Phenylketonuria (exons 7, 8, 11, 12-PAH) screening, whole blood

Erased test

Test code: 1696

Effective update from 04/03/2020

Alternative test:
5494- Phenylketonuria (PAH) sequencing, whole blood

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Risk index - first trimester screenning (PAPP-A, Free Beta-HCG) , serum

Reference values Modification

Test code: 5181

Effective update from 26/02/2020

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We recommend further study, if the patient's Down syndrome risk is equal to or greater than 1 in 250.             We recommend further study, if the patient's Edwards' syndrome risk is equal to or greater than 1 in 250	We recommend further study, if the patient's Down syndrome risk is equal to or greater than 1 in 250.             We recommend further study, if the patient's Edwards' syndrome risk is equal to or greater than 1 in 250             We recommend further study, if the patient's Patau's syndrome risk is equal to or greater than 1 in 250

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Factor V, variant HR2 (H1299R - F5) screening, whole blood

Description and Delivery Time Modification

Test code: 4909

Effective update from 28/02/2020

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Factor V, variant HR2 (H1299R - F5) screening, whole blood                  Delivery term: 10 days                   Version of Test: 4	FACTOR V THROMBOPHILIA SUSCEPTIBILITY · F5 (His1299Arg (HR2)) · HOT SPOT                      Delivery term: 22 days                   Version of Test: 5

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Risk index - first trimester screenning (PAPP-A, Free Beta-HCG) , serum

Report, Units and Method Modification

Test code: 5181

Effective update from 26/02/2020

PREVIOUS	NEW
R6 (PAPP-A) Units: mU/L      R1: Age  R2: Gestational age (day extraction) R3: Gestational age (day echography) R4: Nuchal Translucency R5: MoM NT R6: PAPP-A R7: (MoM) PPAP-A R8: Free Beta HCG R9: (MoM) Free Beta HCG R10: Calculated Down Syndrome Risk R11: Trysomia 18 risk        Method: Fluoroenzyme Immunoassay             Version of Test: 19	R6 (PAPP-A) Units: mUI/mL           R1: Age  R2: Gestational age (day extraction) R3: Gestational age (day echography) R4: Nuchal Translucency R5: MoM NT R6: PAPP-A R7: (MoM) PPAP-A R8: Free Beta HCG R9: (MoM) Free Beta HCG R10: Calculated Down Syndrome Risk R11: Trysomia 18 risk R12: Trysomia 13 risk        Method: Immunofluorescence Assay (TRACE)       Version of Test: 20

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Usher Syndrome panel (MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31 (WHRN), CLRN1, CIB2, PDZD7) NGS, total blood

Description, Studied Genes and Delivery Time Modification

Test code: 7349

Effective update from 24/02/2020

PREVIOUS	NEW
Usher Syndrome panel (MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31 (WHRN), CLRN1, CIB2, PDZD7)  NGS, total blood Studied Genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31 (WHRN), CLRN1, CIB2, PDZD7                   Delivery term: 60 days                   Version of Test: 3	USHER SYNDROME · PANEL · NGS            Studied Genes            CDH23, CIB2, CLRN1, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A               Delivery term: 42 days                   Version of Test: 4

