9 years: 0.18 - 1.89 ng/mL
      10 -11 years: 1.12 - 2.24 ng/mL
      12 -14 years: 0.98 - 3.60 ng/mL
     
      Adults:
      Men :     1.80 - 10.9 ng/mL
      Women :   1.40 - 8.71 ng/mL
      
      * Children reference range source: Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics, 7th edition. Carl A. Burtis PhD, David E. Bruns MD.
      * Adults reference range source: Data sheet supplier.
     
     
      Version of Test: 21
     

      Boys:
      6 - 9 years: 0.13 - 1.87 ng/mL
      10 -11 years: 0.31 - 2.05 ng/mL
      12 -14 years: 0.83 - 2.58 ng/mL
     
      Girls:
      6 - 9 years: 0.18 - 1.89 ng/mL
      10 -11 years: 1.12 - 2.24 ng/mL
      12 -14 years: 0.98 - 3.60 ng/mL
     
      Adults:
      Men :    1.87 - 15.01 ng/mL
      Women :  1.65 - 13.50 ng/mL
      
      * Children reference range source: Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics, 7th edition. Carl A. Burtis PhD, David E. Bruns MD.
      * Adults reference range source: Data sheet supplier.
     
     
      Version of Test: 22
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Clostridium difficile (toxin B) DNA, stool

Delivery Time Modification

Test code: 4778

Effective update from 26/08/2020



PREVIOUS

NEW
        
      Delivery term: 3 days
   
        
   Delivery term: 5 days

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LEPTIN, SERUM

Delivery Time Modification

Test code: 3120

Effective update from 26/08/2020



PREVIOUS

NEW
        
     Delivery term: 5 days
     

        
     Delivery term: 7 days
     
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VASCULAR ENDOTHELIAL GROWTH FACTOR TYPE D (VEGF-D), PLASMA

New Test in NOÛS Catalog
Test Code: 8628
Sample:
Plasma - EDTA (2 ml)
Conservation:
Frozen
Method:
Enzyme Immunoassay
Set Up Days:
Daily
Delivery term:
24 days
    Find the record of the test by clicking here

VASCULAR ENDOTHELIAL GROWTH FACTOR (VEGF), PLASMA

Description, Reference values Modification

Test code: 1232

Effective update from 31/08/2020


PREVIOUS

NEW
   
      VASCULAR ENDOTHELIAL GROWTH 
      FACTOR (VEGF), PLASMA  
  
      Plasma EDTA: Less than 128.9 pg/ml
     
      Version of Test: 16
     
   
      VASCULAR ENDOTHELIAL GROWTH FACTOR 
      TYPE A(VEGF-A), PLASMA  
  
      Less than 129 pg/ml
     
      Version of Test: 17
     
   Find the record of the test by clicking here

Friday, August 21, 2020

CARNITINE, TOTAL/FREE (L-CARNITINE) , PLASMA

Reference values and Delivery Time Modification

Test code: 2710

Effective update from 26/08/2020




PREVIOUS

NEW
        
FREE CARNITINE : 16 - 60 µmol/L

TOTAL CARNITINE: 25 - 69 µmol/L
     
     
      Delivery term: 17
     
     
      Version of Test: 13
     

        
FREE CARNITINE : 10 - 74 µmol/L

TOTAL CARNITINE: 25 - 69 µmol/L

             
         
         
     
      Delivery term: 11
     
     
      Version of Test: 14
     


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Pyruvate Dehydrogenase Deficiency (exons 6-11-PDHA1) screening, total blood

Description and Delivery Time Modification

Test code: 1987

Effective update from 21/08/2020




PREVIOUS

NEW
Pyruvate Dehydrogenase Deficiency (exons 6-11-PDHA1) screening, total blood  

Delivery time: 27 days 
     
     
      Version of Test: 2
     

PYRUVATE DEHYDROGENASE E1-ALPHA, DEFICIENCY  · PDHA1 · SANGER     
         

Delivery time: 30 days     

      Version of Test: 3
     

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Thursday, August 13, 2020

Congenital Adrenal Hyperplasia (CYP21A2) MLPA, whole blood

Test Description Modification

Test code: 5189

Effective update from 13/08/2020




PREVIOUS

NEW
 Congenital Adrenal Hyperplasia (CYP21A2) MLPA, whole blood
     
      Version of Test: 2
     

ADRENAL HYPERPLASIA DUE TO DEFICIT 21-HYDROXYLASE · CYP21A2 · MLPA    
     
      Version of Test: 3
     

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Tuesday, August 11, 2020

Disorders of the urea cycle, panel (ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15) NGS, whole blood

Description, Studied Genes and Delivery Time Modifications

Test code: 5429

Effective update from 11/08/2020




PREVIOUS

NEW
Description: Disorders of the urea cycle, panel (ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15) NGS, whole blood  
     
     
      Delivery term: 50
     
     
      Version of Test: 2
     

Description: DISORDERS OF THE UREA CYCLE· PANEL· NGS  


Studied Genes:  ARG1, ASL, ASS1, CPS1, GLUD1, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC7A7 
         
     
      Delivery term: 40
     
     
      Version of Test: 3
     

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Monday, August 10, 2020

Acetaminophen (Paracetamol), Serum

Reference values Modification

Test code: 548

Effective update from 10/08/2020




PREVIOUS

NEW
        
      10 - 30 µg/mL
      * Source: PNT, Insert
     
      Version of Test: 9
     

        
        10 - 30 µg/mL

Levels over 150 µg/mL four hours after ingestion may be associated with toxic effects.

Levels over 50 µg/mL at twelve hours after ingestion may be associated with toxic effects.

 
         
     
      Version of Test: 10
     


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Thursday, August 6, 2020

Lactose intolerance (lactase persistence/non-persistence) (MCM6) polymorphisms, whole blood

Delivery Time Modification

Test code: 1410

Effective update from 07/08/2020




PREVIOUS

NEW
        
     
     
      Delivery term: 15
     
     
      Version of Test: 16
     

        
         
     
      Delivery term: 20
     
     
      Version of Test: 16
     

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Monday, August 3, 2020

GAD ANTIBODIES, CSF

Samples Modification

Test code: 1793

Effective update from 03/08/2020




PREVIOUS

NEW
        
      CSF: Refrigerated
     
     
      Version of Test: 8
     

        
         CSF:Frozen
         
     
      Version of Test: 9
     

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