Test code: 267
PREVIOUS
Method
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CURRENT
Method
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High Performance Liquid Chromatography
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Spectrophotometry
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PREVIOUS
Method
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CURRENT
Method
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High Performance Liquid Chromatography
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Spectrophotometry
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PREVIOUS
Method
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CURRENT
Method
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High Performance Liquid Chromatography
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Spectrophotometry
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PREVIOUS
Reference values
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CURRENT
Reference values
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303-598 U(25ÂșC)/10 12E erythrocytes
V.L.B.:Reduction
in 70% of the activity.
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11188 - 16698 U/L
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New Test in CIC Catalog
Test Code: 4382
Sample: Biological Sample Conservation: Frozen Method: Nested PCR/ RT-PCR Set Up Days: Daily Plazo de Entrega: 6 daysFind the record of the test by clicking here
New Test in CIC Catalog
Test Code: 4383
Sample: HAIR Conservation: Room temperature Method: Liquid Chromatography/Tandem Mass Spectrometry (LOINC®: LC/MS-MS) Set Up Days: Daily Plazo de Entrega: 20 daysFind the record of the test by clicking here
New Test in CIC Catalog
Test Code: 4384
Sample: HAIR Conservation: Room temperature Method: Liquid Chromatography/Tandem Mass Spectrometry (LOINC®: LC/MS-MS) Set Up Days: Daily Plazo de Entrega: 20 daysFind the record of the test by clicking here
New Test in CIC Catalog
Test Code: 4380
Sample: Whole blood - EDTA (5 ml) Conservation: Refrigerated Method: Sequencing Method Set Up Days: Daily Plazo de Entrega: 45 days Information: Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). Fewer than 30 cases have been reported to date. The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip. Mutations have been found in the ADAMTSL2 (TYPE 1) and FBN1 (TYPE 2) genes. Transmission is autosomal recessive in the cases with ADAMTSL2 gene mutations and autosomal dominant in the cases with FBN1 mutations. Links:Find the record of the test by clicking here
New Test in CIC Catalog
Test Code: 4378
Sample: Serum (2 ml) Conservation: Refrigerated Method: Immunoblot (LOINC®: IB) Set Up Days: Daily Plazo de Entrega: 6 daysFind the record of the test by clicking here
New Test in CIC Catalog
Test Code: 4371
Sample: Cerebrospinal Fluid - CSF(1ml) Conservation: Refrigerated Method: Indirect fluorescent antibody (LOINC®: IFA) Set Up Days: Daily Plazo de Entrega: 7 daysFind the record of the test by clicking here
PREVIOUS
Reference Values and Delivery term
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CURRENT
Reference Values and Delivery term
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NEGATIVE
NOTE:
Please note that a negative result does not exclude the diagnosis of Devic's
disease.
Delivery term: 25 days
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Not detected
NOTE: Please note that a negative result does not exclude the diagnosis of Devic's disease.
Delivery term: 7 days
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PREVIOUS
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CURRENT
Relative information
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SERINE 995 – 1624 ”mol/g creatinine
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SERINE 211 – 1624 ”mol/g creatinine
The
minimum value in children serine in urine were related to values
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PREVIOUS
Delivery Time
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CURRENT
Delivery Time
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Delivery time: 2 days
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Delivery time: 3 days
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PREVIOUS
Delivery Time
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CURRENT
Delivery Time
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Delivery time: 3 days
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Delivery time: 5 days
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PREVIOUS
Delivery Time
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CURRENT
Delivery Time
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Delivery time: 20 days
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Delivery time: 8 days
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New Test in CIC Catalog
Test Code: 4374
Sample: Serum (1 ml) Conservation: Refrigerated Method: Gas Chromatography (LOINC®: GS) Set Up Days: Daily Plazo de Entrega: 15 daysFind the record of the test by clicking here
New Test in CIC Catalog
Test Code: 4372
Sample: Biological Sample Conservation: Refrigerated Method: Real-Time PCR Set Up Days: Daily Plazo de Entrega: 6 daysFind the record of the test by clicking here
New Test in CIC Catalog
Test Code: 4373
Sample: Serum (1 ml) Conservation: Refrigerated Method: Radioimmunoassay (LOINC®: RIA) Set Up Days: Daily Plazo de Entrega: 7 daysFind the record of the test by clicking here
PREVIOUS
Delivery Time
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CURRENT
Delivery Time
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Delivery time: 47 days
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Delivery time: 60 days
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New Test in CIC Catalog
Test Code: 4368
Sample: Whole blood EDTA (10 ml) Conservation: Refrigerated Method: Sequencing Method Set Up Days: Daily Plazo de Entrega: 30 days Information: Mutations in the CDKL5 gene cause the early-onset seizure variant of Rett syndrome(Hanefeld variant), an atypical form of Rett syndrome. This severe form of the disorder includes many of the features of classic Rett syndrome (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements), but also causes recurrent seizures beginning in infancy (in the first months of life with subsequent development of RTT features). Mutations in the CDKL5 gene can also cause a disorder known as X-linked infantile spasm syndrome. Like the early-onset seizure variant of Rett syndrome, X-linked infantile spasm syndrome is characterized by recurrent seizures called infantile spasms that begin in the first year of life. Children with this condition also have intellectual disability. X-linked infantile spasm syndrome caused by CDKL5 gene mutations occurs more often in females, but it has been identified in a small number of males. Links:Find the record of the test by clicking here
New Test in CIC Catalog
Test Code: 4370
Sample: Serum/CSF Conservation: Refrigerated Method: Isoelectrofocusing Set Up Days: Daily Plazo de Entrega: 9 daysFind the record of the test by clicking here
New Test in CIC Catalog
Test Code: 4369
Sample: Serum (1 ml) Conservation: Frozen Method: HYBRITECH Beckman Coulter Set Up Days: Daily Plazo de Entrega: 10 daysFind the record of the test by clicking here
PREVIOUS
Reference values
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CURRENT
Reference values
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Basal : < 10 ”U/mL
Stimulated samples: > 20 ”U/mL
Growth hormone stimulation tests should induce
a
peak of greater than 14 ”U/mL;lower values
suggest growth
hormone deficiency.
For children, some experts consider values of
14-20 ”U/mL
are equivocal and only peak values of greater
than 20 ”U/mL
as truly normal.
For suppression testing, normal subjects have
growth hormone
concentrations of less than 1 ”U/mL within 2
hours of
ingestion of a 75 or 100 gram glucose dose.
Patients with
acromegaly fail to show normal suppression.
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Baseline:
MEN : Less than 9 mUI/L
WOMEN: Less than 24 mUI/L
(*conversion factor: mUI/L / 3 = ng/mL)
Functional test:
GRF, Exercise, Exercise + Propranolol, Exercise + L-DOPA, L-DOPA, Clonidine,Arginine or Insulin:
In all tests, must be obtained a difference between the maximum and baseline at least of 14 mUI/L.
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New Test in CIC Catalog
Test Code: 4361
Sample: amygdalar swab Conservation: Refrigerated Method: Immunoassay (LOINC®: IA) Set Up Days: Daily Plazo de Entrega: 3 daysFind the record of the test by clicking here
PREVIOUS
Delivery Time
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CURRENT
Delivery Time
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Delivery time: 90 days
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Delivery time: 60 days
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