Mycobacterium spp DNA Identification, biological sample

Erased test

Test code: 7954

Nemonic Code: IDMIC

Effective update from 30/08/2022

Dear colleagues and collaborators,

 

We inform you that, due to the discontinuation of a reagent by our supplier, Mycobacterium spp identification (Code 7954) is being temporarily discontinued, being replaced by Mycobacterium tuberculosis complex and resistance DNA test (Code 8006).

The DNA Mycobacterium Tuberculosis Complex test is used to rule out infection by M.tuberculosis with the added advantage of also detecting resistance to isoniazid and rifampin.

 

In the event that detection of atypical mycobacteria is requested, common culture for mycobacteria detection is proposed as an alternative with the identification of positives and, if necessary, an antibiogram would be performed. For this test, a separate sample is needed, since the transport and storage conditions are not the same for culture and for molecular biology.

DEPLETION MITOCHONDRIAL DNA, MYOPATHIC FORM, SYNDROME · TK2 · MLPA

New Test in NOÛS Catalog

Test Code: 9674

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	22 days

   Find the record of the test by clicking here

Rett Syndrome (MECP2) MLPA, total blood

Description, Nemonic Code and Delivery Time Modification

Test code: 1953

Previous nemonic code: G3147

New nemonic code: G11193

Effective update from 30/08/2022

PREVIOUS	NEW
Rett Syndrome (MECP2) MLPA, total blood               Delivery term: 20 days       Version of Test: 2	RETT SYNDROME · MECP2 · MLPA  Delivery term: 22 days       Version of Test: 3

   Find the record of the test by clicking here

Factor XIII (Val3'Leu-F13A1) screening, total blood

Erased test

Test code: 3636 - Factor XIII (Val3'Leu-F13A1) screening, total blood

Alternative:

Test code: 9673 - PROTECTION AGAINST MYOCARDIAL INFARCTION AND VENOUS THROMBOSIS FACTOR XIII · F13A1(V34L) · HOT SPOT

Effective update from 29/08/2022

PROTECTION AGAINST MYOCARDIAL INFARCTION AND VENOUS THROMBOSIS FACTOR XIII · F13A1(V34L) · HOT SPOT

New Test in NOÛS Catalog

Test Code: 9673

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Hot Spot
Set Up Days:	Daily
Delivery term:	22 days

   Find the record of the test by clicking here

Hypophosphataemic Rickets (FGF23) sequencing, total blood

Description, Method and Delivery Time Modification

Test code: 4092

Effective update from 26/08/2022

PREVIOUS	NEW
Hypophosphataemic Rickets (FGF23) sequencing, total blood     Method: Sequencing           Delivery term: 25 days       Version of Test: 1	HYPOPHOSPHATEMY AD · FGF23 · SANGER   Method: Sanger Sequencing                 Delivery term: 32 days       Version of Test: 2

   Find the record of the test by clicking here

ADULT ONSET LEUCODYSTROPHY AD · LMNB1 · MLPA

New Test in NOÛS Catalog

Test Code: 9669

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	22 days

   Find the record of the test by clicking here

HEMOCHROMATOSIS · HFE(C282Y, H63D) · HOT SPOT

New Test in NOÛS Catalog

Test Code: 9668

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Hot Spot
Set Up Days:	Daily
Delivery term:	22 days
Information:
Haemochromatosis is characterised by a high and inappropriate absorption of iron in the gastrointestinal mucosa, resulting in excessive iron storage, particularly in the liver, skin, pancreas, heart, joints and testicles. The initial symptoms are abdominal pain, weakness, lethargy and weight loss. Hereditary haemochromatosis (HHC) can be detected by DNA analysis. Approximately 5% of all the haemochromatosis alleles present a mutation (C282Y) and two polymorphisms (H63D, S65C). The HHC test can be conducted on persons with and without family histories of the disorder. Detection and early diagnosis is important in order to treat the disease and prevent multi-organ damage due to the accumulation of iron. The analysis of DNA mutations is the only reliable method for diagnosis the HHC carriers. Screening of the mutations C282Y, H63D and S65C of the HFE gene is available in our laboratory. OTHER TESTS IN CATALOGUE 1818

   Find the record of the test by clicking here

ADULT ONSET LEUCODYSTROPHY AD · LMNB1 · SANGER

New Test in NOÛS Catalog

Test Code: 9659

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sanger sequencing
Set Up Days:	Daily
Delivery term:	32 days

   Find the record of the test by clicking here

IgE SPECIFIC ANTIBODIES FOR MULTIPLE fx72 (f269-f276-f270-f271)

Discontinued temporarily

Test code: 2600

Nemonic code: FX72

Effective update from 23/08/2022

Dear  collaborators,

Due to supply problems of the reagent necessary to carry out the following determination: IgE SPECIFIC ANTIBODIES FOR MULTIPLE fx72 (f269-f276-f270-f271)  .We are forced to temporarily suspend its availability from today and until a new date.

