Muckle-Wells Syndrome (NLRP3) sequencing, total blood

Description, Method, Delivery time and Mnemonic Modification

Test code: 4114

Previous Mnemonic code: G1124

New Mnemonic code: G17019

Effective update from 12/02/2024

PREVIOUS	NEW
Muckle-Wells Syndrome (NLRP3) sequencing, total blood  Method: Sequencing Delivery time: 30 days              Version of Test: 7	MUCKLE-WELLS SYNDROME · NLRP3 · SANGER         Method: Sanger Sequencing  Delivery time: 32 days                  Version of Test: 8

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TRIO WHOLE EXOME + MITOCHONDRIAL GENOME

New Test in NOÛS Catalog

Test Code: 9974

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	42 days

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PENTACHLORPHENOL, URINE

Reference values Modification

Test code: 6048

Mnemonic code: CFOR

Effective update from 05/02/2024

PREVIOUS	NEW
B.E.I.: 25 mg/g creatinine                               Version of Test: 9	Exposure to Chlorobenzene   BEI (ACGIH) in end-of-workday urine: Less than 20 mg/g creatinine   LoQ: 1 mg/L   *Source: ACGIH - American Conference of Governmental Industrial Hygienists"   Version of Test: 10

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FACTOR Xa (ANTI ACTIVATED), PLASMA

Description and Reference values Modification

Test code: 4343

Mnemonic code: FACX

Effective update from 05/02/2024

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Description: FACTOR Xa (ANTI ACTIVATED), PLASMA             Reference Values:       UFH (unfractionated heparin):             0.3 - 0.7 UI/mL             LMWH (low molecular weight heparin):             Every 12h: 0.6 - 1.0 UI/mL       Every 24h: 1.0 - 2.0 UI/mL             * Rest of anticoagulants: Result interpretation according to the anticoagulant used, dose and time elapsed from last intake until the moment of sample extraction.                        Version of Test: 9

Description: ANTI FACTOR X ACTIVITY, PLASMA                  Reference Values:    UFH (unfractionated heparin): 0.3 - 0.7 UI/mL LMWH (low molecular weight heparin)therapeutic range: 0.6 - 1.0 UI/mL (HBPM every 12 hours)        1.0 - 2.0 UI/mL (HBPM every 24 hours)                                                         Version of Test: 10

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DELTA AMINOLEVULINIC ACID DEHYDRATASE

Discontinued Temporarily

Test code: 9698

Mnemonic code: ALADH

Effective update from 29/01/2024

Test discontinued temporarily due to supply issues from the supplier laboratory.

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COCLEARS P-68 kD (HSP-70) ANTIBODIES, SERUM

Delivery Time Modification

Test code: 7740

Mnemonic code: ACP68

Effective update from 29/01/2024

PREVIOUS	NEW
Delivery term: 12 days	Delivery term: 10 days

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LEPTIN, SERUM

Sample (Only Nationa) and Reference values Modification

Test code: 3120
Mnemonic code: LEP

Effective update from 05/02/2024

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Sample (National): Frozen serum       Reference Values       Woman: 3.63 - 11.10 ng/mL       Man : 2.05 - 5.63 ng/mL       Valid values for CMI (Corporal Mass Index)       between 18-25             *Values are increased in base of corporal mass.       *It is recommended periodical determinations,       one isolated result is not valid.                                     Version of Test: 8

Sample (National): Refrigerated serum   Reference Values:   Adults     BMI                Reference Values     18.5 - 24.9        Less than 8.3 ng/mL     25 - 30            Less than 19.3 ng/mL     Greater than a 30  Less than 32.0 ng/mL   Children (1 - 10 years)     BMI               Reference Values     Not determined    Less than 7.0 ng/mL     *Values ara increased in base of corporal mass.     **It is recommended periodical determinations, one isolated result is not valid.     Source: PNT, Insert     Version of Test: 9

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ORGANIC ACIDS · SCREENING, URINE

Erased Test

Test code: 9861

Mnemonic code: AOOSC

Effective update from 05/02/2024

Alternative: 9949 (AOOEC) -  ORGANIC ACIDS STUDY, URINE

This study includes the qualitative analysis of 79 organic acids. Only the organic acids that show deviations in the initial review are quantified.

The analyzed organic acids are:

Lactic acid, Phenylpyruvic acid, Glyoxylic acid, Vanilinlactic acid, 2-hydroxysebacic acid, Oxalic acid, 2-oxoadipic acid, 3-hydroxyisobutyric acid, 3-hydroxysebacic acid, 2-methyl-3-hydroxybutyric acid, 5-hydroxyindoleacetic acid, Malonic acid, Suberylglycine, Acetoacetic acid, Succinylacetone, 3-hydroxyisovaleric acid, Hexanoylglycine, Methylmalonic acid, 2,3-dihydroxybutyric acid, 4-hydroxybutyric acid, Glycolic acid, Ethylmalonic acid, Thioglycolic acid, Methylsuccinic acid, Octenedioic acid, Glyceric acid, Hippuric acid, Fumaric acid, Decenedioic acid, Isobutyrylglycine, Vanilmandelic acid, 3-methylglutaric acid, Decanedioic acid, A.3-methylglutaconic acid, A.4-hydroxyphenyllactic acid, Isovalerylglycine, A.2-oxoglutaric acid, Malic acid, Phenylpropionylglycine, Adipic acid, N-acetyltyrosine, Mevalonic acid, A.4-hydroxyphenylpyruvic acid, Tiglylglycine, A.2-hydroxybutyric acid, A.2-hydroxyphenylacetic acid, A.3-hydroxypropionic acid, A.2-hydroxyglutaric acid, A.2-hydroxyisovaleric acid, A.3-hydroxyglutaric acid, A.2-ethyl-3-hydroxypropionic acid, A.3-hydroxy-3-methylglutaric acid, A.2-hydroxyisocaproic acid, N-acetylasparagic acid, A.3-hydroxyvaleric acid, A.2-hydroxyadipic acid, A.2-hydroxy-3-methylvaleric acid, Suberic acid, A.4-hydroxyisovaleric acid, Orotic acid, A.5-hydroxyhexanoic acid, Homovanillic acid, Glutaconic acid, A.3-hydroxybutyric acid, Mandelic acid, Glycerol, 5-Oxoproline, Succinic acid, A.3-methylcrotinylglycine, Uracil, A.phenyllactic acid, Glutaric acid, A.4-hydroxyphenylacetic acid, A.3-hydroxyadipic acid, Aconitic acid, Citric acid, Homogentisic acid, Methylcitric acid, Sebacic acid.

