MODY TYPE I, II, III, V SYNDROME · MLPA

New Test in NOÛS Catalog

Test Code: 9901

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	22 days

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ANALYSIS, INTERPRETATION AND REPORT PANEL NGS +500 GENES

New Test in NOÛS Catalog

Test Code: 9899

Sample:	Biological Sample
Conservation:
Method:	Bioinformatics Pipeline
Set Up Days:	Daily
Delivery term:	17 days

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CHARCOT-MARIE-TOOTH DISEASE TYPE 2S · IGHMBP2 · MLPA

New Test in NOÛS Catalog

Test Code: 9900

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	24 days

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ANALYSIS, INTERPRETATION AND REPORT PANEL NGS 51 - 500 GENES

New Test in NOÛS Catalog

Test Code: 9898

Sample:	Biological Sample
Conservation:
Method:	Bioinformatics Pipeline
Set Up Days:	Daily
Delivery term:	17 days

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ANALYSIS, INTERPRETATION AND REPORT PANEL NGS 3 - 50 GENES

New Test in NOÛS Catalog

Test Code: 9897

Sample:	Biological Sample
Conservation:
Method:	Bioinformatics Pipeline
Set Up Days:	Daily
Delivery term:	17 days

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ANALYSIS, INTERPRETATION AND REPORT PANEL NGS 1 - 2 GENES

New Test in NOÛS Catalog

Test Code: 9896

Sample:	Biological Sample
Conservation:
Method:	Bioinformatics Pipeline
Set Up Days:	Daily
Delivery term:	17 days

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MYELOFIBROSIS GIPSS SCORE · PANEL ��NGS

New Test in NOÛS Catalog

Test Code: 9893

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	12 days
Information:

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CHRONIC MYELOMONOCYTIC LEUKEMIA CPSS-MOL SCORE · PANEL · NGS

New Test in NOÛS Catalog

Test Code: 9892

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	12 days
Information:

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ACUTE MYELOID LEUKEMIA AT DIAGNOSIS · PANEL · NGS

New Test in NOÛS Catalog

Test Code: 9891

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	12 days
Information:

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Mycoplasma pneumoniae IgG antibodies, CSF

Reference values Modification

Test code: 5314

Mnemonic code: Not apply

Effective update from 04/09/2023

PREVIOUS	NEW
Negative : Less than 10 U. arb/mL       Grey Zone: 10 - 20 U. arb/mL       Positive : Greater than 20 U. arb/mL       * Fuente: PNT, Insert             Version of Test: 10	No reference values available.      Assess clinical criteria.                                                Version of Test: 11

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Mycoplasma pneumoniae IgM antibodies, CSF

Units and Reference values Modification

Test code: 5316
Mnemonic code: MYMCR

Effective update from 04/09/2023

PREVIOUS	NEW
Units: U. arb./mL       Reference Values:       Negative : Less than 10 U. arb./mL       Grey Zone: 10 - 20 U. arb./mL       Positive : Greater than 20 U. arb./mL                               Version of Test: 9	Units: Index       Reference Values:       No reference values available.       Assess clinical criteria.                           Version of Test: 10

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PROXIMAL MYOPATHY WITH EARLY RESPIRATORY FAILURE · TTN · NGS

New Test in NOÛS Catalog

Test Code: 9890

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	32 days

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EARLY ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY · TTN · NGS

New Test in NOÛS Catalog

Test Code: 9889

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	32 days

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FINNISH TIBIAL MUSCULAR DYSTROPHY · TTN · NGS

New Test in NOÛS Catalog

Test Code: 9888

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	32 days

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LIMG-GIRDLE MUSCULAR DYSTROPHY TYPE 2J · TTN · NGS

New Test in NOÛS Catalog

Test Code: 9887

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	32 days

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DILATED CARDIOMYOPATHY TYPE 1G · TTN · NGS

New Test in NOÛS Catalog

Test Code: 9886

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	32 days

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CONSTITUTIONAL STUDY · ONE PROBE · FISH

