MOLECULAR STUDY OF CYTOCHROME P450 (CYP450) (MAIN ENZYMES OF THE MICROSOMAL OXIDATIVE INVOLVED IN PHARMACOGENOMIC RESPONSE), SEQUENCING, BIOLOGICAL SAMPLE

New Test in CIC Catalog

Test Code: 4316

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	20 days
Information:
The major enzymes responsible for the metabolism of many drugs belong to the family of Cytochrome P450 (CYP450). In humans have been described at least 18 families and 44 subfamilies CYP450 xenobiotic metabolizing of which families CYP1, CYP2 and CYP3 are those that have a greater importance in drug metabolism. Recently revised the route of elimination of the 200 top-selling drugs by prescription and found that about 80% of drugs are metabolized by the families 1, 2 and 3 of CYP450 and make the greatest contribution by CYP3A4 / 5 (37%), CYP2C9 (17%), CYP2D6 (15%), CYP2C19 (10%), CYP1A2 (9%). Many of these enzymes have polymorphisms that cause changes in the expression, activity or selectivity of the enzyme and are reflected in the variety of responses to drugs. Genetic analysis of these polymorphisms in CYP3A4, CYP3A5, CYP2C9, CYP2D6, CYP2C19, and CYP1A2, is essential for the metabolism of many drugs currently used in many different ailments
Links:
OMIM Entry - + 124060 - CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2
OMIM Entry - - 124010 - CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4
OMIM Entry - - 124020 - CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
OMIM Entry - - 124030 - CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6
OMIM Entry - - 601130 - CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
OMIM Entry - - 605325 - CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5

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SQUAMOUS CELL CARCINOMA (SCC), SERUM

Modification Method and  Reference Values 

Test code: 2043

PREVIOUS   Method and Reference Values	CURRENT  Method  and Reference Values
MICROPARTICLE ENZYME IMMUNOASSAY Less than 1.5 ng/mL	ENZYME IMMUNOASSAY Less than 1.2 ng/mL

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HIBRIDIZATION IN SITU FISH - CEP 8 , TOTAL BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 4315

Sample:	Whole blood - Heparin /Bone marrow (5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
Plazo de Entrega:	9 days

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HIBRIDIZATION IN SITU FISH - CEP 3 (p11.1;q11.1) , TOTAL BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 4314

Sample:	Whole blood - Heparin /Bone marrow (5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
Plazo de Entrega:	9 days

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HIBRIDIZATION IN SITU FISH - LSI 20q12, TOTAL BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 4313

Sample:	Whole blood - Heparin /Bone marrow (5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
Plazo de Entrega:	9 days

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MOLECULAR STUDY SCAPULOPERONEAL SYNDROME, X-LINKED DOMINANT TYPE, GENE FHL1, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4308

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. The identification of FHL1, MHC7, and Des mutations in patients with scapuloperoneal myopathy suggests that myofibrillary disarray may be a common feature of Scapuloperoneal syndrome.
Links:
OMIM Entry - # 300695 - SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM
OMIM Entry - - 300163 - FOUR-AND-A-HALF LIM DOMAINS 1; FHL1

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MOLECULAR STUDY SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, GENE DES, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4309

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. The identification of FHL1, MHC7, and Des mutations in patients with scapuloperoneal myopathy suggests that myofibrillary disarray may be a common feature of Scapuloperoneal syndrome.
Links:
OMIM Entry - # 181400 - SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK
OMIM Entry - - 125660 - DESMIN; DES

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MOLECULAR STUDY SCAPULOPERONEAL SYNDROME, MIOPATHIC TYPE, MYH7 GENE, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4310

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	47 days
Information:
MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive. MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta (?)-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue.
Links:
OMIM Entry - # 181430 - SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM
OMIM Entry - - 160760 - MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7

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MOLECULAR STUDY LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY (SURF1 GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4307

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Leigh syndrome is a severe neurological disorder characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. Leigh syndrome can be caused by mutations in one of over 30 different genes. Most genes associated with Leigh syndrome are involved in the process of energy production in mitochondria. Disruption of complex IV, also called cytochrome c oxidase or COX, is the most common cause of Leigh syndrome. The most frequently mutated gene in COX-deficient Leigh syndrome is called SURF1.
Links:
OMIM Entry - # 256000 - LEIGH SYNDROME; LS
OMIM Entry - - 185620 - SURFEIT 1; SURF1

