TRANSFERRIN (SOLUBLE RECEPTOR), SERUM

Modification Reference values

Test code: 2956

PREVIOUS Reference values	CURRENT  Reference values
Men    2.10 - 4.50 mg/L women  1.80 - 4.60 mg/L	0.76 - 1.76 mg/L

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PM/Scl ABS (PM-1) ANTIBODIES, SERUM

Modification Methodology and Reference Values

Test code: 2692

PREVIOUS Methodology  and Reference Values	CURRENT Methodology  and Reference Values
Immunoblot Not detected	Fluoroenzymeimmunoassay NEGATIVE : Less than     7 U/mL GREY-ZONE: Between  7 - 10 U/mL POSITIVE : Greater than 10 U/mL

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CARDIOLIPIN IgA ANTIBODIES, SERUM

Modification Reference values

Test code: 3346

PREVIOUS Reference values	CURRENT  Reference values
NEGATIVE: Inferior a 13 APL/mL	NEGATIVE:        Less than 14 APL-U/mL INDETERMINATE:        14 - 20 APL-U/mL POSITIVE:     Greater than 20 APL-U/mL

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VITAMIN B12 (CYANOCOBALAMINE), SERUM

Modification Reference values

Test code: 254

PREVIOUS Reference values	CURRENT  Reference values
200 - 950 pg/mL	Low:          Less than 120 pg/mL Undetermined:     120 - 160 pg/mL Normal:             160-970 pg/mL High:      Greater than 970 pg/mL

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FOLIC ACID , SERUM

Modification Reference values

Test code: 101

PREVIOUS Reference values	CURRENT  Reference values
Normal    : 3   - 17      ng/mL Grey zone : 1.5 -  3      ng/mL Low levels: Less than 1.5 ng/mL	Normal    : 1.5   - 16.9  ng/mL Low levels: Less than 1.5 ng/mL

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RENIN (ACTIVITY), PLASMA

Modification Reference values

Test code: 228

PREVIOUS Reference values	CURRENT  Reference values
Upright: 1.5 - 5.7 ng/mL/H Supine : 0.2 - 2.8 ng/mL/H	Upright: 1.9 - 6   ng/mL/H Supine : 0.5 - 1.9 ng/mL/H

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GANGLIOSIDE (SULFATIDES, GM1, GM2, GM3, GD1a, GD1b, GD3, GT1a, GT1b, GQ1b) - IgG ANTIBODIES, SERUM

Modification and Additional information

Test code: 3212

PREVIOUS	CURRENT
GANGLIOSIDE ( GM1, GM2, GM3, GD1a, GD1b, GT1b, GQ1b) - IgG ANTIBODIES, SERUM	GANGLIOSIDE (SULFATIDES, GM1, GM2, GM3, GD1a, GD1b, GD3, GT1a, GT1b, GQ1b) - IgG ANTIBODIES, SERUM

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GANGLIOSIDE (SULFATIDES, GM1, GM2, GM3, GD1a, GD1b, GD3, GT1a, GT1b, GQ1b) - IgM ANTIBODIES, SERUM

Modification and Additional information

Test code: 2766

PREVIOUS	CURRENT
GANGLIOSIDE ( GM1, GM2, GM3, GD1a, GD1b, GT1b, GQ1b) - IgM ANTIBODIES, SERUM	GANGLIOSIDE (SULFATIDES, GM1, GM2, GM3, GD1a, GD1b, GD3, GT1a, GT1b, GQ1b) - IgM ANTIBODIES, SERUM

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INTERLEUKIN 4 (IL4), SERUM

Modification Units and Reference values

Test code: 1982

PREVIOUS Units and Reference values	CURRENT  Units and Reference values
Less than 13 ng/L	Less than 25 pg/mL

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HAMA [HUMAN ANTI MOUSE ANTIBODIES], SERUM

Modification Methodology and Reference Values

Test code: 1422

PREVIOUS Methodology  and Reference Values	CURRENT Methodology  and Reference Values
Indirect immunofluorescence Title: less than 1/80	Radioimmunoassay NEGATIVE: Less than 40,0 µg/L

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MOLECULAR STUDY LIMB-GIRDLE MUSCULAR DYSTROPHY-LGMD1C (CAV3) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4110

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Limb girdle muscular dystrophy (LGMD) constitutes a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. Rippling syndrome may be present. LGMD 1C is characterized by childhood onset. It has not been associated with cardiac problems. Serum creatine kinase (CK) activity can be markedly elevated. LGMD 1C is transmitted as an autosomal dominant form and is caused by mutation in the gene CAV3 that is located on chromosome 3p25.
Links:
OMIM Entry - # 607801 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
Orphanet- Autosomal dominant limb girdle muscular dystrophy type 1C LGMD1C
OMIM Entry - - 601253 - CAVEOLIN 3; CAV3

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MOLECULAR STUDY GENE VDR (POLYMORPHISM FOKI), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4109

Sample:	Whole blood - EDTA(2 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	20 days
Information:
Vitamin D3 (cholecalciferol), which is synthesized in the epidermis in response to ultraviolet radiation, and dietary vitamin D2 (ergocalciferol), which is synthesized in plants, are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D3, or calcitriol). Vitamin D receptor (VDR) is an intracellular hormone receptor that specifically binds 1,25(OH)2D3 and mediates its effects.

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MOLECULAR STUDY GENE VDR (POLYMORPHISM BSMI), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4108

Sample:	Whole blood - EDTA(2 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	20 days
Information:
Vitamin D3 (cholecalciferol), which is synthesized in the epidermis in response to ultraviolet radiation, and dietary vitamin D2 (ergocalciferol), which is synthesized in plants, are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D3, or calcitriol). Vitamin D receptor (VDR) is an intracellular hormone receptor that specifically binds 1,25(OH)2D3 and mediates its effects.

