SYNLAB En: May 2012

Thursday, May 31, 2012

CARBOXY-HEMOGLOBIN, WHOLE BLOOD

Modification Pre-analytical

Code Test: 517

Pre-analytical conditions PREVIOUS	Pre-analytical conditions CURRENT
Whole blood-EDTA	Whole blood-LITHIUM HEPARIN

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Wednesday, May 30, 2012

MOLECULAR BRANCHIOOTIRENAL BOR SYNDROME (SEQUENCING GENE EYA1), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3942

Sample:

Whole blood - EDTA (20 ml)

Conservation:

Refrigerated

Method:

Sequencing Method

Set Up Days:

Daily

TAT (Days):

60 days

Information:

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required.

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DENGUE VIRUS DNA (SUBTYPED), CEREBROSPINAL FLUID

New Test in CIC Catalog

Test Code: 3940

Sample:

Cerebrospinal Fluid - CSF(1ml)

Conservation:

Frozen

Method:

Real-Time PCR

Set Up Days:

Daily

TAT (Days):

12 days

Information:

We need clinical patient information

Find the record of the test by clicking here

DENGUE VIRUS DNA (SUBTYPED), SERUM

New Test in CIC Catalog

Test Code: 3939

Sample:

Serum (1 ml)

Conservation:

Frozen

Method:

Real-Time PCR

Set Up Days:

Daily

TAT (Days):

12 days

Information:

We need clinical patient information

Find the record of the test by clicking here

DENGUE VIRUS DNA, CEREBROSPINAL FLUID

New Test in CIC Catalog

Test Code: 3938

Sample:

Cerebrospinal Fluid - CSF(1ml)

Conservation:

Frozen

Method:

Real-Time PCR

Set Up Days:

Daily

TAT (Days):

12 days

Information:

We need clinical patient information

Find the record of the test by clicking here

MOLECULAR STUDY LYNCH SYNDROME (PMS2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3929

Sample:

Whole blood - EDTA (5 ml)

Conservation:

Refrigerated

Method:

Sequencing Method

Set Up Days:

Daily

TAT (Days):

40 days

Information:

Hereditary non-polyposis colon cancer (HNPCC), caused by a germline mutation in a mismatch repair gene or associated with tumors exhibiting MSI, is characterized by an increased risk of colon cancer and other cancers (e.g., of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, skin). Individuals with HNPCC have an approximately 80% lifetime risk for colon cancer. Germline mutations in MLH1 and MSH2 account for approximately 90% of detected mutations in families with HNPCC. Mutations in MSH6 have been reported in approximately 7%-10% of families with HNPCC. Mutations in PMS2 account for fewer than 5% of mutations in families with HNPCC.

Links:

Orphanet- Hereditary nonpolyposis colon cancer

OMIM Entry - -600259 - POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2

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MYCOBACTERIUM TUBERCULOSIS-RIFAMPIN RESISTANCE DETECTION, BIOLOGICAL SAMPLE

New Test in CIC Catalog

Test Code: 3928

Sample:

Biological Sample

Conservation:

Refrigerated

Method:

Real-Time PCR

Set Up Days:

Daily

TAT (Days):

7 days

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Friday, May 25, 2012

Non-working day, May 28

Notice that on May 28 our laboratory will be closed for local non-working day, except receipt of samples.Thank you.

Wednesday, May 23, 2012

FACTOR VII - ANTIGEN, PLASMA

Modification Reference Values

Test code: 2904

PREVIOUS Reference Values	CURRENT Reference Values
0.6 - 1.5 UI/mL	63-200%

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FACTOR II TUMORAL NECROSIS (TNF- alfa) , SERUM

Modification Reference Values

Test code: 2262

PREVIOUS Reference Values	CURRENT Reference Values
Less than 3.20 pg/mL	Less than 12.4 pg/mL

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GENOMIC STUDY OF INTEGRASE OF HIV-1, WHOLE BLOOD

Related information

Test: 3866

ADDITIONAL INFORMATION

- Resistance to integrase: RAL: Raltegravir, EVG: Elvitegravir (phase III of development), DGV: Dolutegravir (Phase III development).

