Hepatitis A virus (HAV) RNA, serum

Reference values Modification

Test code: 4217

Effective update from 02/09/2019

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NEGATIVE                   Version of Test: 13	Not detected                          Version of Test: 14

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Ehlers-Danlos Syndrome, type IV (COL3A1) Deletions/duplications, MLPA, whole blood

Description, Method and Delivery Time Modification

Test code: 7371

Effective update from 30/08/2019

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Ehlers-Danlos Syndrome, type IV (COL3A1)     Deletions/duplications, MLPA, whole blood    Method: Multiplex Ligation-dependent Probe     Amplification-MLPA                  Delivery term: 22 days                Version of Test: 3	EHLERS-DANLOS TYPE IV SYNDROME · COL3A1 · NGS    Method: Next Generation Sequencing (NGS)                 Delivery term: 32 days                Version of Test: 4

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Paramyxovirus (Mumps) (PMV) RNA, biological sample

Method and Delivery Time Modification

Test code: 5134

Effective update from 29/08/2019

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Method: Nested PCR                   Delivery term: 20 days                   Version of Test: 16	Method: Real-Time PCR                          Delivery term: 5 days                   Version of Test: 17

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ISOMERS PORPHYRINS, WHOLE BLOOD

Reference values Modification

Test code: 3831

Effective update from 26/08/2019

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Protoporphyrin whole blood: Less than 150 µg/dL  Plasma fluorescence: Negative  Total porphyrin: Less than 50 nmol/L          We suggest to send EDTA whole blood and plasma EDTA refrigerated. Sample protected from light. When there is a risk of possible hemolysis of the EDTA blood sample during transport or if the refrigerated blood is exceeded within 48 hours, it is recommended to separate the plasma from the cellular elements (erythrocytes, etc.): it must be sent an aliquot with the plasma and another with the cellular elements. The separation must be carried out with care to avoid hemolysis or the mixing of cellular elements with the plasma. The laboratory should receive two aliquots one with the plasma and another with the sediment (cellular elements: erythrocytes, etc.), both should be sent frozen (stability 14 days).                   Version of Test: 10

Protoporphyrin whole blood: Less than 2.5 µmol/LH*  Plasma fluorescence: Negative  Total porphyrin: Less than 50 nmol/L           *Protoporphyrin units in blood at micromol/liter red blood cells (μmol/LH, less than 2.5), according to the recommendations of the EPNET European Porphyria Network.   Recommended sample for national shipments less than 48 hours from collection: · 1 Whole blood EDTA tube (5 mL) Refrigerated Stability: 48 hours (send sample protected from light). Recommended sample for trasnoceanic and national shipments greater than 48 hours from collection: Extraction 1 tube of Whole Blood EDTA 5 mL. Centrifuge and send plasma and the cellular fraction in different aliquots (perform the separation carefully to avoid hemolysis and to mix cellular elements into the plasma) · 1 Frozen plasma EDTA aliquot · 1 Frozen cell fraction aliquot Stability: 14 days (send samples protected from light).                                                   Version of Test: 11

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Smith-Magenis syndrome (region 17p11.2) MLPA, whole blood

Description and Delivery Time Modification

Test code: 5226

Effective update from 26/08/2019

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Smith-Magenis syndrome (region 17p11.2) MLPA, whole blood                Delivery term: 25 days                   Version of Test: 1	SMITH-MAGENIS SYNDROME · 17p11.2 · MLPA             Delivery term: 22 days                   Version of Test: 2

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Paramixovirus (PMV) RNA, LCR

Delivery Time Modification

Test code: 3005

Effective update from 27/08/2019

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Delivery term: 15                   Version of Test: 4	Delivery term: 5 days                   Version of Test: 5

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Erased tests

Test Codes: 1605; 2880; 3466; 3844; 4230; 4466; 4469; 4810; 5092; 5115; 5162; 5185; 5206; 5215; 5297; 5381; 5455; 7882

Effective update from 26/08/2019

Discontinued tests, for shortages and suspension of supply of the reagent by the manufacturer.

