Bleeding disorders, panel (34 genes) NGS, whole blood

Description, Studied Genes Modification

Test code: 4784

Effective update from 03/06/2019

PREVIOUS	NEW
Bleeding disorders, panel (34 genes) NGS, whole blood               Studied genes: ANO6, AP3B1, BLOC1S3, DTNBP1, F10, F11, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LMAN1, MCFD2, P2RY12, SERPINE1, SERPINF2, TBXA2R, VWF              Version of Test: 5	Bleeding disorders, panel (35 genes) NGS, whole blood                   Studied genes: ANO6, AP3B1, BLOC1S3, DTNBP1, F10, F11, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LMAN1, MCFD2, P2RY12, SERPINE1, SERPINF2, TBXA2R, VWF, F12             Version of Test: 6

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MAYARO VIRUS ANTIBODIES IgG + IgM, SERUM

New Test in NOÛS Catalog

Test Code: 8118

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	Indirect fluorescent antibody
Set Up Days:	Daily
Delivery term:	12 days

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Lateral Temporal Lobe Epilepsy (LGI1) NGS, whole blood

Description, method and Delivery time Modification

Test code: 3641

Effective update from 30/05/2019

PREVIOUS	NEW
Lateral Temporal Lobe Epilepsy (LGI1) NGS, whole blood       NExt Generation Sequencing (NGS) Delivery term: 22 days	FAMILIAL TEMPORAL LOBE EPILEPSY · LGI1 · SANGER Sanger sequencing Delivery term: 32 days

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PYRUVIC ACID- PLASMA

Reference values Modification

Test code: 268

Effective update from 30/05/2019

PREVIOUS	NEW
0.3 - 0.7 mg/dL       * Fuente: PNT, Insert             Version of Test: 13	0.3 - 0.9 mg/dL                   Version of Test: 14

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G-6-PD (GLUCOSE- 6 -PHOSPHATE DEHYDROGENASE), WHOLE BLOOD

Reference values Modification

Test code: 369

Effective update from 30/05/2019

PREVIOUS	NEW
7-20.5 UI/g Hb       * Fuente: PNT, Insert             Version of Test: 16	7.9-16.3 UI/g Hb                          Version of Test: 17

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Legionella pneumophilla DNA, biological sample

Sample Modification

Test code: 2670

Effective update from 28/05/2019

PREVIOUS

NEW

Frozen: bronchoalveolar lavage fluid, tracheal washings, urine, synovial fluid, serum. Refrigerated: Whole blood EDTA (1 week)

· Contaminated respiratory secretions: expectorated sputum and samples of the lower respiratory tract contaminated with microbiota of the upper respiratory tract, such as aspirates, washes or bronchial brushing. · Non-contaminated respiratory secretions: uncontaminated lower respiratory tract samples. · Tissues: lung tissue obtained by biopsy or necropsy, or tissue from other organs. · Other less frequent samples: pleural fluid, cerebrospinal fluid (CSF) or blood (do not freeze).     Plasma or serum samples are not accepted.

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SRY (detection) QF-PCR, whole blood

Erased test

Test code: 5400

Effective update from 29/05/2019

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Huntington Disease (IT15) screening, prenatal/total maternal blood sample

Erased test

Test code: 1294

Effective update from 27/05/2019

ALTERNATIVE TEST:

2906 - Huntington Disease - HTT - triplet expansion

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Kpa Kpb ANTIGEN TYPING, WHOLE BLOOD

New Test in NOÛS Catalog (ONLY NATIONAL SHIPMENTS)

Test Code: 8103

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Hemagglutination
Set Up Days:	Daily
Delivery term:	3 days
Information:
Determination of the following erythrocyte antigens:ABO Rh, Rh D, Rh C, Rh c, Rh E, Rh e, Kell, Cellano, Fya, Fyb, Jka, Jkb, Lea, Leb, P1, M, N, S, s.