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DAO PLUS, PLASMA

Description, Report Modification

Test code: 1571

Effective update from 26/02/2020

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DAO PLUS, PLASMA Interpretation of results: High incidence of histamine intolerance: < 3.74 U / mL (<40 HDU) Possible incidence of histamine intolerance:  3.74 - 12.54 U / mL (40-80 HDU) Low incidence of histamine intolerance: > 12.54 U / mL (> 80 HDU)                   HDU: histamine degradation unit       Comments:       Histamine is a molecule present in almost all foods, and each individual's capacity to metabolise and eliminate it is different. This capacity is essentially determined by the activity of the diamine oxidase (DAO) digestive enzyme. In people with normal DAO activity, the histamine in their diet is rapidly broken down. However, in people with low activity, a histamine excess is produced in the blood, which increases the likelihood of different symptoms appearing. Symptoms which are derived from what is known as DAO Deficit, food-induced histaminosis or histamine intolerance.             The symptoms associated with DAO deficit vary greatly and represent highly prevalent chronic pathologies in the population (see table 1). Those affected by this deficit do not necessarily present with all of the described symptoms, although most generally present with 3 and migraine is especially prevalent among them. The appearance of symptoms is not related to the consumption of any food in particular but may rather be associated with a wide range of foods with variable histamine content. The appearance of symptoms is not immediate either as there is no direct time relationship between eating food with a high histamine or histamine releaser content and clinical diagnosis of DAO deficit.            Both circumstances therefore make it difficult to establish a direct relationship between the food and the symptoms, and therefore a clinical diagnosis of DAO deficit. Identifying low DAO enzyme activity as an intrinsic factor in triggering clinical symptoms of DAO deficit allows effective preventive treatment of the illness and the improvement of the patient's quality of life.             DAO enzyme activity does not always correlate with the concentration of the enzyme, so the analysis of its concentration is not useful in assessing the cause of the symptoms. Considerable placental synthesis of the DAO enzyme occurs during pregnancy, therefore the analysis is not recommended for pregnant women.       DAO enzyme activity may be permanently low due to genetic factors, which is what happens to patients with DAO deficit. However, it may also be temporarily low due to the use of inhibitors (such as alcohol and many drugs) or pathological situations (for instance after intestinal surgery., etc.). Drug-induced inhibition is a relatively important possible cause as it has been indicated that more than 90 medicines are capable of inhibiting DAO activity (see table 2).                                 Table 1       The clinical states currently associated with DAO deficit are:       - Migraine and other vascular headaches       - Gastrointestinal disorders: especially those associated with Irritable Bowel Syndrome, such as constipation, diarrhoea, satiety, flatulence or a bloated sensation       - Dermatological disorders: such as dry skin, atopy and psoriasis       - Bone disorders: such as osteopathic pain       - Muscular problems: such as muscular pain, frequently diagnosed as fibromyalgia       - Chronic Fatigue       - In infancy and adolescence this has been related to attention disorder hyperactivity and with Cyclic Vomiting Syndrome.             Table 2. Drugs capable of inhibiting the DAO       (Veciana-Nogués y Vidal-Carou, 2008)       Group             Active ingredient       Analgesics        Metamizole 1,2       Antihistamines    Diphenhydramine 4                          Cimetidine 1,3       Antiarrhythmics   Quinidine 4                          Propafenone       Antiasthmatics    Theophylline 4       Antibiotics       Clavulanate 1,3                          Cefotiam 1,2                          Cefiroxina 1,2                          Cycloserina 4                         Chloroquine 1,3                          Framycetin 4                          Pentamycin 1,4       Antidepressants   Amitriptyline 1,4       Antihypertensives Dihydralazine 1,3                          Verapamil 1,3       Cardiotonics      Dobutamine 1,3       Anti-rheumatic    Acemetacin 1,4       Antiseptics       Acriflavine 4       Antituberculars   Isoniazide 1,3       Bronchitics       Aminophylline 1,3       Diuretics         Amiloride 1,5                          Furosemide 4       Mucolytics        Acetilcisteine 1,4                          Ambroxol 1,4       Neurolépticos     Haloperidol 4       Prokinetics       Metoclopramide 1,3       Tranquilizers     Diazepam 4       Muscle Relaxant   Pancuroni 1,4             (1) Mainz i Novack (2007); (2) Sattler y col, (1985); (3) Sattler i Lorenz (1990); (4) Steneberg, A (2007), (5) Novotny y col, (1994); (6) Wantke (1998).             Bibliography       Maintz L, Novak N. Histamine and histamine intolerance. American Journal of Clinical Nutrition 2007, Vol.85, No. 5, 1185-1196.             LABCO is a member of the Spanish DAO Deficit Society.       Read more at: www.deficitdao.org, http://migratest.net/ http://lacosalud.com/migratest.

