Wednesday, October 31, 2018

Gaucher, disease (N370S,L444P,R463C,84GG,IVS2+1 - GBA) screening, whole blood

Delivery time Modification

Test code: 1671

Effective update from 07/11/2018



PREVIOUS

NEW
        
     Delivery time: 27 days

              
         Delivery time: 22 days
   Find the record of the test by clicking here

Tuesday, October 30, 2018

Mycobacterium spp, DNA, biological sample

Description, Reference values, Method and Delivery Time Modification

Test code: 1442

Effective update from 31/10/2018




PREVIOUS

NEW
 Mycobacterium spp, DNA, biological sample      
     
Not detected.
     
      Sensitivity of the test 84% and Specificity 94%.
     
Method: Nucleic acid hybridation     

Delivery term: 7 days
     

Mycobacterium spp DNA detection, biological sample 

Not detected.       
         
         
   
      
Method: Real-Time PCR

Delivery term: 5 days
     




   Find the record of the test by clicking here

Mycobacterium spp DNA Identification, biological sample

New Test in NOÛS Catalog
Test Code: 7954
Sample:
Biological Sample
Conservation:
Frozen
Method:
Nucleic acid hybridation
Set Up Days:
Daily
Delivery term:
6 days
Information:
The test 1442-Mycobacterium spp DNA detection, biological sample, must be previously requested. This test allows the identification of the following species: M. tuberculosis complex, M. avium ssp., M. chelonae, M. abcessus, M. fortuitum, M. gordonae, M.intracellulare, M.scrofulaceum, M.interjectum, M. zsulgai, M. kansasii, M. malmoense, M. marinum/M. ulcerans, M. xenopi

    Find the record of the test by clicking here

Mycobacterium spp, DNA

Erased tests

Test code: 2503, 3006, 4432

Effective update from 31/10/2018

ERASED TESTS:

2503Mycobacterium tuberculosis, DNA, biological sample
3006- Mycobacterium tuberculosis, DNA, culture
4432- Mycobacterium spp, DNA (atypical), biological sample

ALTERNATIVE TESTS:

1442- Mycobacterium spp DNA Detection, biological sample
7954- Mycobacterium spp DNA Identification, biological sample

STREPTOCOCCUS PNEUMONIAE ANTIGEN , URINE

Sample and Description Modification

Test code: 3023

Effective update from 02/11/2018




PREVIOUS

NEW
        
 STREPTOCOCCUS PNEUMONIAE ANTIGEN, URINE
       
SAMPLE: URINE
        
 STREPTOCOCCUS PNEUMONIAE ANTIGEN, BIOLOGIC SAMPLE

SAMPLE: URINE, CSF
     

   Find the record of the test by clicking here

T4 ANTIBODIES, SERUM

Reference values and Delivery Time Modification

Test code: 1250

Effective update from 02/11/2018




PREVIOUS

NEW
        
      Less than 7%

      Delivery term: 23 days
     

        
     Less than 10%

     Delivery term: 12 days       
         

   Find the record of the test by clicking here

Monday, October 29, 2018

Bartter Syndrome, type 3 (CLCNKB) sequencing, whole blood

Delivery Time Modification

Test code: 4016

Effective update from 02/11/2018



PREVIOUS

NEW
        
          
      Delivery term: 60 days
     

         
     
      Delivery term: 32 days
     

   Find the record of the test by clicking here

Friday, October 26, 2018

Plasmodium DNA, total blood

Reference values Modification

Test code: 2964

Effective update from 26/10/2018



PREVIOUS

NEW
        
      Not detected
     
Methodology:
DNA was extracted from biological sample, using automatic system MagNA Pure (Roche Diagnostic)// Danagene Spin DNA Isolation Kit (Dana Gen-BioTed).
Amplification by SnM-PCR (Seminested-Multiplex Malaria PCR) was performed with specific primers for Plasmodium ovale, P. vivax, P. falciparum and P. malariae (J. Clin. Microbiol. 37(10), 3260-3264, 1999). The amplified fragment was checked by agarose gel with ethidium bromide staining.
Amplification of the Factor V gene has been carried out as an extraction and amplification control.

The results of this test are only for the teste sample.

        
      Not detected
     

   Find the record of the test by clicking here

Leptospira spp, DNA, biological sample

Reference values Modification

Test code: 3680

Effective update from 26/10/2018



PREVIOUS

NEW
        
      NEGATIVE
     
Methodology:
DNA was extracted from blood using automatic system MagNA Pure (Roche Diagnostic).

Amplification by nested-PCR was performed with specific and generic primers for lipL32 gene of Leptospira. The amplified fragment (316 bp in first amplification and 186 pb in the second) was checked by agarose gel with ethidium bromide staining.
Amplification of the Factor V gene has been carried out as an extracion and aplification control.