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MOLECULAR STUDY EHLERS-DANLOS SYNDROME TYPE III (TNXB) SECUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4104

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	35 days
Information:
Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. Onset can be at any age but it is difficult to assess in young children due to higher joint laxity at this age. The primary manifestation is hyperlaxity involving any joints: subluxations and dislocations are common and may occur spontaneously or following minor trauma. Hyperlaxity is more pronounced in younger patients and in females. Complications often include chronic pain affecting physical activity, fatigue, sleep disorders, early osteoarthritis and osteoporosis, and cardiovascular symptoms (chest pain, palpitations, postural instability). In most cases, one or both parents of an affected individual have some degree of joint laxity, easy bruising, or soft skin, and some of these symptoms occasionally seem to segregate within the patient's family. The underlying pathogenic mechanism is unknown. A small number of patients have been found to have mutations in TNXB gene (6p21.3). Transmission is autosomal dominant. It is not known whether penetrance is complete but there is highly variable expressivity. Some cases may be autosomal recessive.
Links:
OMIM Entry - # 130020 - EHLERS-DANLOS SYNDROME, TYPE III
Orphanet- Ehlers Danlos syndrome hypermobility type Ehlers Danlos syndrome type 3
OMIM Entry - - 600985 - TENASCIN XB; TNXB

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ANTIGEN PLASMODIUM, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4106

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Immunochromatography
Set Up Days:	Daily
Plazo de Entrega:	2 days

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MOLECULAR STUDY POLYCYSTIC LIVER DISEASE (SEC63) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4103

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	45 days
Information:
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) and can include abdominal distension, gastro-esophageal reflux, early satiety, dyspnea, decreased mobility and back pain due to hepatomegaly. Some patients are asymptomatic. Other complications (intracystic hemorrhage or infection, torsion or rupture of cysts) can cause acute abdominal pain. Liver function is usually normal. There is no portal hypertension. Some cases occur sporadically, but most are inherited as an autosomal dominant trait (ADPCLD). ADPCLD is caused in about 30-50% of cases by mutations in the PRKCSH or SEC63 genes. As not all cases of PCLD have a mutation in one of these genes, other not yet discovered genes and modes of transmission may exist.
Links:
OMIM Entry - # 174050 - POLYCYSTIC LIVER DISEASE; PCLD
Orphanet- Isolated polycystic liver disease
OMIM Entry - - 608648 - SEC63, S. CEREVISIAE, HOMOLOG OF; SEC63

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MOLECULAR STUDY POLYCYSTIC LIVER DISEASE (PRKCSH) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4102

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	45 days
Information:
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) and can include abdominal distension, gastro-esophageal reflux, early satiety, dyspnea, decreased mobility and back pain due to hepatomegaly. Some patients are asymptomatic. Other complications (intracystic hemorrhage or infection, torsion or rupture of cysts) can cause acute abdominal pain. Liver function is usually normal. There is no portal hypertension. Some cases occur sporadically, but most are inherited as an autosomal dominant trait (ADPCLD). ADPCLD is caused in about 30-50% of cases by mutations in the PRKCSH or SEC63 genes. As not all cases of PCLD have a mutation in one of these genes, other not yet discovered genes and modes of transmission may exist.
Links:
OMIM Entry - # 174050 - POLYCYSTIC LIVER DISEASE; PCLD
Orphanet- Isolated polycystic liver disease
OMIM Entry - - 177060 - PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; PRKCSH

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MOLECULAR STUDY - FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION (FBN1, TGFBR1, TGFBR2, ACTA2, MYH11) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4100

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	45 days

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MOLECULAR STUDY - FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION (ACTA2, MYH11) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4099

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	45 days
Information:
Familial thoracic aortic aneurysm and dissection (familial TAAD) is a disorder that involves problems with upper part of the aorta. In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. People with familial TAAD may develop aneurysms or aortic dissections at any time during their life. Aortic dissections usually cause severe, sudden chest pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias), or paralysis. Mutations in the ACTA2 gene have been identified in 14% of people with this disorder. This condition is inherited in an autosomal dominant pattern. People with mutations in the gene inherit an increased risk of thoracic aortic aneurysms and dissection, not the conditions themselves.

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REARRANGEMENT GENE BCR/ABL (P190) (QUANTITATIVE), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4098

Sample:	Not informed
Conservation:	Refrigerated
Method:	Nested PCR/ RT-PCR
Set Up Days:	Daily
Plazo de Entrega:	10 days
Information:
A direct RNA test is available to identify patients with a translocation of the ABL oncogene into the BCR gene on chromosome 22. The fused transcript of the two genes has been implicated in the malignant process of both chronic myeloid leukemia patients and acute lymphocytic leukemia patients. Qualitative/Quantitative direct RNA analysis for the BCR/ABL rearrangement is useful for prognostication of patients with CML or AML. Diagnosis: We used multiplex PCR for detection and real time- PCR for quantification.

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REARRANGEMENT BCR / ABL GENE -(P190) PHYLADELPHIA CHROMOSOME, WHOLE BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 4097

Sample:	Special tube - Consult CIC
Conservation:	Refrigerated
Method:	Nested PCR/ RT-PCR
Set Up Days:	Daily
Plazo de Entrega:	7 days
Information:
A direct RNA test is available to identify patients with a translocation of the ABL oncogene into the BCR gene on chromosome 22. The fused transcript of the two genes has been implicated in the malignant process of both chronic myeloid leukemia patients and acute lymphocytic leukemia patients. Qualitative/Quantitative direct RNA analysis for the BCR/ABL rearrangement is useful for prognostication of patients with CML or AML. Diagnosis: We used multiplex PCR for detection and real time- PCR for quantification.

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