Friday, February 28, 2020

Phenylketonuria (exons 7, 8, 11, 12-PAH) screening, whole blood

Erased test

Test code: 1696

Effective update from 04/03/2020

Alternative test:
5494- Phenylketonuria (PAH) sequencing, whole blood

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Wednesday, February 26, 2020

Risk index - first trimester screenning (PAPP-A, Free Beta-HCG) , serum

Reference values Modification

Test code: 5181

Effective update from 26/02/2020



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      We recommend further study, if the patient's Down syndrome risk is equal to or greater than 1 in 250.
     
      We recommend further study, if the patient's Edwards' syndrome risk is equal to or greater than 1 in 250
     
      
     

        
      We recommend further study, if the patient's Down syndrome risk is equal to or greater than 1 in 250.
     
      We recommend further study, if the patient's Edwards' syndrome risk is equal to or greater than 1 in 250
     

      We recommend further study, if the patient's Patau's syndrome risk is equal to or greater than 1 in 250


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Tuesday, February 25, 2020

Factor V, variant HR2 (H1299R - F5) screening, whole blood

Description and Delivery Time Modification

Test code: 4909

Effective update from 28/02/2020




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NEW
        
Factor V, variant HR2 (H1299R - F5) screening, whole blood     
     
      Delivery term: 10 days
     
     
      Version of Test: 4
     

        
FACTOR V THROMBOPHILIA SUSCEPTIBILITY · F5 (His1299Arg (HR2)) · HOT SPOT         
     
      Delivery term: 22 days
     
     
      Version of Test: 5
     

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Friday, February 21, 2020

Risk index - first trimester screenning (PAPP-A, Free Beta-HCG) , serum

Report, Units and Method Modification

Test code: 5181

Effective update from 26/02/2020



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R6 (PAPP-A) Units: mU/L
    
R1: Age 
R2: Gestational age (day extraction)
R3: Gestational age (day echography)
R4: Nuchal Translucency
R5: MoM NT
R6: PAPP-A
R7: (MoM) PPAP-A
R8: Free Beta HCG
R9: (MoM) Free Beta HCG
R10: Calculated Down Syndrome Risk
R11: Trysomia 18 risk
     
 Method: Fluoroenzyme Immunoassay      

      Version of Test: 19
     

R6 (PAPP-A) Units: mUI/mL
         
R1: Age 
R2: Gestational age (day extraction)
R3: Gestational age (day echography)
R4: Nuchal Translucency
R5: MoM NT
R6: PAPP-A
R7: (MoM) PPAP-A
R8: Free Beta HCG
R9: (MoM) Free Beta HCG
R10: Calculated Down Syndrome Risk
R11: Trysomia 18 risk
R12: Trysomia 13 risk 
     
Method: Immunofluorescence Assay (TRACE)

      Version of Test: 20
     

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Usher Syndrome panel (MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31 (WHRN), CLRN1, CIB2, PDZD7) NGS, total blood

Description, Studied Genes and Delivery Time Modification

Test code: 7349

Effective update from 24/02/2020



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Usher Syndrome panel (MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31 (WHRN), CLRN1, CIB2, PDZD7)  NGS, total blood

Studied Genes

MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31 (WHRN), CLRN1, CIB2, PDZD7
     
     
      Delivery term: 60 days
     
     
      Version of Test: 3
     

        
USHER SYNDROME · PANEL · NGS           
Studied Genes
          
CDH23, CIB2, CLRN1, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A
       
      Delivery term: 42 days
     
     
      Version of Test: 4
     

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Thursday, February 20, 2020

DAO PLUS, PLASMA

Description, Report Modification

Test code: 1571

Effective update from 26/02/2020


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DAO PLUS, PLASMA

Interpretation of results:
High incidence of histamine intolerance:
< 3.74 U / mL (<40 HDU)

Possible incidence of histamine intolerance: 
3.74 - 12.54 U / mL (40-80 HDU)

Low incidence of histamine intolerance:
> 12.54 U / mL (> 80 HDU)        
         
HDU: histamine degradation unit
      Comments:
      Histamine is a molecule present in almost all foods, and each individual's capacity to metabolise and eliminate it is different. This capacity is essentially determined by the activity of the diamine oxidase (DAO) digestive enzyme. In people with normal DAO activity, the histamine in their diet is rapidly broken down. However, in people with low activity, a histamine excess is produced in the blood, which increases the likelihood of different symptoms appearing. Symptoms which are derived from what is known as DAO Deficit, food-induced histaminosis or histamine intolerance.
     
