Friday, September 28, 2018

Biotinidase Deficiency (BTD) NGS, total blood

Description and Method Modification

Test code: 4155

Effective update from 28/09/2018



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NEW

Biotinidase Deficiency (BTD) NGS, total blood       
     
Method: NGS
  
Biotinidase Deficiency (BTD) sequencing, total blood      
         
Method: Sequencing Method

   Find the record of the test by clicking here

Thursday, September 27, 2018

Prader Willi / Angelman Syndrome: deletions-duplications (MS-MLPA), total blood

Erased test

Test code: 2982

Effective update from 01/10/2018


Alternative test:

7809- PRADER-WILLI (PW) SYNDROME - MS-MLPA
7810- ANGELMAN (AS) SYNDROME - MS-MLPA
   Find the record of the test by clicking here

Restrictions for samples reception 12th October

Notice: Festivity 12th October

In these most committed dates and, due to perserve the stability of the samples, we recommend to consider the following information:


TEST
NO SAMPLES WILL BE RECEIVED
Autologous Serum

    We cannot receive samples on 12th October.

Telomeric longitude

    We cannot receive samples from 11th to 13th October.

Prenatal Extended Panel


  We cannot receive samples from from 10th to 13th October.





After this period, the reception of samples will be normalized to the days established for these tests.

There may be changes in the processing dates of some tests, respecting the maximum delivery deadline.

The delivery time is maintained in those test that, due to their characteristics, require urgent processing.

Tuesday, September 25, 2018

PORPHYRIAS - PANEL - NGS

Delivery Time Modification

Test code: 7894

Effective update from 28/09/2018



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NEW
        
     
     
            Delivery term: 52 days
     

        
         
     
             Delivery term: 42 days
     

   Find the record of the test by clicking here

SYNDROMIC AND NON SYNDROMIC HEREDITARY DEAFNESS - PANEL - NGS

Delivery Time Modification

Test code: 7883

Effective update from 28/09/2018



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NEW
        
     
     
             Delivery term: 57 days
     

        
         
     
            Delivery term: 42 days
     

   Find the record of the test by clicking here

ANTI - BARRIER (CHANNEL VOLTAGE) ANTIBODIES OF CACIUM, SERUM

Reference values, Method and Delivery Time Modification

Test code: 7001

Effective update from 28/09/2018



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NEW
        
      Less or equal than 30 pmol/L
     
      Method: Immunoradiometric assay
     
      Delivery term: 30 days
     

        
     Less or equal than 40 pmol/L   
         
     Method: Radioimmunoprecipitation assay

     Delivery term: 8 days
     

  Find the record of the test by clicking here

AUTISM - PAINEL - NGS

New Test in NOÛS Catalog
Test Code: 7940
Sample:
Biological Sample
Conservation:
Refrigerated
Method:
Next Generation Sequencing (NGS)
Set Up Days:
Daily
Delivery term:
42 days
Information:

    Find the record of the test by clicking here

PROTEIN ELECTROPHORESIS, URINE

Delivery Time Modification

Test code: 702

Effective update from 27/09/2018



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NEW
        
  Delivery term: 3 days
     
        
 Delivery term: 6 days
     

   Find the record of the test by clicking here

Protein electrophoresis, urine

Delivery Time Modification

Test code: 4676

Effective update from 27/09/2018



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NEW
        
  Delivery term: 3 days
     
        
  Delivery term: 6 days
     
   Find the record of the test by clicking here

THROMBOINCODE, whole blood

Erased test

Test code: 4498

Effective update from 26/092018

Alternative test: 7820- TROMBOFILIA PROFILE

   Find the record of the test by clicking here

Adrenoleukodystrophy (ABCD1) sequencing, total blood

Delivery Time Modification

Test code: 3647

Effective update from 25/09/2018


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NEW
        

   Delivery term: 40 days
     

        
         
