Wilson Syndrome (exons 2, 1', 18-ATP7B) screening, total blood

Erased test

Test code: 1171

Effective update from 31/08/2020

Alternative test:
8630- WILSON DISEASE · ATP7B(p.His1069Gln) · HOT SPOT

   Find the record of the test by clicking here

BREAST AND OVARIAN HEREDITARY CANCER · PALB2, RAD50, RAD51C, RAD51D · MLPA

New Test in NOÛS Catalog

Test Code: 8624

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	30 days

   Find the record of the test by clicking here

WALKER WARBURG, SYNDROME · PANEL · NGS

New Test in NOÛS Catalog

Test Code: 8625

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	42 days

   Find the record of the test by clicking here

WILSON DISEASE · ATP7B(p.His1069Gln) · HOT SPOT

New Test in NOÛS Catalog

Test Code: 8630

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Hot Spot
Set Up Days:	Daily
Delivery term:	22 days
Information:

   Find the record of the test by clicking here

DEHYDROEPIANDROSTENEDIONE (DHEA), SERUM

Reference values Modification

Test code: 332

Effective update from 26/08/2020

PREVIOUS

NEW

Boys:       6 - 9 years: 0.13 - 1.87 ng/mL       10 -11 years: 0.31 - 2.05 ng/mL       12 -14 years: 0.83 - 2.58 ng/mL             Girls:       6 - 9 years: 0.18 - 1.89 ng/mL       10 -11 years: 1.12 - 2.24 ng/mL       12 -14 years: 0.98 - 3.60 ng/mL             Adults:       Men :     1.80 - 10.9 ng/mL       Women :   1.40 - 8.71 ng/mL              * Children reference range source: Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics, 7th edition. Carl A. Burtis PhD, David E. Bruns MD.       * Adults reference range source: Data sheet supplier.                   Version of Test: 21

Boys:       6 - 9 years: 0.13 - 1.87 ng/mL       10 -11 years: 0.31 - 2.05 ng/mL       12 -14 years: 0.83 - 2.58 ng/mL             Girls:       6 - 9 years: 0.18 - 1.89 ng/mL       10 -11 years: 1.12 - 2.24 ng/mL       12 -14 years: 0.98 - 3.60 ng/mL             Adults:       Men :    1.87 - 15.01 ng/mL       Women :  1.65 - 13.50 ng/mL              * Children reference range source: Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics, 7th edition. Carl A. Burtis PhD, David E. Bruns MD.       * Adults reference range source: Data sheet supplier.                   Version of Test: 22

   Find the record of the test by clicking here

Clostridium difficile (toxin B) DNA, stool

Delivery Time Modification

Test code: 4778

Effective update from 26/08/2020

PREVIOUS	NEW
Delivery term: 3 days	Delivery term: 5 days

   Find the record of the test by clicking here

LEPTIN, SERUM

Delivery Time Modification

Test code: 3120

Effective update from 26/08/2020

PREVIOUS	NEW
Delivery term: 5 days	Delivery term: 7 days

   Find the record of the test by clicking here

VASCULAR ENDOTHELIAL GROWTH FACTOR TYPE D (VEGF-D), PLASMA

New Test in NOÛS Catalog

Test Code: 8628

Sample:	Plasma - EDTA (2 ml)
Conservation:	Frozen
Method:	Enzyme Immunoassay
Set Up Days:	Daily
Delivery term:	24 days

   Find the record of the test by clicking here

VASCULAR ENDOTHELIAL GROWTH FACTOR (VEGF), PLASMA

Description, Reference values Modification

Test code: 1232

Effective update from 31/08/2020

PREVIOUS	NEW
VASCULAR ENDOTHELIAL GROWTH        FACTOR (VEGF), PLASMA            Plasma EDTA: Less than 128.9 pg/ml             Version of Test: 16	VASCULAR ENDOTHELIAL GROWTH FACTOR        TYPE A(VEGF-A), PLASMA            Less than 129 pg/ml             Version of Test: 17

   Find the record of the test by clicking here

CARNITINE, TOTAL/FREE (L-CARNITINE) , PLASMA

Reference values and Delivery Time Modification

Test code: 2710

Effective update from 26/08/2020

PREVIOUS	NEW
FREE CARNITINE : 16 - 60 µmol/L TOTAL CARNITINE: 25 - 69 µmol/L                   Delivery term: 17                   Version of Test: 13	FREE CARNITINE : 10 - 74 µmol/L TOTAL CARNITINE: 25 - 69 µmol/L                                               Delivery term: 11                   Version of Test: 14

   Find the record of the test by clicking here

Pyruvate Dehydrogenase Deficiency (exons 6-11-PDHA1) screening, total blood

Description and Delivery Time Modification

Test code: 1987

Effective update from 21/08/2020

PREVIOUS	NEW
Pyruvate Dehydrogenase Deficiency (exons 6-11-PDHA1) screening, total blood   Delivery time: 27 days                    Version of Test: 2	PYRUVATE DEHYDROGENASE E1-ALPHA, DEFICIENCY  · PDHA1 · SANGER                Delivery time: 30 days            Version of Test: 3

   Find the record of the test by clicking here

Congenital Adrenal Hyperplasia (CYP21A2) MLPA, whole blood

Test Description Modification

Test code: 5189

Effective update from 13/08/2020

PREVIOUS	NEW
Congenital Adrenal Hyperplasia (CYP21A2) MLPA, whole blood             Version of Test: 2	ADRENAL HYPERPLASIA DUE TO DEFICIT 21-HYDROXYLASE · CYP21A2 · MLPA                 Version of Test: 3

   Find the record of the test by clicking here

Disorders of the urea cycle, panel (ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15) NGS, whole blood

Description, Studied Genes and Delivery Time Modifications

Test code: 5429

Effective update from 11/08/2020

PREVIOUS	NEW
Description: Disorders of the urea cycle, panel (ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15) NGS, whole blood                     Delivery term: 50                   Version of Test: 2	Description: DISORDERS OF THE UREA CYCLE· PANEL· NGS   Studied Genes:  ARG1, ASL, ASS1, CPS1, GLUD1, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC7A7                        Delivery term: 40                   Version of Test: 3

   Find the record of the test by clicking here

Acetaminophen (Paracetamol), Serum

Reference values Modification

Test code: 548

Effective update from 10/08/2020

PREVIOUS	NEW
10 - 30 µg/mL       * Source: PNT, Insert             Version of Test: 9	10 - 30 µg/mL Levels over 150 µg/mL four hours after ingestion may be associated with toxic effects. Levels over 50 µg/mL at twelve hours after ingestion may be associated with toxic effects.                         Version of Test: 10

   Find the record of the test by clicking here

Lactose intolerance (lactase persistence/non-persistence) (MCM6) polymorphisms, whole blood

Delivery Time Modification

Test code: 1410

Effective update from 07/08/2020

PREVIOUS	NEW
Delivery term: 15                   Version of Test: 16	Delivery term: 20                   Version of Test: 16

   Find the record of the test by clicking here

GAD ANTIBODIES, CSF

Samples Modification

Test code: 1793

Effective update from 03/08/2020

PREVIOUS	NEW
CSF: Refrigerated                   Version of Test: 8	CSF:Frozen                       Version of Test: 9

   Find the record of the test by clicking here