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PHENOL

Modification Method  and  Delivery time 

Test code: 977

PREVIOUS   Method, Reference Values and  Delivery time	CURRENT  Method, Reference Values and  Delivery time
HIGH PERFORMANCE LIQUID CHROMATOGRAPHY Less than:              20 mg/g creatinine B.E.I.:                  250 mg/g creatinine B.L.V.(final shift): 250 mg/g creatinine Delivery term: 6 days	GAS CHROMATOGRAPHY Unexposed:  Less than 10 mg/g creatinine B.E.I.(for phenol):      120 mg/g creatinine Delivery term: 10 days

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PENTACHLORPHENOL, URINE

Modification Method  and  Delivery time 

Test code: 6048

PREVIOUS   Method and  Delivery time	CURRENT  Method and  Delivery time
HIGH PERFORMANCE LIQUID CHROMATOGRAPHY Delivery term: 6 days	GAS CHROMATOGRAPHY Delivery term: 10 days

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MOLECULAR STUDY FAMILIAL SPASTIC PARAPLEGLYA SPG1 (L1CAM GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4306

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	37 days
Information:
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Clinically, HSPs can be divided into two main groups: pure and complex forms. Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint position sensation. Complex HSP forms are characterized by the presence of additional neurological or non-neurological features. SPG 17 is a complex HSP form characterized by progressive weakness and wasting mainly in the hands and feet. All X-linked HSPs are complex forms. SPG1 (see L1 Syndrome) is characterized by hydrocephalus, intellectual disability, spasticity of the legs, and adducted thumbs. The phenotypic spectrum of L1 syndrome includes X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome (mental retardation, aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs), SPG1 (X-linked complicated hereditary spastic paraplegia type 1), and X-linked complicated corpus callosum agenesis.
Links:
OMIM Entry - # 303350 - MASA SYNDROME
OMIM Entry - - 308840 - L1 CELL ADHESION MOLECULE; L1CAM

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MOLECULAR STUDY IN CHRONIC MIELOID LEUKEMIA (T315I MUTATION, BCR-ABL GENE), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4305

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	22 days
Information:
Chronic myelogenous leukemia (CML) is a hematological stem cell disorder caused by increased and unregulated growth of myeloid cells in the bone marrow, and the accumulation of excessive white blood cells. Abelson tyrosine kinase (ABL) is a non-receptor tyrosine kinase involved in cell growth and proliferation and is usually under tight control. However, 95% of CML patients have the ABL gene from chromosome 9 fused with the breakpoint cluster (BCR) gene from chromosome 22, resulting in a short chromosome known as the Philadelphia chromosome. This Philadelphia chromosome is responsible for the production of BCR-ABL, a constitutively active tyrosine kinase that causes uncontrolled cellular proliferation. An ABL inhibitor, imatinib, was approved by the FDA for the treatment of CML, and is currently used as first line therapy. However, a high percentage of clinical relapse has been observed due to long term treatment with imatinib. A majority of these relapsed patients have several point mutations at and around the ATP binding pocket of the ABL kinase domain in BCR-ABL. In order to address the resistance of mutated BCR-ABL to imatinib, 2(nd) generation inhibitors such as dasatinib, and nilotinib were developed. These compounds were approved for the treatment of CML patients who are resistant to imatinib. All of the BCR-ABL mutants are inhibited by the 2(nd) generation inhibitors with the exception of the T315I mutant. Several 3(rd) generation inhibitors such as AP24534, VX-680 (MK-0457), PHA-739358, PPY-A, XL-228, SGX-70393, FTY720 and TG101113 are being developed to target the T315I mutation.
Links:
OMIM Entry - # 608232 - LEUKEMIA, CHRONIC MYELOID; CML
OMIM Entry - - 151410 - BREAKPOINT CLUSTER REGION; BCR

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HIBRIDIZATION IN SITU MAFB/IGH t(14;20), TOTAL BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 4304

Sample:	Whole blood - Heparin /Bone marrow (5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
Plazo de Entrega:	9 days

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HIBRIDACION IN SITU FISH LSI IgH/MAF t(14;16), WHOLE BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 4303

Sample:	Whole blood - Heparin /Bone marrow (5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
Plazo de Entrega:	9 days

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FIBROBLAST GROWTH FACTOR 23, PLASMA