DAO PLUS               See attached report

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AMINO ACIDS

Method Modification

Test code: 1432; 1505; 5039

Effective update from 24/02/2020

1432 - AMINO ACIDS, CSF
1505 - AMINOACIDS (COMPLETE STUDY), URINE
5039 - Aminoacids (complete study), plasma
 

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Method: Liquid Chromatography/Tandem Mass Spectrometry	Method: Ultra High Performance Liquid Chromatography (UHPLC)

MIRTAZAPINE, SERUM

Reference values and Method Modification

Test code: 1186

Effective update from 24/02/2020

PREVIOUS	NEW
20 - 200 µg/L        Method: Gas Chromatography/Mass Spectrometry	30 - 80 µg/L            Method: Liquid Chromatography/Tandem Mass Spectrometry (LC-MS/MS)

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Hepatitis C virus (HCV) RNA viral load, plasma

UPDATE: Report, Results format and Delivery Time Modification

Test code: 2700

Effective update from 24/02/2020

The order of the results and the delivery time will not be altered for the new version of the test:

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R1: Result (copies/mL) R2: Result (IU/mL) R3: Result (log) Results format: No copies are detected    Quantification (IU/mL): <15 IU/mL Quantification (copies/mL): <41 copies Logarithm: <1.17 Viral load below 15 IU/mL    Quantification (IU/mL): <15 IU/mL Quantification (copies/mL): <41 copies Logarithm: <1.17    Quantified result    Quantification (IU/mL): 15 IU/mL Quantification (copies/mL): 41 copies Logarithm: 1.17             Delivery term: 6 days                   Version of Test: 21

R1: Quantification (copies/mL) R2: Quantification (IU/mL) R3: Logarithm Results format: No copies are detected Quantification (IU/mL): Not detected Quantification (copies/mL): Not detected Logarithm: Not Valuable Viral load below 15 IU/mL Quantification (IU/mL): <15 IU/mL Quantification (copies/mL): <41 copies Logarithm: Not Valuable Quantified result In case of quantification greater than or equal to 15 IU/mL, the results format is not modified Quantification (IU/mL): 15 IU/mL Quantification (copies/mL): 41 copies Logarithm: 1.17                       Delivery term: 6 days                   Version of Test: 22

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COMPLEMENT C3 PROACTIVATOR, SERUM

Reference values and Delivery Time Modification

Test code: 351

Effective update from 21/02/2020

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10 - 40 mg/dL       * Fuente: PNT, Insert             Delivery term: 1 days                   Version of Test: 9	24.3 - 53.3 mg/dL                Delivery term: 2 days                   Version of Test: 10

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BRAF (V600E) screening, tissue

Description and Delivery Time Modification

Test code: 3788

Effective update from 21/02/2020

PREVIOUS	NEW
BRAF (V600E) screening, tissue               Delivery term: 15 days                   Version of Test: 5	BIOMARKERS IN SOLID TUMORS  · BRAF(V600X) ·     HOT SPOT             Delivery term: 9 days                   Version of Test: 6

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Polycystic Kidney Disease, panel (6 genes) NGS, biological sample

Description, Studied Genes and Delivery Time Modification

Test code: 7413

Effective update from 21/02/2020

PREVIOUS	NEW
Polycystic Kidney Disease, panel (6 genes) NGS, biological sample      Studied Genes       PKD1, PKD2, PKHD1, BICC1, HNF1B, NOTHC2 Delivery Term: 57 days       Version of Test: 14	POLYCYSTIC KIDNEY DISEASE · PANEL B · NGS   Studied Genes BICC1 , GANAB, HNF1B, NOTCH2, PKD1, PKHD1, PKD2        Delivery Term: 42 days             Version of Test: 15

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