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GENOMIC STUDY OF PROTEASE AND RT OF HIV-1, PLASMA

Related information

Test: 2765

ADDITIONAL INFORMATION

- Resistance to protease: ATV: Atazanavir, DRV: Darunavir, FPV: Fosamprenavir, IDV: Indinavir, LPV: Lopinavir, NFV: Nelfinavir, SQV: Saquinavir, TPV: Tipranavir

- Resistance to reverse transcriptase:

· Nucleoside: 3TC: Lamivudine; ABC: Abacavir, AZT: Zidovudine, D4T: Stavudine, DDI: Didanosine, FTC: Emtricitabine, TDF: Tenofovir

· Non-Nucleoside: EFV: Efavirenz; ETR: Etravirine, NVP: Nevirapine, RPV: Rilpivirine

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Tuesday, May 22, 2012

MOLECULAR STUDY RISK AGE-RELATED MACULAR DEGENERATION (AMD), BUCCAL SMEAR

New Test in CIC Catalog

Test Code: 3924

Sample:

Bucal smear

Conservation:

Room temperature

Method:

Real-Time PCR

Set Up Days:

Daily

TAT (Days):

10 days

Information:

The related macular degeneration (ARMD) is the leading cause of legal blindness in people over 55 years in the Western world. Several family studies have determined that susceptibility to this disease has a clear genetic influence ranging between 46% and 71%. Knowing the risk of AMD allows early detection and proper control eye that helps to slow or halt the progression of the disease. AMD is a chronic degenerative disease is a major public health problem, despite being largely unknown among the general population. It is estimated that the incidence of AMD in Spain each year exceeds the 26,000 new cases, remains the leading cause of legal blindness in the Western world in people over 55 years, one in three people suffer this disease to reach 75 years of life. Early diagnosis is key because without treatment, the disease may progress more quickly. Risk factors as: Age, family history of AMD, Genetics (different polymorphisms associated with disease), smoking, sex (women have a higher risk of AMD than men), ethnicity (Caucasian population is more likely to suffer AMD than African American or Hispanic), having AMD in one eye increases the likelihood of suffering in the other eye, hypertension and / or cardiovascular disease, eye features (such as colored iris: blue eyes), lens opacity, hyperopia or aphakia (no lens), obesity. The test genetic risk of developing AMD is based on the study of two groups of genes in DNA. The first group corresponds to certain components of the complement system and the second group is related to cellular oxidative stress. The complement system is an enzymatic cascade that occurs naturally in the body, whose function is to eliminate pathogens from the bloodstream by two different methods of action. Patients suffering from AMD showed an increase in complement activity, associated with an increased level of inflammation, capable of damaging the eye tissue. Furthermore the alterations in the oxidative balance, can generate free radicals capable of damaging seriously the cells and further retinal photoreceptors due to its low capacity for regeneration. For the important relationship of these processes with the course of the disease, determining the genetic susceptibility to suffering them allows us to classify the genetic risk of developing AMD associated with each patient. This test is recommended for the general population without any symptoms and people with risk factors. The test genetic risk of AMD combines the information encoded in DNA of patients with lifestyle to estimate the risk of the disease in different stages of age. The test result is classified into 5 groups at risk, with 1 being the lowest risk and 5 the highest.

Find the record of the test by clicking here

MOLECULAR STUDY RISK AGE-RELATED MACULAR DEGENERATION (AMD), BUCCAL SMEAR

New Test in CIC Catalog

Test Code: 3924

Sample:

Bucal smear

Conservation:

Room temperature

Method:

Real-Time PCR

Set Up Days:

Daily

TAT (Days):

10 days

Information:

The related macular degeneration (ARMD) is the leading cause of legal blindness in people over 55 years in the Western world. Several family studies have determined that susceptibility to this disease has a clear genetic influence ranging between 46% and 71%. Knowing the risk of AMD allows early detection and proper control eye that helps to slow or halt the progression of the disease. AMD is a chronic degenerative disease is a major public health problem, despite being largely unknown among the general population. It is estimated that the incidence of AMD in Spain each year exceeds the 26,000 new cases, remains the leading cause of legal blindness in the Western world in people over 55 years, one in three people suffer this disease to reach 75 years of life. Early diagnosis is key because without treatment, the disease may progress more quickly. Risk factors as: Age, family history of AMD, Genetics (different polymorphisms associated with disease), smoking, sex (women have a higher risk of AMD than men), ethnicity (Caucasian population is more likely to suffer AMD than African American or Hispanic), having AMD in one eye increases the likelihood of suffering in the other eye, hypertension and / or cardiovascular disease, eye features (such as colored iris: blue eyes), lens opacity, hyperopia or aphakia (no lens), obesity. The test genetic risk of developing AMD is based on the study of two groups of genes in DNA. The first group corresponds to certain components of the complement system and the second group is related to cellular oxidative stress. The complement system is an enzymatic cascade that occurs naturally in the body, whose function is to eliminate pathogens from the bloodstream by two different methods of action. Patients suffering from AMD showed an increase in complement activity, associated with an increased level of inflammation, capable of damaging the eye tissue. Furthermore the alterations in the oxidative balance, can generate free radicals capable of damaging seriously the cells and further retinal photoreceptors due to its low capacity for regeneration. For the important relationship of these processes with the course of the disease, determining the genetic susceptibility to suffering them allows us to classify the genetic risk of developing AMD associated with each patient. This test is recommended for the general population without any symptoms and people with risk factors. The test genetic risk of AMD combines the information encoded in DNA of patients with lifestyle to estimate the risk of the disease in different stages of age. The test result is classified into 5 groups at risk, with 1 being the lowest risk and 5 the highest.

Find the record of the test by clicking here

Monday, May 21, 2012

MOLECULAR STUDY CENTRONUCLEAR MYOPATHY (DNM2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3921

Sample:

Whole blood - EDTA (5 ml)

Conservation:

Refrigerated

Method:

Sequencing Method

Set Up Days:

¡

TAT (Days):

40 days

Information:

Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Marked ocular involvement including ptosis and ophthalmoparesis are common, whilst contractures other than those affecting the Achilles tendon and/or long finger flexors are rare. Cardiorespiratory function has been reported as normal in most cases. Patients with early onset may improve in terms of muscle strength but may develop restrictive respiratory impairment over time. Neuropathic signs (absence of tendon reflexes on neurological examination and fibrillations or reduction of the compound muscle action potential on electrophysiological examination) may be present. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible for AD-CNM.

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Friday, May 18, 2012

IgE SPECIFIC ANTIBODIES FOR MILLET JAPANESE (f57)

New Test in CIC Catalog

Test Code: 3920

Sample:

Serum (1 ml)

Conservation:

Refrigerated

Method:

ImmunoCAP (LOINC®: IMMUNOCAP)

Set Up Days:

Daily

TAT (Days):

1 days

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Thursday, May 17, 2012

Sending samples for coagulation tests

Every colour indicates a parameter and it´s group of parameters. An request that have more than one parameter from different groups, is necessary to send a tube (minimum 1 ml) per group.

Sample: Plasma-Citrate, minimum 1 ml for every parameter o group requested.

Código CIC	PARAMETER	GROUP

482	ACTIVATED PARTIAL THROMBOPLASTIN TIME (aPTT), Plasma	GROUP 1
793	THROMBIN TIME, Plasma
2133	PROTHROMBIN TIME, Plasma
3742	REPTILASE TIME, Plasma

1000	LUPUS ANTICOAGULANT (RUSSELL), PLASMA	GROUP 2

2562	FACTOR VII, Plasma	GROUP 3
2675	FACTOR V, Plasma
2682	FACTOR II, Plasma
2683	FACTOR X, Plasma

2660	FACTOR VIII, Plasma	GROUP 4
2676	FACTOR XII, Plasma
2689	VON WILLEBRAN FACTOR - ACTIVITY (RISTOCETIN COFACTOR), Plasma
2690	VON WILLEBRAN FACTOR - ANTIGEN, Plasma
2731	FACTOR XI, Plasma
2741	FACTOR IX, Plasma
2903	FACTOR XIII, Plasma