Modification Reference values

Test code: 1321

PREVIOUS Reference values	CURRENT  Reference values
34.0-96.0 kRU/L Indicative Values (n = 39)	WOMEN: -Under   40 years:  21 – 91  kRU/L -Greater 40 years: 44 – 140 kRU/L MEN:  34 – 96 kRU/mL CHILDREN: - 5   - 10 years:   39 – 41 kRU/L - 10 - 15 years:   25 – 73 kRU/L

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ISOFORMS OF SIALOTRANSFERRINS, SERUM

Modification Method and  Reference Values 

Test code: 3148

PREVIOUS   Method	CURRENT  Method
AGAROSE ELECTROPHORESIS	HIGH PERFORMANCE LIQUID CHROMATOGRAPHY

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VITAMIN B1 (THIAMINE), WHOLE BLOOD

Modification  Reference Values and  Delivery term 

Test code: 2231

PREVIOUS   Reference Values and  Delivery term	CURRENT  Reference Values and  Delivery term
2.0 - 7.5 µg/dL Delivery term: 5 days	3.0 - 9.5 µg/dL Delivery term: 12 days

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MOLECULAR STUDY BARAKAT SYNDROME (GATA3 GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4302

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	37 days
Information:
The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. The exact prevalence is unknown, but the disease is considered to be very rare, with about two dozen patients reported so far. Patients may present at any age with hypocalcemia, tetany, or afebrile convulsions. Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease manifestations include nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria and renal scarring. The defect in the majority of cases was mapped to chromosome 10p (10pter-p13 region or 10p14-p15.1). Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3, or mutations in the GATA3 gene appear to be the underlying cause of this syndrome. Inheritance is probably autosomal dominant.
Links:
OMIM Entry - # 146255 - HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR
OMIM Entry - - 131320 - GATA-BINDING PROTEIN 3; GATA3

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PHENYLGLYOXILIC ACID, URINE

Test Code: 6028

Discontinued for technical reason.

                    We can offer : 846 MANDELIC ACID AND PHENILGLIOXILIC ACID, URINE

MANDELIC ACID, URINE

Erased test in CIC Catalog

Test Code: 6034

Discontinued for technical reason.

                    We can offer : 846 MANDELIC ACID AND PHENILGLIOXILIC ACID, URINE

MOLECULAR STUDY OSTEOGENESIS IMPERFECTA (COL1A1, COL1A2 GENES) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4218

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	62 days
Information:
Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. Prevalence is estimated at between 1/10,000 and 1/20,000. Age at diagnosis depends on the severity of the disease. Five clinically distinct types of OI have been identified. The most clinically relevant characteristic of all types of OI is bone fragility, which manifests as multiple spontaneous fractures. Osteogenesis imperfecta type II is lethal, type III is severe, types IV and V are moderate, and type I is mild (see these terms). Type I is nondeforming with normal height or mild short stature, blue sclera, and no dentinogenesis imperfecta (DI; see this term). Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and DI. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and DI. Type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplastic callus, white sclera, and no DI. Other genetically different types have been observed (types VI to IX) but they are not clinically different from types II-IV. In 95% of cases, OI is caused by mutations in the COL1A1 and COL1A2 genes (17q21.33 and 7q21.3) encoding the alpha1 and alpha2 chains of type 1 collagen. These mutations can cause all five clinical types of OI. Transmission is autosomal dominant.
Links:
OMIM Entry - # 166200 - OSTEOGENESIS IMPERFECTA, TYPE I
OMIM Entry - # 166210 - OSTEOGENESIS IMPERFECTA, TYPE II
OMIM Entry - # 166220 - OSTEOGENESIS IMPERFECTA, TYPE IV
OMIM Entry - # 259420 - OSTEOGENESIS IMPERFECTA, TYPE III
OMIM Entry - + 120150 - COLLAGEN, TYPE I, ALPHA-1; COL1A1
OMIM Entry - - 120160 - COLLAGEN, TYPE I, ALPHA-2; COL1A2

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TRANS - MUCONIC ACID, URINE

Modification Reference Values and Delivery term

Test code: 845

PREVIOUS   Reference Values and Delivery term	CURRENT   Reference Values and Delivery term
B.E.I.: Less than 4.5 mg/g creatinine B.L.V.(final shift):          4.5 mg/g creatinine Delivery term: 6 days	B.E.I.: (final shift for benzene) : 2 mg/L Delivery term: 10 days

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