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Williams Syndrome (ELN/LIMK1/locus D7S613) MLPA, total blood

Reference values, Description and Delivery time Modification

Test code: 3654

Effective update from 29/05/2019

PREVIOUS	NEW
Williams Syndrome (ELN/LIMK1/locus D7S613)     MLPA, total blood              NEGATIVE           DELIVERY TERM: 12 dias               Version of Test: 1	WILLIAMS SYNDROME · 7q11.23 · MLPA              Indicated in the attached report.                  DELIVERY TERM: 20 dias             Version of Test: 2

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HOMOCYSTEINE , PLASMA

Reference values Modification

Test code: 2140

Effective update from 29/05/2019

PREVIOUS	NEW
Younger than 15 years: Less than 10 µmol/L         15-65 years: Less than 15 µmol/L         Older than 65 years: Less than 20 µmol/L         * Fuente: PNT, Insert             Version of Test: 7	Younger than 10 years: Less than 10 µmol/L         10-65 years: Less than 15 µmol/L         Older than 65 years: Less than 20 µmol/L                     Version of Test: 8

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Fragile-X Syndrome type E, FRAXE (FMR2) screening, total blood

Reference values and Delivery Time Modification

Test code: 1427

Effective update from 29/05/2019

PREVIOUS	NEW
Fragile-X Syndrome type E, FRAXE (FMR2) screening, total blood         DELIVERY TERM: 35 days               Version of Test: 5	INTELLECTUAL DISABILITY ASSOCIATED WITH FRAGILE SITE FRAXE · FMR2 · FRAGMENT ANALYSIS           DELIVERY TERM: 22 days       Version of Test: 6

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RICKETTSIAS DNA, BIOLOGICAL SAMPLE

Reference values Modification

Test code: 3649

Effective update from 27/05/2019

PREVIOUS	NEW
NEGATIVE            Version of Test: 15	Not detected                         Version of Test: 16

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Delivery Time Modification

Test code: 4813; 4814; 4815; 4816; 4817; 4818; 4819; 4822; 4862; 4894; 4895; 4896; 4897; 4898; 4899; 5558

Effective update from 27/05/2019

DESCRIPTION	PREVIOUS (days)	NEW (days)
4813 - FG Onco Lapatinib, biological sample	20	12
4814 - FG Onco Methotrexate, biological sample	20	12
4815 - FG Onco Irinotecan, biological sample	20	12
4816 - FG Onco Thiopurines, biological sample	20	12
4817 - FG Onco Cisplatin, biological sample	20	12
4818 - FG Onco Tamoxifen, biological sample	20	12
4819 - FG Onco 5-fluorouracil (Capecitabine), biological sample	20	12
4822 - FG Neuro Depressio	30	22
4862 - FG Neuro Psychosis	30	22
4894 - FG Cardio Arrhythmia	30	22
4895 - FG Cardio Hypertension	30	22
4896 - FG Cardiovascular	30	22
4897 - FG Cardio	30	22
4898 - FG Neuro Anxiety and Insomnia	30	22
4899 - FG Neuro Epilepsias	30	22
5558 - FG BASIC (CYP450), biological sample	30	22

INTERFERON GAMMA (QUANTIFERON TB), PLASMA

Description Modification

Test code: 3147

Effective update from 27/05/2019

PREVIOUS	NEW
INTERFERON GAMMA (QUANTIFERON TB), PLASMA             Version of Test: 11	QUANTIFERON TB GOLD (INTERFERON GAMMA)                 Version of Test: 12

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ANGIOTENSIN CONVERTING ENZYME (ACE), CSF

Reference values Modification

Test code: 3365

Effective update from 27/05/2019

PREVIOUS	NEW
Less than 2.5 U/L       * Fonte: Bula do fabricante             Version of Test: 11	Less than 6.0 U/L                       Version of Test: 12

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THIOPURINE-TRANSFERASE (TPMT), WHOLE BLOOD

Reference values Modification

Test code: 3194

Effective update from 27/05/2019

PREVIOUS	NEW
TPMT ACTIVITY RECOMMENDED AZOTHIOPRIN       Inf. a 5 U/mL No administrar       5 - 13.7 U/mL 0.5 mg/Kg/day       13.8 - 18 U/mL 1.5 mg/Kg/day       18.1 - 26 U/mL 2.5 mg/Kg/day       26.1 - 40 U/mL 3.0 mg/Kg/day                    Version of Test: 8	TPMT ACTIVITY RECOMMENDED AZOTHIOPRIN    Less than 5 U/mL Do not take it       5 - 13.7 U/mL  0.5 mg/Kg/day       13.8 - 18 U/mL 1.5 mg/Kg/day       18.1 - 26 U/mL 2.5 mg/Kg/day Greater than 26 U/mL 3.0 mg/Kg/day                    Version of Test: 9

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