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ZONISAMIDE, SERUM

Reference values Modification

Test code: 1553

Mnemonic code: ZONI

Effective update from 05/02/2024

PREVIOUS	NEW
Therapeutic level:       20 - 40 mg/L       LoQ: 0.5 mg/L                            Version of Test: 7	Therapeutic level: 20 - 40  mg/L   Toxicity : Greater than 40 mg/L   LoQ : 4 mg/L         *Source: Hiemke C et al. Consensus Guidelines for Therapeutic Drug Monitoring in Pharmacopsychiatry 2018; 51: 9–62. AGNP 2018.                   Version of Test: 8

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VITELLIFORM MACULAR DYSTROPHY · PANEL · MLPA

New Test in NOÛS Catalog

Test Code: 9972

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	24 days

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ANTI - MICROSOMAL HEPATIC/RENALS (LKM) ANTIBODIES, SERUM

Reference values Modification

Test code: 5203

Mnemonic code: LKM

Effective update from 05/02/2024

PREVIOUS	NEW
Negative: Less than 1/10                               Version of Test: 3	Negative: Less than 1/20          * Source: PNT, Insert                            Version of Test: 4

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LIMG-GIRDLE MUSCULAR DYSTROPHY AD TYPE 1B · LMNA · SANGER

New Test in NOÛS Catalog

Test Code: 9970

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sanger sequencing
Set Up Days:	Daily
Delivery term:	32 days

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ONCO IN BLOOD - DISCONTINUED TEMPORALY

Dicontinued temporaly

Temporary test suspension due to the temporary cessation of service by the supplier

Effective update from 22/01/2024

Código Prueba	Código nemónico	Prueba
5073	G15027	ONCO IN BLOOD · BRAF(V600E, V600K) · RT-PCR+PNA
5074	G15028	ONCO IN BLOOD · EGFR(19, 21, T790M) · RT-PCR+PNA
7354	G15029	ONCO IN BLOOD · EGFR (C797S) · RT-PCR+PNA
7356	G15030	ONCO IN BLOOD · EML4/ALK(var 1, 2, 3) · RT-PCR
5075	G15031	ONCO IN BLOOD · KRAS(2, 3) · RT-PCR+PNA
7365	G15032	ONCO IN BLOOD · MET(var splicing 7/8, var splicing 14) · RT-PCR
7361	G15033	ONCO IN BLOOD · PIK3CA(9,20) · RT-PCR+PNA
8257	G15110	ONCO IN BLOOD · EGFR (18, 19, 20, 21) · NGS
8726	G15137	BIOMARCADORES IN SOLIDS TUMORS · MET (splicing var 7/8; 14) · RT-PCR
9825	G15150	BLADDER  NEOPLASM · FGFR2, FGFR3 · NGS
9542	G15172	ONCO IN BLOOD · BRAF, KRAS, NRAS · NGS

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SIROLIMUS, WHOLE BLOOD

Reference values and Delivery Time Modification

Test code: 2792

Effective update from dd/mm/aa

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Kidney transplant             Combination with steroids and mycophenolic acid:       5 - 10 ng/mL       Combination with steroids without mycophenolic acid:       8 - 12 ng/mL       Triple therapy with cyclosporine A, corticosteroids and sirolimus:       4 - 12 ng/mL       Dual therapy with corticosteroids and sirolimus:       12 - 20 ng/mL             Liver transplant             Therapy with Cyclosporin A or tracolimus, sirolimus and, if necessary, corticosteroids:       3 - 6 ng/mL       Sirolimus therapy and, if necessary, coricosteroids:       5 - 8 ng/mL       *Source: PNT, Insert                                Version of Test: 17

Kidney transplant             Combination with steroids and mycophenolic acid:       5 - 10 ng/mL       Combination with steroids without mycophenolic acid:       8 - 12 ng/mL       Triple therapy with cyclosporine A, corticosteroids and sirolimus:       4 - 12 ng/mL       Dual therapy with corticosteroids and sirolimus:       12 - 20 ng/mL             Liver transplant             Therapy with Cyclosporin A or tracolimus, sirolimus and, if necessary, corticosteroids:       3 - 6 ng/mL       Sirolimus therapy and, if necessary, coricosteroids:       5 - 8 ng/mL       LoQ: 2 ng/mL       *Source: PNT, Insert        Version of Test: 18

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