Description Modification

Test code: 8925

Mnemonic code: G00043

Effective update from 04/09/2023

PREVIOUS	NEW
CONSTITUTIONAL STUDY · ONE PROBE · FISH             Version of Test: 11	ONCOHEMATOLOGY/CONSTITUTIONAL STUDY · ONE PROBE · FISH                Version of Test: 12

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TOBRAMYCIN, SERUM

Description, Method and Delivery Time Modification

Test code: 2549

Mnemonic code: TOBR

Effective update from 21/08/2023

PREVIOUS	NEW
TOBRAMYCIN, SERUM Method: Fluorescence polarization immunoassay          Units: µg/mL        Delivery term: 4 days Version of Test: 11	TOBRAMYCIN, PLASMA                   Method: Cloned enzyme donor immmunoassay (CEDIA)  Units: mg/L        Delivery term: 5 days       Version of Test: 12

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Sotos Syndrome (NSD1) MLPA, total blood

Description, Studied genes and Delivery Time Modification

Test code: 1158
Mnemonic code: G03075

Effective update from 28/08/2023

ANTERIOR	ACTUAL
Description: Sotos Syndrome (NSD1) MLPA, total blood       Genes: NSD1       Delivery time: 25 days             Version of Test: 4	Description: SOTOS 1 AND 2, SYNDROME OF · NSD1, NFIX · MLPA                 Genes: NSD1, NFIX       Delivery time: 22 days       Version of Test: 5

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ORTHOCRESOL, URINE

Method Modification

Test code: 2991

Mnemonic code: OCOR

Effective update from 21/08/2023

PREVIOUS	NEW
Gas Chromatography	High Performance Liquid Chromatography

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MOLECULAR STUDY GENOTYPE HLA-DPB1 (high resolution), whole blood

New Test in NOÛS Catalog

Test Code: 9884

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	PCR-SSO
Set Up Days:	Daily
Delivery term:	15 days

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IgE SPECIFIC ANTIBODIES FOR ZINC (c648), SERUM

Delivery Time Modification

Test code: 6293

Mnemonic code: C648

Effective update from 14/08/2023

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

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ANTI - SPERM ANTIBODIES, SERUM

Reference values and Sample (National) Modification 

Test code: 359

Mnemonic code: ESPER

Effective update from 21/08/2023

PREVIOUS	NEW
Reference Values:                Negative: Less or equal than 60 U/mL       Positive: Greater than 60 U/mL       * Fuente: PNT, Insert Sample: Refrigerated Serum         Version of Test: 7	Reference Values:                Negative: Less than 75 U/mL       Positive: Greater than or equal to 75 U/mL       * Fuente: PNT, Insert Sample: Frozen Serum                  Version of Test: 8

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ASIALOGLYCOPROTEIN RECEPTOR ANTIBODY (Anti-ASGPR), SERUM

Sample Modification (National only)

Test code: 3568

Mnemonic code: ACRASG

Effective update from 21/08/2023

PREVIOUS	NEW
Refrigerated Serum	Frozen Serum

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ANTI MUSK (MUSCLE SPECIFIC KINASE) AUTOANTIBODIES, SERUM

Method, Units, Reference values and Sample (Natioal) Modification

Test code: 3384

Mnemonic code: MUSK

Effective update from 21/08/2023

PREVIOUS	NEW
Method: Radioimmunoassay Units: nmol/L Reference Values:                Less than 0,05 nmol/L       * Fuente: PNT, Insert Sample:      Frozen Serum (Stability 1 month)       Version of Test: 16	Method: Enzymeimmunoassay Units: U/mL Reference Values:     Negative: Less than 0.40 U/mL     Positive: Greater than or equal to 0.40 U/mL     * Source: PNT, Insert Sample:      Refrigerated Serum (Stability 1 week)     Frozen Serum (Stability 6 months)                 Version of Test: 17

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