BASIC INTESTINAL DYSBIOSIS, STOOL

New Test in CIC Catalog

Test Code: 4351

Sample:	Stool
Conservation:	Refrigerated
Method:
Set Up Days:	Daily
Plazo de Entrega:	18 days

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INTESTINAL DYSBIOSIS- PARASITES AND VIRUS, STOOL

New Test in CIC Catalog

Test Code: 4350

Sample:	Stool
Conservation:	Refrigerated
Method:
Set Up Days:	Daily
Plazo de Entrega:	18 days

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ADVANCED INTESTINAL DYSBIOSIS, STOOL

New Test in CIC Catalog

Test Code: 4349

Sample:	Stool
Conservation:	Refrigerated
Method:
Set Up Days:	Daily
Plazo de Entrega:	18 days

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ANTI - BARRIER (CHANNEL VOLTAGE) ANTIBODIES OF POTASSIUM, CSF

New Test in CIC Catalog

Test Code: 4355

Sample:	Cerebrospinal Fluid - CSF(1ml)
Conservation:	Refrigerated
Method:	Immunoradiometric assay (LOINC®: IRMA)
Set Up Days:	Daily
Plazo de Entrega:	15 days

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RESISTIN, SERUM

New Test in CIC Catalog

Test Code: 4356

Sample:	Serum (1 ml)
Conservation:	Frozen
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	Daily
Plazo de Entrega:	25 days

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FERRITIN GLYCOSYLATED, SERUM

New Test in CIC Catalog

Test Code: 4353

Sample:	Serum (2 ml)
Conservation:	Refrigerated
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	Daily
Plazo de Entrega:	15 days

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MOLECULAR STUDY HEREDITARY HYPEREKPLEXIA (GLRA1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4354

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Hereditary hyperekplexia manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high-frequency trembling. Newborns are at risk for sudden infant death due to laryngospasm and cardiorespiratory failure. Stiffness attacks may resemble epileptic seizures, although sleep can reduce or even abolish stiffness and jerking and EEG is normal. In the months after birth, muscle stiffness subsides, but excessive jerking to external stimulation or excitement persists. Motor milestones are often mildly delayed, but intellectual development is usually normal. Affected children walk toddling, and often seek assistance or a hold. Gait disturbance increases when in a hurry, amongst a crowd, or if forced. Stumbling or an unexpected jolt may induce uncontrolled falls (''like a log'') with the risk of serious injuries. Mutations in the GLRA1 gene (5q32) are found in about 30% of patients with hereditary hyperekplexia (and a considerable number of patients without an obviously affected parent). These mutations are transmitted as an autosomal dominant or recessive trait.

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COPPER, SERUM

Modification Reference values

Test code: 315

PREVIOUS Reference values	CURRENT  Reference values
CHILDREN  (Less than 6 months): From 20 to 70  µg/dL                   ADULTS: From 64 to 128 µg/dL	Children: Birth - 6 months:          20 - 70  µg/dL 6 months -  6 years:     90 - 190 µg/dL 6 - 12 years:                80 - 160 µg/dL Adults: Men:                           70 - 140 µg/dL Women:                      80 - 150 µg/dL

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ALPHA SUBUNIT FREE, SERUM

Modification Delivery Time 

Test code: 2477

PREVIOUS Delivery Time	CURRENT  Delivery Time
Delivery time: 25 days	Delivery time: 10 days

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RISPERIDONE/ HYDROXIRISPERIDINE (SERUM)

Modifications  Relative information

Test code: 3417

PREVIOUS	CURRENT   Relative information
Risperidine:           3 -  20 µg/L Hydroxy-9-Risperidone: 5 - 100 µg/L    The half life of risperidone can vary between 3 to 20 h, therefore the stable state is obtained from 1 to 5 days in function of CYP2DG genotype of patient.	Risperidine:           3 -  20 µg/L Hydroxy-9-Risperidone: 5 - 100 µg/L    The half life of risperidone can vary between 3 to 20 h, therefore the stable state is obtained from 1 to 5 days in function of CYP2D6 genotype of patient.

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BACLOFEN, SERUM

New Test in CIC Catalog

Test Code: 4352

Sample:	Serum (3 ml)
Conservation:	Frozen
Method:	High Performance Liquid Chromatography (LOINC®: HPLC)
Set Up Days:	Daily
Plazo de Entrega:	15 days

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CYTOMEGALOVIRUS RESISTENCE, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4345

Sample:	Whole blood - EDTA(2 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	15 days

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INTERFERON GAMMA (QUANTIFERON TB), PLASMA

Modification  Reference Values and  Delivery term 

Test code: 3147

PREVIOUS   Reference Values and  Delivery term

CURRENT  Reference Values and  Delivery term

NEGATIVE CONTROL:         Less than 8 UI/mL Ag TB-NC:              Less than 0.35 UI/mL POSITIVE-NT CONTROL: Greater than 0.5 UI/mL   The Quantiferon TB Gold In-Tube test is an indirectect screening analysis for infection by Mycobacterium tuberculosis with uses specific peptides from the M.tuberculosis complex (Ag TB). The specificity of the test is excellent (99%) and its sensibility is greather than that of TST (84%). (Diel et coll, chest, 2010). However, a positive Quantiferon test result cannot distinguish between a latent or active infection. This test cannot date the infection. Delivery term: 30 days