      The symptoms associated with DAO deficit vary greatly and represent highly prevalent chronic pathologies in the population (see table 1). Those affected by this deficit do not necessarily present with all of the described symptoms, although most generally present with 3 and migraine is especially prevalent among them. The appearance of symptoms is not related to the consumption of any food in particular but may rather be associated with a wide range of foods with variable histamine content. The appearance of symptoms is not immediate either as there is no direct time relationship between eating food with a high histamine or histamine releaser content and clinical diagnosis of DAO deficit.
     
     Both circumstances therefore make it difficult to establish a direct relationship between the food and the symptoms, and therefore a clinical diagnosis of DAO deficit. Identifying low DAO enzyme activity as an intrinsic factor in triggering clinical symptoms of DAO deficit allows effective preventive treatment of the illness and the improvement of the patient's quality of life.
     
      DAO enzyme activity does not always correlate with the concentration of the enzyme, so the analysis of its concentration is not useful in assessing the cause of the symptoms. Considerable placental synthesis of the DAO enzyme occurs during pregnancy, therefore the analysis is not recommended for pregnant women.

      DAO enzyme activity may be permanently low due to genetic factors, which is what happens to patients with DAO deficit. However, it may also be temporarily low due to the use of inhibitors (such as alcohol and many drugs) or pathological situations (for instance after intestinal surgery., etc.). Drug-induced inhibition is a relatively important possible cause as it has been indicated that more than 90 medicines are capable of inhibiting DAO activity (see table 2).         
         
      
      Table 1
      The clinical states currently associated with DAO deficit are:
      - Migraine and other vascular headaches
      - Gastrointestinal disorders: especially those associated with Irritable Bowel Syndrome, such as constipation, diarrhoea, satiety, flatulence or a bloated sensation
      - Dermatological disorders: such as dry skin, atopy and psoriasis
      - Bone disorders: such as osteopathic pain
      - Muscular problems: such as muscular pain, frequently diagnosed as fibromyalgia
      - Chronic Fatigue
      - In infancy and adolescence this has been related to attention disorder hyperactivity and with Cyclic Vomiting Syndrome.
     
      Table 2. Drugs capable of inhibiting the DAO
      (Veciana-Nogués y Vidal-Carou, 2008)
      Group             Active ingredient
      Analgesics        Metamizole 1,2
      Antihistamines    Diphenhydramine 4 
                        Cimetidine 1,3
      Antiarrhythmics   Quinidine 4 
                        Propafenone
      Antiasthmatics    Theophylline 4
      Antibiotics       Clavulanate 1,3 
                        Cefotiam 1,2 
                        Cefiroxina 1,2 
                        Cycloserina 4
                        Chloroquine 1,3 
                        Framycetin 4 
                        Pentamycin 1,4
      Antidepressants   Amitriptyline 1,4
      Antihypertensives Dihydralazine 1,3 
                        Verapamil 1,3
      Cardiotonics      Dobutamine 1,3
      Anti-rheumatic    Acemetacin 1,4
      Antiseptics       Acriflavine 4
      Antituberculars   Isoniazide 1,3
      Bronchitics       Aminophylline 1,3
      Diuretics         Amiloride 1,5 
                        Furosemide 4
      Mucolytics        Acetilcisteine 1,4 
                        Ambroxol 1,4
      Neurolépticos     Haloperidol 4
      Prokinetics       Metoclopramide 1,3
      Tranquilizers     Diazepam 4
      Muscle Relaxant   Pancuroni 1,4
     
      (1) Mainz i Novack (2007); (2) Sattler y col, (1985); (3) Sattler i Lorenz (1990); (4) Steneberg, A (2007), (5) Novotny y col, (1994); (6) Wantke (1998).
     
      Bibliography
      Maintz L, Novak N. Histamine and histamine intolerance. American Journal of Clinical Nutrition 2007, Vol.85, No. 5, 1185-1196.
     