   Delivery term: 32 days
     

   Find the record of the test by clicking here

Friday, September 21, 2018

NETHERTON SYNDROME - SPINK5 - SEQUENCING

New Test in NOÛS Catalog
Test Code: 7937
Sample:
Biological Sample
Conservation:
Refrigerated
Method:
Sequencing Method
Set Up Days:
Daily
Delivery term:
32 days
Information:

    Find the record of the test by clicking here

PARKINSON DISEASE - SNCA (PARK1) - MLPA

New Test in NOÛS Catalog
Test Code: 7938
Sample:
Biological Sample
Conservation:
Refrigerated
Method:
Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:
Daily
Delivery term:
22 days
Information:

    Find the record of the test by clicking here

Wednesday, September 19, 2018

Krabbe Syndrome (exons , 1'-16-GALC) screening, total blood

Erased test

Test code: 1770

Effective update from 19/09/2018



   Find the record of the test by clicking here

Tuesday, September 18, 2018

Incontinentia pigmenti (IKBKG), Frequent DEL/INS (Q-PCR), biological sample

Erased test

Test code: 7440

Effective update from 25/09/2018




Alternative test: 7933-INCONTINENCIA PIGMENTI - IKBKG (NEMO) - MLPA

   Find the record of the test by clicking here

INCONTINENCIA PIGMENTI - IKBKG (NEMO) - MLPA

New Test in NOÛS Catalog
Test Code: 7933
Sample:
Biological Sample
Conservation:
Refrigerated
Method:
Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:
Daily
Delivery term:
22 days
Information:

    Find the record of the test by clicking here

Monday, September 17, 2018

8-OH-GUANOSINE, URINE

Description Modification

Test code: 3154

Effective update from 18/09/2018



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NEW
        
      8-OH-GUANOSINE, URINE
     

        
         8-HYDROXY-2'-DEOXYGUANOSINE, URINE
         

   Find the record of the test by clicking here

Friday, September 14, 2018

INTERLEUKIN 8 (IL 8) , SERUM

Delivery Time Modification

Test code: 4224

Effective update from 18/09/2018



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NEW
        
    
     
             Delivery term: 60 days
     

        
         
             
           Delivery term: 122 days
     

   Find the record of the test by clicking here

Multiple Endocrine Neoplasia type ', MEN' (exons 1, 2-CDKN1B) screening, total blood

Description and Delivery Time Modification

Test code: 4137

Effective update from 19/09/2018



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NEW
        
     Multiple Endocrine Neoplasia type ', MEN' (exons 1, 2-CDKN1B) screening, total blood
     
             Delivery term: 23 days
     

        
      MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 - CDKN1B - SEQUENCING   
     
           Delivery term: 32 days
     

   Find the record of the test by clicking here

Wednesday, September 12, 2018

GLUCOSAMINOGLYCANE TYPIFICATION, URINE

Delivery Time Modification

Test code: 4912

Effective update from 13/09/2018



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NEW
        
     
     
            Delivery term: 25 days
     

        
         
     
              Delivery term: 30 days
     

   Find the record of the test by clicking here

Monday, September 10, 2018

Dentatorubral-pallidoluysian Atrophy, DRPLA (ATN1) screening, total blood

Description Modification

Test code: 7084

Effective update from 13/09/2018



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NEW
        
Dentatorubral-pallidoluysian Atrophy, DRPLA (ATN1) screening, total blood

        
Dentatorubral-pallidoluysian atrophy (DRPLA) - ATN1 - triplet expansion
         
         

   Find the record of the test by clicking here

Delivery time Modification

Delivery time Modification

Test code: 1375, 4196, 4257, 7084

Effective update from 13/09/2018



TEST
PREVIOUS
NEW
  1375 - Primary Hyperoxaluria type 1 (33-34insC, 454A, 508A,731C-AGXT) screening, total blood30 days  22 days
  4196 - Polycystic Kidney Disease, (exons 32, 35-PKHD1) screening, total blood32 days  22 days  
  4257 - Multi-drug resistance, MDR1 (C3'35T-ABCB1) polymorphism, total blood32 days   22 days   
  7084 - Dentatorubral-pallidoluysian Atrophy, DRPLA (ATN1) screening, total blood30 days   22 days