Biotinidase Deficiency (BTD) NGS, total blood

Description and Method Modification

Test code: 4155

Effective update from 28/09/2018

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

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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

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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.

PORPHYRIAS - PANEL - NGS

Delivery Time Modification

Test code: 7894

Effective update from 28/09/2018

PREVIOUS	NEW
Delivery term: 52 days	Delivery term: 42 days

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SYNDROMIC AND NON SYNDROMIC HEREDITARY DEAFNESS - PANEL - NGS

Delivery Time Modification

Test code: 7883

Effective update from 28/09/2018

PREVIOUS	NEW
Delivery term: 57 days	Delivery term: 42 days

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

Reference values, Method and Delivery Time Modification

Test code: 7001

Effective update from 28/09/2018

PREVIOUS	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

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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:

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PROTEIN ELECTROPHORESIS, URINE

Delivery Time Modification

Test code: 702

Effective update from 27/09/2018

PREVIOUS	NEW
Delivery term: 3 days	Delivery term: 6 days

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Protein electrophoresis, urine

Delivery Time Modification

Test code: 4676

Effective update from 27/09/2018

PREVIOUS	NEW
Delivery term: 3 days	Delivery term: 6 days

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THROMBOINCODE, whole blood

Erased test

Test code: 4498

Effective update from 26/092018

Alternative test: 7820- TROMBOFILIA PROFILE

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Adrenoleukodystrophy (ABCD1) sequencing, total blood

Delivery Time Modification

Test code: 3647

Effective update from 25/09/2018

PREVIOUS	NEW
Delivery term: 40 days	Delivery term: 32 days

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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:

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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:

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

Erased test

Test code: 1770

Effective update from 19/09/2018

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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

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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:

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8-OH-GUANOSINE, URINE

Description Modification

Test code: 3154

Effective update from 18/09/2018

PREVIOUS	NEW
8-OH-GUANOSINE, URINE	8-HYDROXY-2'-DEOXYGUANOSINE, URINE

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INTERLEUKIN 8 (IL 8) , SERUM

Delivery Time Modification

Test code: 4224

Effective update from 18/09/2018

PREVIOUS	NEW
Delivery term: 60 days	Delivery term: 122 days

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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

PREVIOUS	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

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GLUCOSAMINOGLYCANE TYPIFICATION, URINE

Delivery Time Modification

Test code: 4912

Effective update from 13/09/2018

PREVIOUS	NEW
Delivery term: 25 days	Delivery term: 30 days

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

Description Modification

Test code: 7084

Effective update from 13/09/2018

PREVIOUS	NEW
Dentatorubral-pallidoluysian Atrophy, DRPLA (ATN1) screening, total blood	Dentatorubral-pallidoluysian atrophy (DRPLA) - ATN1 - triplet expansion

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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 blood	30 days	22 days
4196 - Polycystic Kidney Disease, (exons 32, 35-PKHD1) screening, total blood	32 days	22 days
4257 - Multi-drug resistance, MDR1 (C3'35T-ABCB1) polymorphism, total blood	32 days	22 days
7084 - Dentatorubral-pallidoluysian Atrophy, DRPLA (ATN1) screening, total blood	30 days	22 days