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

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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

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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

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Mycobacterium spp, DNA

Erased tests

Test code: 2503, 3006, 4432

Effective update from 31/10/2018

ERASED TESTS:

2503- Mycobacterium 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

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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

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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

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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

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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

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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

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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

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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.

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

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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:

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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.

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

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