RB1 (LSI 13q14) FISH, whole blood/bone marrow

Descriptive Modification

Test code: 3393

Effective update from dd/mm/aa

PREVIOUS	NEW
LSI 13q14 FISH, whole blood/bone marrow	RB1 (LSI 13q14) FISH, whole blood/bone marrow

   Find the record of the test by clicking here

Papillomavirus (HPV) DNA detection/typing, biological sample

Additional information Modification

Test code: 2252

Effective update from 01/07/15

PREVIOUS

NEW

The present study specifically amplified:             LOW-risk types: HPV-6, 11, 42, 43, 44.             HIGH-risk types: HPV-16, 18, 31, 33, 35, 39, 45, 51, 52,       56, 58, 59, 68.             MEDIUM-risk types: HPV-26, 53, 66, 70, 73, 82.

DNA extraction and amplification by Fluorescent Multiplex-PCR (MF-PCR) that amplifies specifically: Low-risk types: HPV-6,11 High-risk types:  HPV-16,18,31,33,35,39,45,51,52,56,58,59,66 and 68              Note: Recent epidemiological studies indicate that the E6/E7 mRNA may be a good candidate as a biomarker in the selection of HPV positive women with normal cytology, to be referred to colposcopy (J Clin Microbiol 2012 Jul; 50 (7): 2390 -6; PLoS One 2013; 8 (2)). This test is available in the laboratory.

   Find the record of the test by clicking here

Chédiak-Higashi syndrome (LYST) sequencing, whole blood

New Test in NOÛS Catalog

Test Code: 5234

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	45 days
Information:
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. Loss-of-function mutations in the LYST gene (1q42.1-q42.2) are associated with the severe, childhood-onset form of CHS. Missense mutations appear to underlie the atypical form. CHS follows an autosomal recessive pattern of inheritance. Genetic counseling should be provided to asymptomatic carriers and to affected adults.

   Find the record of the test by clicking here

Smith-Magenis syndrome (region 17p11.2) MLPA, whole blood

New Test in NOÛS Catalog

Test Code: 5226

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	25 days
Information:
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. SMS is typically a sporadic disorder caused either by a 17p11.2 deletion encompassing the retinoic acid-induced 1 (RAI1) gene (90%) or a mutation of the gene (10%).

   Find the record of the test by clicking here

1p36 microdeletion syndrome (1p36 region) MLPA, whole blood

New Test in NOÛS Catalog

Test Code: 5227

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	25 days
Information:
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency. 1p36 deletion syndrome is caused by a partial heterozygous deletion of mostly the distal part of the short arm of chromosome 1, with breakpoints ranging from 1p36.13 to 1p36.33. About 50% of cases are due to a de novo terminal 1p36 deletion, around 29% to an interstitial deletion; remaining cases comprise more complex chromosome rearrangements.

   Find the record of the test by clicking here

BORRELIA BURGDORFERI IgM ANTIBODIES, BIOLOGIC SAMPLE

Methodology and Reference values Modifications

Test code: 3740

Effective update from 22/06/15

PREVIOUS	NEW
ENZYME IMMUNOASSAY                NEGATIVE	INDIRECT IMMUNOFLUORESCENCE               NEGATIVE: Lower than 1/2

   Find the record of the test by clicking here

BORRELIA BURGDORFERI IgG ANTIBODIES

Methodology and Reference values Modifications

Test code: 3513

Effective update from 22/06/15

PREVIOUS	NEW
ENZYME IMMUNOASSAY                NEGATIVE	CHEMILUMINESCENCE                   NEGATIVE          : Less than 4.5 AU/ml       INDETERMINATE: Between 4.5 - 5.5 AU/ml       POSITIVE           : Greater or equal to 5.5 AU/ml

   Find the record of the test by clicking here

Risk index - first trimester screenning (PAPP-A, Free Beta-HCG) , serum

Reference values  Modification

Test code: 5181

Effective update from 19/06/15

PREVIOUS	NEW
We recommend further study, if the patient's Down syndrome risk is equal to or greater than 1 in 270.             We recommend further study, if the patient's Edwards' syndrome risk is equal to or greater than 1 in 50	We recommend further study, if the patient's Down syndrome risk is equal to or greater than 1 in 270.             We recommend further study, if the patient's Edwards' syndrome risk is equal to or greater than 1 in 250

   Find the record of the test by clicking here

LINK INDEX ( CALCULATION OF INTRATECAL IgG SYNTHESIS)

Erased test


Test code: 3192

Effective update from 17/06/15

Duplicate test
Alternative technique: 3190 LINK INDEX PARAMETERS

   Find the record of the test by clicking here

CITRIC ACID (SEMINAL PLASMA), SEMINAL FLUID

Reference values and Delivery Time Modification

Test code: 263

Effective update from 19/06/15

PREVIOUS	NEW
200 - 600 mg/dL       * Fuente:  Insert        day       Delivery term: 1 day	Greather than 300 mg/dL          * Fuente:  Insert             Delivery term: 3 days

   Find the record of the test by clicking here

ZINC- , SEMINAL FLUID

Method, Reference values and Delivery Time Modification

Test code: 390

Effective update from 19/06/15

PREVIOUS	NEW
Molecular Absortion Spectrometry   80 - 250 mg/L                   Delivery term: 2 days	Spectrophotometry                764 - 7644 µmol/L                       Delivery term: 4 days

   Find the record of the test by clicking here

ADENOSINE DEAMINASE (ADA) , CSF

Delivery Time Modification

Test code: 514

Effective update from 19/06/15

PREVIOUS	NEW
Delivery term: 1 day	Delivery term: 3 days

   Find the record of the test by clicking here

ADENOSINE DEAMINASE (ADA), PLEURAL FLUID

Delivery Time Modification

Test code: 513

Effective update from 19/06/15

PREVIOUS	NEW
Delivery term: 1 day	Delivery term: 3 days

   Find the record of the test by clicking here

ADENOSINE DEAMINASE, SERUM

Delivery Time Modification

Test code: 2036

Effective update from 19/06/15

PREVIOUS	NEW
Delivery term: 1 day	Delivery term: 3 days

   Find the record of the test by clicking here

DENOSINE DEAMINASE (ADA)

Delivery Time Modification

Test code: 3407

Effective update from 19/06/15

PREVIOUS	NEW
Delivery term: 1 day	Delivery term: 3 days

   Find the record of the test by clicking here

ADENOSINE DEAMINASE (ADA), BIOLOGICAL SAMPLE

Delivery Time Modification

Test code: 3510

Effective update from 19/06/15

PREVIOUS	NEW
Delivery term: 1 day	Delivery term: 3 days

   Find the record of the test by clicking here

FRUCTOSE, URINE

Delivery Time Modification

Test code: 3816

Effective update from 19/06/15

PREVIOUS	NEW
Delivery term: 1 day	Delivery term: 3 days

   Find the record of the test by clicking here

FRUCTOSE, SEMINAL FLUID

Reference values and Delivery Time Modification

Test code: 352

Effective update from  19/06/15

PREVIOUS	NEW
120- 360 mg/dL         * Fuente:  Insert                  Delivery term: 1 day	Greather than 150 mg/dL         * Fuente: Insert                 Delivery term: 3 days

   Find the record of the test by clicking here