1605 - BERRY'S TEST (IBC)
2880 - Hepatitis B virus (HBV) DNA, sperm
3466 - Proteus mirabilis, DNA, faeces
3844 - Hepatitis D virus (HDV) RNA viral load, total blood (Paper Filter)
4230 - Influenza A Virus (IFAV) RNA antigen (H7N), biological sample
4466 - Solid phase anti HLA alloantibodies cribage (Liminex), serum
4469 - Anti HLA alloantibodies isolated antigen (specificity), serum
4810 - Neopterin, urine
5092 - Generalized lipodystrophy type 4 (PTRF) sequencing, total blood
5115 - cKIT (ex. 17) screening, tissue
5162 - BAALC, quantitative, total blood/bone marrow
5185 - Methylmalonic acidemia with homocystinuria, type cb1C (MMACHC) sequencing, whole blood
5206 - Extra-ocular muscle fibrosis (PHOX2A) sequencing, whole blood
5215 - Baraitser-Winter syndrome (ACTB) sequencing, whole blood
5297 - Plasmodium DNA, LCR
5381 - Glycogenosis type 5, panel (intronic variants) (PYGM) screening, whole blood
5455 - Bartonella quintana (DNA), tissue
7882 - Norovirus RNA, vomitus

Selenium, whole blood

ERROR: Reference values, Units and Delivery Time Modification

Test code: 5116

Effective update from 22/08/2019

Correct reference values and units for this test are the indicated below:

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100 - 340 µg/mL             Units: µg/mL	100 - 340 µg/L             Units: µg/L

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FACTOR VIII INHIBITOR, PLASMA

Reference values Modification

Test code: 1625

Effective update from 24/08/2019

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Negative: Less than 0.5 BU (Bethesda Units)       Low titer inhibitor: Less than 5 BU       High titer inhibitor: Greater than 5 BU                         Version of Test: 10	Not detected: Less than 0.5 BU (Bethesda Units)       Low titer inhibitor: Less than 5 BU       High titer inhibitor: Greater than 5 BU             Version of Test: XX

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BETA-HCG (GONADOTROPIC CORIONIC HORMONE) , URINE

Erased Test

Test code: 136

Effective update from 20/08/2019

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ASCORBIC ACID, URINE

Samples Modification

Test code: 260

Effective update from 20/08/2019

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Frozen 24 hours urine.	Frozen 24 hours urine.    It is required 5 mL urine 24 h with 0.2 mL concentrated hydrochloric acid:  · Add 2 mL 0.15 mg/mL homocysteine solution in 10% trichloroacetic acid.  FREEZE AND SEND IT FROZEN.

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LAMOTRIGIN , SERUM

Method Modification

Test code: 2416

Effective update from 21/08/2019

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Method: Manual Electrophoresis + Fluorimetry	Method: Liquid Chromatography/Tandem Mass Spectrometry

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MYD88 (L265P) screening, whole blood/bone marrow

Delivery Time Modification

Test code: 5165

Effective update from 21/08/2019

PREVIOUS	NEW
Delivery term: 10 days                   Version of Test: 2	Delivery term: 12 days                   Version of Test: 3

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Alzheimer's Disease panel 2 (MAPT, CLU, PICALM, CR1) screening, whole blood

Erased test

Test code: 1413

Effective update from 20/08/2019

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DENGUE VIRUS (NS1 ANTIGEN), SERUM

Reference values Modification

Test code: 4198

Effective update from 19/08/2019

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Negative: Less than 0.5                   NS1 antigen screening is recommended for the early diagnosis of Dengue fever. The sample must be taken during       days 1 to 7 after the onset of symptoms. A negative result does not exclude infection if the sample is taken       after this date. In this case, screening for IgM and IgG antibodies are recommended for diagnosis.       * Fuente: PNT, Insert             Version of Test: 11

Negative  : Less than   0.8  Borderline: 0.8 - Less than 1.1  Positive  : Equal or Greater than 1.1             NS1 antigen screening is recommended for the early diagnosis of Dengue fever. The sample must be taken during days 1 to 7 after the onset of symptoms. A negative result does not exclude infection if the sample is taken after this date. In this case, screening for IgM and IgG antibodies are recommended for diagnosis.       * Fuente: PNT, Insert             Version of Test: 12

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