2836	FREE PROTIEN S - ANTIGEN, Plasma	GROUP 5
3084	PROTEIN C (RESISTANCE TO ACTIVATED PROTEIN C), Plasma
2135	PROTEIN C - ACTIVITY, Plasma
2136	PROTEIN S - ACTIVITY, Plasma

2780	PLASMINOGEN ACTIVITY, Plasma	GROUP 6

3223	PROTEINA C - ANTIGEN, Plasma	GROUP 7

3224	PROTEINA S TOTAL - ANTIGEN, Plasma	GROUP 8

3000	PFA - 100 , PLATELET HEMOSTATIC CAPACITY; WHOLE BLOOD	GROUP 9

131	ANTITHROMBIN III - ACTIVITY, Plasma	GROUP 10

Sample:	Whole blood - EDTA (20 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	60 days
Information:
Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required.

Sample:	Cerebrospinal Fluid - CSF(1ml)
Conservation:	Frozen
Method:	Real-Time PCR
Set Up Days:	Daily
TAT (Days):	12 days
Information:
We need clinical patient information

Sample:	Serum (1 ml)
Conservation:	Frozen
Method:	Real-Time PCR
Set Up Days:	Daily
TAT (Days):	12 days
Information:
We need clinical patient information

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	40 days
Information:
Hereditary non-polyposis colon cancer (HNPCC), caused by a germline mutation in a mismatch repair gene or associated with tumors exhibiting MSI, is characterized by an increased risk of colon cancer and other cancers (e.g., of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, skin). Individuals with HNPCC have an approximately 80% lifetime risk for colon cancer. Germline mutations in MLH1 and MSH2 account for approximately 90% of detected mutations in families with HNPCC. Mutations in MSH6 have been reported in approximately 7%-10% of families with HNPCC. Mutations in PMS2 account for fewer than 5% of mutations in families with HNPCC.
Links:
Orphanet- Hereditary nonpolyposis colon cancer
OMIM Entry - -600259 - POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Real-Time PCR
Set Up Days:	Daily
TAT (Days):	7 days

Sample:	Bucal smear
Conservation:	Room temperature
Method:	Real-Time PCR
Set Up Days:	Daily
TAT (Days):	10 days
Information:
The related macular degeneration (ARMD) is the leading cause of legal blindness in people over 55 years in the Western world. Several family studies have determined that susceptibility to this disease has a clear genetic influence ranging between 46% and 71%. Knowing the risk of AMD allows early detection and proper control eye that helps to slow or halt the progression of the disease. AMD is a chronic degenerative disease is a major public health problem, despite being largely unknown among the general population. It is estimated that the incidence of AMD in Spain each year exceeds the 26,000 new cases, remains the leading cause of legal blindness in the Western world in people over 55 years, one in three people suffer this disease to reach 75 years of life. Early diagnosis is key because without treatment, the disease may progress more quickly. Risk factors as: Age, family history of AMD, Genetics (different polymorphisms associated with disease), smoking, sex (women have a higher risk of AMD than men), ethnicity (Caucasian population is more likely to suffer AMD than African American or Hispanic), having AMD in one eye increases the likelihood of suffering in the other eye, hypertension and / or cardiovascular disease, eye features (such as colored iris: blue eyes), lens opacity, hyperopia or aphakia (no lens), obesity. The test genetic risk of developing AMD is based on the study of two groups of genes in DNA. The first group corresponds to certain components of the complement system and the second group is related to cellular oxidative stress. The complement system is an enzymatic cascade that occurs naturally in the body, whose function is to eliminate pathogens from the bloodstream by two different methods of action. Patients suffering from AMD showed an increase in complement activity, associated with an increased level of inflammation, capable of damaging the eye tissue. Furthermore the alterations in the oxidative balance, can generate free radicals capable of damaging seriously the cells and further retinal photoreceptors due to its low capacity for regeneration. For the important relationship of these processes with the course of the disease, determining the genetic susceptibility to suffering them allows us to classify the genetic risk of developing AMD associated with each patient. This test is recommended for the general population without any symptoms and people with risk factors. The test genetic risk of AMD combines the information encoded in DNA of patients with lifestyle to estimate the risk of the disease in different stages of age. The test result is classified into 5 groups at risk, with 1 being the lowest risk and 5 the highest.