Monday, November 26, 2012

MOLECULAR STUDY - ATAXIA WITH OCULOMOTOR APRAXIA TYPE 2 (SETX) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4086

Sample:
Whole blood EDTA (minimum 10 ml)
Conservation:
Refrigerated
Method:
Sequencing Method
Set Up Days:
Daily
Plazo de Entrega:
50 days
Information:
Ataxia-oculomotor apraxia-2 (AOA2) is a form of autosomal recessive cerebellar ataxia, a clinically and genetically heterogeneous group of neurodegenerative disorders. However, because oculomotor apraxia is only an occasional feature of AOA2, Koenig (2001) urged that it not be referred to as a form of AOA. Duquette et al. (2005) also emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1.
Links:

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MOLECULAR STUDY USHER TYPE 2A SYNDROME (USH2A) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4087

Sample:
Whole blood - EDTA (5 ml)
Conservation:
Refrigerated
Method:
Sequencing Method
Set Up Days:
Daily
Plazo de Entrega:
40 days
Information:
Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects high tones. Affected children have problems hearing high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type II do not have difficulties with balance caused by inner ear problems.
Links:

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MOLECULAR STUDY CHRONIC MYELOPROLIFERATIVE SYNDROMES (W515L/K-MPL GENE), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4085

Sample:
Whole blood / Bone marrow (5 ml)
Conservation:
Refrigerated
Method:
Multiplex PCR
Set Up Days:
Daily
Plazo de Entrega:
7 days
Links:

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Friday, November 23, 2012

INTERLEUKIN 18 (IL18), SERUM

New Test in CIC Catalog

Test Code: 4083

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

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PRO-INSULIN INTACT, SERUM/PLASMA


Modifications and Relative information

Test code: 2491

PREVIOUS

CURRENT 
 Relative information
 SERUM

SERUM/PLASMA (HEPARIN)
Refrigerated

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Thursday, November 22, 2012

TOTAL BETA-HEXOSAMINIDASE AND BETA-HEXOSAMINIDASAE A, SERUM


Modifications and Relative information

Test code: 2953

PREVIOUS

CURRENT 
 Relative information
LYSOSOMAL DISORDER (BETA-HEXOSAMINIDASE) STUDY, SERUM
TOTAL BETA-HEXOSAMINIDASE AND BETA-HEXOSAMINIDASAE A, SERUM
Fasting. Avoid hemolysis. Before centrifuging wait clot retraction. Collect the supernatant in another tube and freeze immediately.


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CHITOTRIOSIDASE, SERUM


Modification Sample and Relative information

Test code: 1479

PREVIOUS
Sample
CURRENT 
Sample and Relative information
Whole blood
Serum
19 - 208 nmol/min/mL
Fasting. Avoid hemolysis. Before centrifuging wait clot retraction. Collect the supernatant in another tube and freeze immediately.


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Monday, November 19, 2012

BONE ALKALINE PHOSPHATASE, SERUM


Modification Reference values

Test code: 4055

PREVIOUS
Reference values
CURRENT 
Reference values
MEN:                       6 - 30 µg/L
WOMEN 
       premenopause:  3 - 19 µg/L
      postmenopause: 6 - 26 µg/L
MEN:                      5.5 - 22.9 µg/L
WOMEN  
      premenopause:  4.9 - 26.6 µg/L
      postmenopause: 5.2 - 24.4 µg/L

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Friday, November 16, 2012

ALPHA GALACTOSIDASE A, SERUM


Modification Sample and Relative information

Test code: 1292

PREVIOUS
Sample
CURRENT 
Sample and Relative information
Not available
Serum
To send the sample, previously contact with CIC to determine shipping date.


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Tuesday, November 13, 2012

VORICONAZOLE, PLASMA


Modification Units and Reference values

Test code: 1559

PREVIOUS
Units and Reference values
CURRENT 
Units and Reference values
0.5 - 1.0 mg/L
1 - 5.5 µg/mL

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Friday, November 9, 2012

CA 72-4 (TUMOR MARKER), SERUM


Modification Methodology and Delivery time

Test code: 2052
PREVIOUS Methodology 
and Delivery time
CURRENT Methodology 
and Delivery time
Radioimmunoassay
10 days
Electrochemiluminescence
4 days


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Thursday, November 8, 2012

MELATONINE BIORHYTHM, SALIVA

New Test in CIC Catalog

Test Code: 4073

Sample:
Saliva
Conservation:
Refrigerated
Method:
Radioimmunoassay (LOINC®: RIA)
Set Up Days:
Daily
Plazo de Entrega:
15 days

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MELATONINE, SALIVA

New Test in CIC Catalog

Test Code: 4072

Sample:
Saliva
Conservation:
Refrigerated
Method:
Radioimmunoassay (LOINC®: RIA)
Set Up Days:
Daily
Plazo de Entrega:
15 days

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Wednesday, November 7, 2012

MELATONINE, SERUM


Modification Delivery Time 

Test code: 3325

PREVIOUS
Delivery Time 
CURRENT 
Delivery Time 
Delivery time: 27 days

Delivery time: 65 days


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Tuesday, November 6, 2012

MYCOBACTERIUM IgG ANTIBODIES, SERUM


Modification Reference values

Test code: 2069

PREVIOUS
Reference values
CURRENT 
Reference values

Negative: (Adults) Less than 250 U/mL
          (Childs) Less than 150 U/mL

  * To confirm active infection, sucessive samples must studied to evaluate the seroconversion.
NEGATIVE : Less than     8 U/mL
CUTT-OFF :          8 - 12 U/mL
POSITIVE : Greater than 12 U/mL
(New commercial kit)

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MYCOBACTERIUM IgA ANTIBODIES, SERUM


Modification Reference values

Test code: 3699

PREVIOUS
Reference values
CURRENT 
Reference values
NEGATIVE : Less than     200 U/mL
CUTT-OFF :          200 - 350 U/mL
POSITIVE : Greater than 350 U/mL
NEGATIVE : Less than     8 U/mL
CUTT-OFF :          8 - 12 U/mL
POSITIVE : Greater than 12 U/mL
(New commercial kit)

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CA 19-9 (TUMOR MARKER), SERUM


Modification Reference values

Test code: 863

PREVIOUS
Reference values
CURRENT 
Reference values
Less than 40 U/mL
Less than 33 U/mL


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T3 FREE, SERUM


Modification Reference values

Test code: 711

PREVIOUS
Reference values
CURRENT 
Reference values
1.5 - 4.1 pg/mL
1.8 - 4.2 pg/mL


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CA 125 (TUMOR MARKER), SERUM


Modification Reference values

Test code: 762

PREVIOUS
Reference values
CURRENT 
Reference values
Less than 35 U/mL
Less than 21 U/mL


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HAEMOPEXIN, SERUM


Modification Units and Reference values

Test code: 3029

PREVIOUS
Units and Reference values
CURRENT 
Units and Reference values
50 - 115 mg/dL
0.50 - 1.15 g/L

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