Less than 0.35 UI/mL    The Quantiferon TB Gold In-Tube test is an indirectect screening analysis for infection by Mycobacterium tuberculosis with uses specific peptides from the M.tuberculosis complex (Ag TB). The specificity of the test is excellent (99%) and its sensibility is greather than that of TST (84%). (Diel et coll, chest, 2010). However, a positive Quantiferon test result cannot distinguish between a latent or active infection. This test cannot date the infection. The extraction must be Monday through Wednesday. Delivery term: 9 days

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MOLECULAR STUDY MYOFIBRILLAR MYOPATHY (MYOT) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4344

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	40 days
Information:
Myofibrillar myopathies (MFM) are a clinically and genetically heterogeneous group of neuromuscular disorders with a common morphological phenotype. MFM are characterized by myofibrillar structural changes comprising abnormal intracellular accumulations of the intermediate filament desmin and other proteins. The clinical manifestations are variable and the dominant clinical feature is usually a slowly progressive muscular weakness. In a subset of patients cardiomyopathy and peripheral neuropathy are also present. Onset occurs in adulthood in the majority of patients and some patients have a rapidly progressive clinical course. Diagnosis is made on the basis of muscle biopsies revealing abnormal intracellular protein inclusions. In most MFM patients, the molecular basis of the disease is unknown. A small proportion of MFM patients carry disease-associated mutations. At least six genes have been associated with myofibrillar myopathy. Mutations in these six genes account for approximately half of all cases of this condition. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy when the genetic cause is known. At present, there is no disease-specific therapy available.
Links:
Myofibrillar myopathy - Genetics Home Reference
OMIM Entry - # 609200 - MYOPATHY, MYOFIBRILLAR, 3; MFM3
Orphanet- Myofibrillar myopathy
OMIM Entry - - 604103 - MYOTILIN; MYOT

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FACTOR Xa (ANTIACTIVADO), PLASMA

New Test in CIC Catalog

Test Code: 4343

Sample:	Citrate plasma (3.8% Dil. 1/9) - frozen (1 ml)
Conservation:	Frozen
Method:	Chromogenic substrate
Set Up Days:	Daily
Plazo de Entrega:	7 days

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Pro-GRP - GASTRIN RELEASING PEPTIDE (LUNG TUMOR MARKER), SERUM

Modification Method and  Reference Values 

Test code: 1367

PREVIOUS   Method and Reference Values	CURRENT  Method  and Reference Values
CHEMILUMINESCENCE Normal                  Less than 100 pg / mL Indetermined             100 to 150 pg / mL Pulmonary Carcinoma   Over 100 pg / mL	INMUNOASSAY Less than 50 pg/mL

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CLOSTRIDIUM BOTULINUM TOXIN DETECTION, STOOL

New Test in CIC Catalog

Test Code: 4341

Sample:	Stool
Conservation:	Refrigerated
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	Daily
Plazo de Entrega:	7 days

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RISPERIDONE/ HYDROXIRISPERIDINE (SERUM)

Modification Reference values

Test code: 3417

PREVIOUS Reference values

CURRENT  Reference values

Therapeutic zone: The total concentration of Risperidone and hydroxy-9 risperidone is usually between 10 to 70 ug/L for a sample taken at a residual level and within and equilibrium state: i. e. 5 days after starting or modifying treatment. N.B. The half life of risperidone ca vary between 3 to 20 H, therefore the stable state is obtained from 1 to 5 days in function of CYP2DG genotype of patient.

Risperidine:           3 -  20 µg/L Hydroxy-9-Risperidone: 5 - 100 µg/L The half life of risperidone can vary between 3 to 20 h, therefore the stable state is obtained from 1 to 5 days in function of CYP2DG genotype of patient.

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MOLECULAR STUDY HIPER IGE SYNDROME (DOCK8) MLPA, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4339

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES), but other features such as persistent cutaneous viral infections are unique to AR-HIES. In addition to the clinical triad, AR-HIES includes extreme hypereosinophilia, susceptibility to viral infections such as herpes simplex and herpes zoster, molluscum contagiosum and human papillomavirus, which are extensive, difficult to control and mutilating, and a severe dermatitis that may often be superinfected with S. aureus or, in less frequent cases, with herpes simplex (eczema herpeticum). Other clinical features such as involvement of the central nervous system (facial paralysis, hemiplegia, ischemic infarction, and subarachnoid hemorrhage), autoimmune effects, and vascular disorders are variably associated. Poor growth and failure to thrive appears to be common. Unlike AD-HIES, 50-70% of patients develop severe allergies, including anaphylaxis to food and environmental antigens, and about 30% have asthma. Although eosinophilia is a common finding in both AD- and AR-HIES, it tends to be more severe in the AR variant. The dental, skeletal and connective tissue anomalies, as well as the characteristic facies and pneumatoceles which are present in AD-HIES are rarely seen in AR-HIES. There is an increase risk of malignancies. Homozygous mutations of the dedicator of the cytokinesis 8 DOCK8 (9p24.3) gene are responsible for many, although not all, cases. DOCK8 deficiency appears to impair CD4+and CD8+T-cell proliferative responses, as well as B- and T-cell memory. Due to the great variety of clinical features of DOCK8 deficiency, early diagnosis can be challenging and genetic testing may be essential. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in the family is known. AR-HIES follows autosomal recessive transmission and is more common in consanguineous families.

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