HBV DNA HEPATITIS B/HIV 1 RNA AIDS/HCV RNA HEPATITIS C QUALITATIVE, SERUM

New Test in CIC Catalog

Test Code: 3979

Sample:	Serum (1 ml)
Conservation:	Frozen
Method:	TMA (Transcription Mediated Amplification)
Set Up Days:	Daily
TAT (Days):	7 days

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PREGNENOLONE, SERUM

Modification Methodology and Descriptive of test

Test code: 2093

PREVIOUS Methodology  and Descriptive of test	CURRENT Methodology  and Descriptive of test
Radioimmunoassay 17 HIDROXI PREGNENOLONE, SERUM	Enzyme Immunoasssay PREGNENOLONE, SERUM

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DIURETICS, URINE

Related information

Test: 1992

ADDITIONAL INFORMATION

DIURETICS: Acetazolamide , Ethacrynic acid, Amiloride , Bumetamide, Chlortalidone, Clopamide, Hydroflumethiazide, Altizide, Bendroflumethiazide, Canrenone, Furosemide, Hydrochlorothiazide, Indapamide, Spironolactone, Xipamide  It is necessary to screen for diuretics in urine in patients displaying kidney disorders (urinary leakage of various elements) in the event of concealed use of these substances for weight loss purposes. It may be useful in the follow-up of patients treated with diuretics (compliance monitoring).

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ACETAZOLAMIDE, SERUM

Erased test in CIC Catalog

Test Code: 3530

Discontinued for technical reasons due to low clinical significance of test results and the consequent decrease in demand.

MOLECULAR STUDY FAMILIAL HYPERCHOLESTEROLEMIA (LDLR) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3972

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	60 days
Information:
Familial hypercholesterolaemia (FH) is a hereditary dyslipidaemia characterised by a permanent and isolated elevation in circulating low-density lipoprotein (LDL) levels. FH is often transmitted as a codominant trait and two clinical forms have been described. The heterozygous form is often clinically silent and may be diagnosed at any age following a complete lipid analysis (carried out after a period of fasting of over 12 hours) and diagnostic scores based on familial history (over three or more generations) or a personal history of coronary artery disease, extravascular deposits and isolated hypercholesterolaemia that does not respond to a lipid-controlled diet. The severe homozygous form is very rare with onset in the first two years of life and is characterised by extravascular cholesterol deposits (cutaneous or tendon xanthomas), LDL levels and an arteriopathy (aortic stenosis, coronary artery disease) manifesting before 10 years of age. Recessively inherited hypercholesterolaemia (less than 20 cases reported so far) is characterised by xanthomas and/or atherosclerosis in children with severe hypercholesterolaemia born to parents with normal lipid levels. For the dominant forms, mutations have been identified in the following genes: LDLR (responsible for between 2/3 and 3/4 of dominantly inherited cases), APOB and PCSK9. For the recessive forms, causative mutations have been identified in the LDLRAP1 and ABCG5/ABCG8 genes. Due to the high risk of cardiovascular disease, the diagnosis of HF in an individual should lead to investigation and management of the whole family.
Links:
OMIM Entry - #143890 - HYPERCHOLESTEROLEMIA, FAMILIAL
Orphanet- Familial hypercholesterolemia
OMIM Entry - -606945 - LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

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GAMMA AMINOBUTYRIC ACID (GABA), ORINA

Modification Reference Values

Test code: 3584

PREVIOUS Reference Values	CURRENT Reference Values
Less than 12 mg/g creatinine	Not detected. (Less than 5 µmol/mmol creatinine)

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HANTAVIRUS IgG ANTIBODIES, SERUM

New Test in CIC Catalog

Test Code: 3967

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	Daily
TAT (Days):	15 days

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HANTAVIRUS IgM ANTIBODIES, SERUM

New Test in CIC Catalog

Test Code: 3966

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	Daily
TAT (Days):	15 days

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FATTY ACIDS ERYTHROCYTES ( ZONA DIET) INCLUDES LIPID AND CARBOHYDRATE PROFILE, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3965

Sample:	Whole blood - EDTA (2 ml) & Serum (1 ml)
Conservation:	Refrigerated
Method:	Gas Chromatography (LOINC®: GS)
Set Up Days:	Daily
TAT (Days):	17 days

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FATTY ACIDS SERUM ( ZONA DIET) INCLUDES LIPID AND CARBOHYDRATE PROFILE, SERUM

New Test in CIC Catalog

Test Code: 3964

Sample:	Whole blood - EDTA (2 ml) & Serum (1 ml)
Conservation:	Refrigerated
Method:	Gas Chromatography (LOINC®: GS)
Set Up Days:	Daily
TAT (Days):	17 days

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MOLECULAR STUDY FRAGILE X SYNDROME (SOUTHERN BLOT), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 2492

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Tri-Primer Polymerase Chain Reaction (TP-PCR) / Southern blot
Set Up Days:
TAT (Days):	50 days

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MOLECULAR STUDY FRAGILE X SYNDROME URGENT (SOUTHERN BLOT), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3958

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Tri-Primer Polymerase Chain Reaction (TP-PCR) / Southern blot
Set Up Days:
TAT (Days):	25 days

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IgE SPECIFIC ANTIBODIES - RECOMBINANT GLYCINE MAX (rGly m4) (f353), SERUM

New Test in CIC Catalog

Test Code: 3957

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	Daily
TAT (Days):	5 days

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FIBROBLAST GROWTH FACTOR 23, SERUM

Modification Delivery Time

Test code: 1321

PREVIOUS Delivery Time	CURRENT Delivery Time
Delivery time: 21 days	Delivary time: 45 days

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CANDIDA ALBICANS IgM ANTIBODIES, SERUM