The results of this test are only for the tested sample. 

        
      NEGATIVE
         

   Find the record of the test by clicking here

Rotavirus (RV) RNA, biological sample

Reference values Modification

Test code: 1570

Effective update from 26/10/2018



PREVIOUS

NEW
        
      Not detected
     
Methodology used:
Reverse transcription of RNA and subsequent amplification of complementary DNA (cDNA) using specific primers of the VP7 and VP4 genes of Rotavirus. Detection by visualization in agarose gel after staining with ethidium bromide.

The results collected in this report refer only to the sample tested.


        
      Not detected
         

   Find the record of the test by clicking here

Cytomegalovirus (CMV), resistence2 (UL7, UL5') screening, total blood

Reference values Modification

Test code: 4345

Effective update from 26/10/2018


PREVIOUS

NEW
        
      Not detected
     
Methodology used:
Biological sample's DNA extracted by using automatic system MagNA Pure (Roche Diagnostic).
Detection of Cytomegalovirus by PCR and subsequent amplification of regions UL97 and UL54, according to Mendez et al. protocol and Boivin et al. (J. M. Virology, 2005).
Two-way sequencing of the amplification products obtained from the regions UL97 (Aas 462-664) and UL54 (Aas 363-993) by automatic sequencer ABI 3130XL from Applied Biosystem. Analysis of DNA sequences Polymerase and CMV phosphotransferase using SeqScape v2.5 software and the Mutation Analyzer bioinformatics tool.
Amplification of a FV fragment as internal control for extraction and amplification.
The results collected in this report only refer to the sample tested.
Bibliography:
1. Chou, S., Ercolani, R. J. & Vanarsdall, A. L. Differentiated Levels of Ganciclovir Resistance Conferred
by Mutations at Codons 591 to 603 of the Cytomegalovirus UL97 Kinase Gene. J. Clin. Microbiol. 55,

2098–2104 (2017).
        
      Not detected
         

   Find the record of the test by clicking here

Thursday, October 25, 2018

Notice: Festivity 1st November

Notice: Festivity 1st November

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 1st November.

Telomeric longitude

    We cannot receive samples from 31st October to 4th November.

Prenatal Extended Panel

 
 We cannot receive samples from 
from 29th October to 2nd November.

Neobona


 We cannot receive samples on 1st November.



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.

Wednesday, October 24, 2018

FIBRINOGEN, PLASMA

Reference values Modification

Test code: 168

Effective update from 24/10/2018



PREVIOUS

NEW
        
      
          Reference values: 200-400 mg/L
     

        
         
          Reference values: 200-400 mg/dL
     
         

   Find the record of the test by clicking here

GLIOMAS - ATRX - SEQUENCING

New Test in NOÛS Catalog
Test Code: 7952
Sample:
Tissue
Conservation:
Room temperature
Method:
Sequencing Method
Set Up Days:
Daily
Delivery term:
17 days
Information:

    Find the record of the test by clicking here

Postnatal Array Studies Update: Change of methodology and new test


Effective update from 30/10/2018

We proceed to replace the platform used in 750k postnatal Array study. Therefore, array CGH methodology will be replaced by Array SNPs methodology and we are also creating a new test: 850k Postnatal Array.

Modified and newly created tests have the following characteristics:

3994 - 750K postnatal Array, whole blood
Method: Array (SNPs)
Sample: Whole blood - EDTA
Preanalytical conditions: Refrigerated (store at 4ºC). Clinical information required (including a copy of the family index case report if available) and informed consent..
Delivery time: 20 days

New test created:

7950 - 850K postnatal Array, whole blood
Method: Array (SNPs)
Sample: Whole blood - EDTA
Preanalytical conditions: Refrigerated (store at 4ºC). Clinical information required (including a copy of the family index case report if available) and informed consent.
Delivery time: 20 days

    This change is part of laboratory progress policy, incorporating the following improvements:

ü       They are made with the same platform that contains 850,000 SNPs with 15x redundancy of each SNP and the bioinfomatic analysis
  is adapted
 according to the selected array resolution.
ü         Detection of microdeletion / microduplication syndromes with enriched coverage for more than 3,200 known genetic diseases.
ü         Detection of regions of homozygosity (ROH) for uniparental isodisomy (UPD).
ü         Detection of triploidy.
ü         High detection sensitivity for low level mosaics.
ü         Improvement of the delivery time: 20 working days.


Tuesday, October 23, 2018

Van der Woude Syndrome (IRF6) sequencing, total blood

Delivery Time Modification

Test code: 1119

Effective update from 30/10/2018



PREVIOUS

NEW
        
     
     
      Delivery term: 40 days
     

        
         
     
      Delivery term: 32 days
     

   Find the record of the test by clicking here