      LABCO is a member of the Spanish DAO Deficit Society.
      Read more at: www.deficitdao.org, http://migratest.net/ http://lacosalud.com/migratest.         
    

 DAO PLUS
        
     See attached report
          
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AMINO ACIDS

Method Modification

Test code: 1432; 1505; 5039

Effective update from 24/02/2020

1432 - AMINO ACIDS, CSF
1505 - AMINOACIDS (COMPLETE STUDY), URINE
5039 - Aminoacids (complete study), plasma
 


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Method: Liquid Chromatography/Tandem Mass Spectrometry 

        
Method: Ultra High Performance Liquid Chromatography (UHPLC)

MIRTAZAPINE, SERUM

Reference values and Method Modification

Test code: 1186

Effective update from 24/02/2020



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NEW
        
      20 - 200 µg/L
      
Method: Gas Chromatography/Mass Spectrometry     

       
      30 - 80 µg/L
          
Method: Liquid Chromatography/Tandem Mass Spectrometry (LC-MS/MS)
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Wednesday, February 19, 2020

Hepatitis C virus (HCV) RNA viral load, plasma

UPDATE: Report, Results format and Delivery Time Modification

Test code: 2700

Effective update from 24/02/2020

The order of the results and the delivery time will not be altered for the new version of the test:

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R1: Result (copies/mL)
R2: Result (IU/mL)
R3: Result (log)

Results format:

No copies are detected
  
Quantification (IU/mL): <15 IU/mL
Quantification (copies/mL): <41 copies
Logarithm: <1.17

Viral load below 15 IU/mL
  
Quantification (IU/mL): <15 IU/mL
Quantification (copies/mL): <41 copies
Logarithm: <1.17
  
Quantified result
  
Quantification (IU/mL): 15 IU/mL
Quantification (copies/mL): 41 copies
Logarithm: 1.17
     
      Delivery term: 6 days
     
     
      Version of Test: 21
     

        
R1: Quantification (copies/mL)
R2: Quantification (IU/mL)
R3: Logarithm

Results format:

No copies are detected

Quantification (IU/mL): Not detected
Quantification (copies/mL): Not detected
Logarithm: Not Valuable

Viral load below 15 IU/mL

Quantification (IU/mL): <15 IU/mL
Quantification (copies/mL): <41 copies
Logarithm: Not Valuable

Quantified result
In case of quantification greater than or equal to 15 IU/mL, the results format is not modified

Quantification (IU/mL): 15 IU/mL
Quantification (copies/mL): 41 copies
Logarithm: 1.17
         
     
      Delivery term: 6 days
     
     
      Version of Test: 22
     

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COMPLEMENT C3 PROACTIVATOR, SERUM

Reference values and Delivery Time Modification

Test code: 351

Effective update from 21/02/2020



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      10 - 40 mg/dL
      * Fuente: PNT, Insert
     
      Delivery term: 1 days
     
     
      Version of Test: 9
     

           
      24.3 - 53.3 mg/dL   
     

      Delivery term: 2 days
     
     
      Version of Test: 10
     

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BRAF (V600E) screening, tissue

Description and Delivery Time Modification

Test code: 3788

Effective update from 21/02/2020




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   BRAF (V600E) screening, tissue     
     

   Delivery term: 15 days
     
     
      Version of Test: 5
     

        
   BIOMARKERS IN SOLID TUMORS  · BRAF(V600X) · 
   HOT SPOT   
     
   Delivery term: 9 days
     
     
      Version of Test: 6
     

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Polycystic Kidney Disease, panel (6 genes) NGS, biological sample

Description, Studied Genes and Delivery Time Modification

Test code: 7413

Effective update from 21/02/2020




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Polycystic Kidney Disease, panel (6 genes) NGS, biological sample     


Studied Genes
     
PKD1, PKD2, PKHD1, BICC1, HNF1B, NOTHC2

Delivery Term: 57 days

      Version of Test: 14
     

        
POLYCYSTIC KIDNEY DISEASE · PANEL B · NGS  


Studied Genes

BICC1 , GANAB, HNF1B, NOTCH2, PKD1, PKHD1, PKD2       

Delivery Term: 42 days
     
      Version of Test: 15
     

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