Modification Reference Values

Test code: 3536

PREVIOUS Reference Values	CURRENT Reference Values
NEGATIVE  :  Title 1/160	NEGATIVE  :  Title 1/20

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ANTI - ENA 1 (RNP/Sm) ANTIBODIES , SERUM

Modification Reference Values

Test code: 114

PREVIOUS Reference Values	CURRENT Reference Values
ANTI- RNP (ENA1) ANTIBODIES, SERUM NEGATIVE : Less than     5 U/mL GREY-ZONE: Between  5 - 10 U/mL POSITIVE : Greater than 10 U/mL   ANTI - Sm (ENA 1) ANTIBODIES, SERUM NEGATIVE : Less than     5 U/mL GREY-ZONE: Between  5 - 10 U/mL POSITIVE : Greater than 10 U/mL	ANTI- RNP (ENA1) ANTIBODIES, SERUM NEGATIVE : Less than     7 U/mL GREY-ZONE: Between  7 - 10 U/mL POSITIVE : Greater than 10 U/mL   ANTI - Sm (ENA 1) ANTIBODIES, SERUM NEGATIVE : Less than     5 U/mL GREY-ZONE: Between  5 - 10 U/mL POSITIVE : Greater than 10 U/mL

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ANTIC ANTI ANTIG NUCLEAR EXTRAIVEL [ENA I] RNP, SORO

Modification Reference Values

Test code: 2678

PREVIOUS Reference Values	CURRENT Reference Values
NEGATIVE : Less than     5 U/mL GREY-ZONE: Between  5 - 10 U/mL POSITIVE : Greater than 10 U/Ml	NEGATIVE : Less than     7 U/mL GREY-ZONE: Between  7 - 10 U/mL POSITIVE : Greater than 10 U/

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IgG4 SPECIFIC ANTIBODIES FOR Staphylococcal entero TSST (M226), SERUM

New Test in CIC Catalog

Test Code: 3955

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	T,Th,
TAT (Days):	3 days

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IgG4 SPECIFIC ANTIBODIES FOR Staphylococcal enterotoxin C (M223), SERUM

New Test in CIC Catalog

Test Code: 3954

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	T,Th,
TAT (Days):	3 days

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IgG4 SPECIFIC ANTIBODIES FOR Staphylococcal enterotoxin B (M81), SERUM

New Test in CIC Catalog

Test Code: 3953

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	T,Th,
TAT (Days):	3 days

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IgG4 SPECIFIC ANTIBODIES FOR Staphylococcal enterotoxin A (M80), SERUM

New Test in CIC Catalog

Test Code: 3952

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	T,Th,
TAT (Days):	3 days

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IgG SPECIFIC ANTIBODIES FOR Staphylococcal entero TSST (M226), SERUM

New Test in CIC Catalog

Test Code: 3951

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	T,Th,
TAT (Days):	3 days

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IgG SPECIFIC ANTIBODIES FOR Staphylococcal enterotoxin C (M223), SERUM

New Test in CIC Catalog

Test Code: 3950

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	T,Th,
TAT (Days):	3 days

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IgG SPECIFIC ANTIBODIES FOR Staphylococcal enterotoxin B (M81), SERUM

New Test in CIC Catalog

Test Code: 3949

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	T,Th,
TAT (Days):	3 days

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IgG SPECIFIC ANTIBODIES FOR Staphylococcal enterotoxin A (M80), SERUM

New Test in CIC Catalog

Test Code: 3948

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	T,Th,
TAT (Days):	3 days

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IgE SPECIFIC ANTIBODIES FOR BIRCH POLEN ( rBet v2, rBet v4 (T221)) POLENS -

New Test in CIC Catalog

Test Code: 3944

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	Daily
TAT (Days):	7 days

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MOLECULAR STUDY BRANCHIOOTIRENAL SYNDROME - BOR (EYA1) MLPA, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3943

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
TAT (Days):	20 days
Information:
Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required.
Links:
Orphanet- BOR syndrome
OMIM Entry - #113650 - BRANCHIOOTORENAL SYNDROME 1; BOR1

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MOLECULAR STUDY GENOTYPE HLA-DP CLASS II (HIGH RESOLUTION), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3937

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Polymerase chain reaction (LOINC®: PCR)
Set Up Days:	Daily
TAT (Days):	15 days

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MOLECULAR STUDY GENOTYPE HLA-DR CLASS II (HIGH RESOLUTION), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3936

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Polymerase chain reaction (LOINC®: PCR)
Set Up Days:	Daily
TAT (Days):	15 days

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MOLECULAR STUDY GENOTYPE MHC-DR CLASS II (LOW RESOLUTION), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3935

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Polymerase chain reaction (LOINC®: PCR)
Set Up Days:	Daily
TAT (Days):	15 days

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MOLECULAR STUDY GENOTYPE MHC-C CLASSE I (HIGH RESOLUTION), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3934

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Polymerase Chain Reaction (PCR)
Set Up Days:	Daily
TAT (Days):	15 days

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MOLECULAR STUDY GENOTYPE MHC-B CLASSE I (HIGH RESOLUTION), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3933

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Polymerase Chain Reaction (PCR)
Set Up Days:	Daily
TAT (Days):	15 days

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MOLECULAR STUDY GENOTYPE MHC-A CLASSE I (HIGH RESOLUTION), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3932

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Polymerase Chain Reaction (PCR)
Set Up Days:	Daily
TAT (Days):	15 days

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MOLECULAR STUDY GENOTYPE MHC-C CLASSE I (LOW RESOLUTION), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3931

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Polymerase Chain Reaction (PCR)
Set Up Days:	Daily
TAT (Days):	15 days

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