As soon as information is available about the possible date of normalization of the supply, it will be notified by means of a new communication.

We apologize for the inconvenience caused by this situation.

   Find the record of the test by clicking here

Rett Syndrome (ex.2,3,4 - MECP2) sequencing, total blood

Description, Method and Delivery Time Modification

Test code: 3573

Effective update from 26/08/2022

PREVIOUS	NEW
Rett Syndrome (ex.2,3,4 - MECP2) sequencing, total blood               Method: Sequencing Delivery term: 45 days       Version of Test: 1	RETT SYNDROME DE · MECP2 · SANGER                   Method: Sanger Sequencing              Delivery term: 32 days       Version of Test: 2

   Find the record of the test by clicking here

Spinocerebellar Ataxia, type 17, SCA17 (TBP) screening, total blood

Description and Reference values Modification

Test code: 1515

Previous nemonic: G3045

New nemonic: G11207

Effective update from 25/08/2022

PREVIOUS	NEW
Spinocerebellar Ataxia, type 17, SCA17 (TBP) screening, total blood         Reference values: Not detected.             Version of Test: 3	SPINOCEREBELLAR ATAXIA TYPE 17 · TBP · FRAGMENT A.                            Reference values: See attached report.           Version of Test: 4

   Find the record of the test by clicking here

TRYPTOPHAN, SERUM/PLASMA (National Only)

Sample Stability Modification (National Only)

Test code: 3968

Effective update from 19/08/2022

PREVIOUS	NEW
Refrigerated: 1 week        Frozen: 1 month	Frozen: 1 month

   Find the record of the test by clicking here

NOTICE: RESULTS DELIVERY TIME

Delay in Delivery of Results

Dear collaborators, 

We inform you that the samples recived in the laboratory between August 2nd and 11th will suffer a delay in the issuance of results of the CYTOKINE ASSAY PANEL FOR IMMUNE PROFILE (Test code 8953), these being available, if no incident arised, on September 1st.

Sorry for the inconvenience.

Reference values Modification

Test code: 4999

Effective update from dd/mm/aa

PREVIOUS	NEW
Version of Test: 1	Version of Test: XX

   Find the record of the test by clicking here

PANEL CUSTOM 1 - 4 GENES · PANEL · NGS

Erased Test

Test code: 7696 - PANEL CUSTOM 1 - 4 GENES · PANEL · NGS

 Alternative:

Test code: 9621 - PANEL CUSTOM 1 - 2 GENES · PANEL · NGS

Effective update from 19/08/2022

CUSTOM PANELS

Erased test

Test code: 7697 - PANEL CUSTOM 5 - 9 GENES · PANEL · NGS

Test code: 7673 - PANEL CUSTOM 10 - 19 GENES · PANEL · NGS

Test code: 9568 - PANEL CUSTOM +29 GENES · PANEL · NGS

Alternative:

Test code: 9655 - PANEL CUSTOM 3 - 50 GENES · PANEL · NGS

Effective update from 19/08/2022

PANEL CUSTOM + 500 GENES · PANEL · NGS

New Test in NOÛS Catalog

Test Code: 9657

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	42 days

   Find the record of the test by clicking here

PANEL CUSTOM 50 - 500 GENES · PANEL · NGS

New Test in NOÛS Catalog

Test Code: 9656

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	42 days

   Find the record of the test by clicking here

PANEL CUSTOM 3 - 50 GENES · PANEL · NGS

New Test in NOÛS Catalog

Test Code: 9655

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	42 days

   Find the record of the test by clicking here

Nonpolyposis Colon Cancer (MLH1) sequencing, total blood

Description and Delivery Time Modification

Test code: 7073

Effective update from 17/08/2022

PREVIOUS	NEW
Nonpolyposis Colon Cancer (MLH1) sequencing, total blood                   Delivery term: 60 days                   Version of Test: 1	HEREDITARY NON-POLYPOSIS COLORECTAL CANCER · MLH1 · NGS                          Delivery term: 32 days                   Version of Test: 2

   Find the record of the test by clicking here

Acute Myeloid Leukaemia (AML), panel 2 (8cen, del20q12, 11q23 (MLL), del7q31, AML1/ETO t(8;21), inv(16), PML/RARA t(15;17), del5q31(EGR1), BCR/ABL t(;22)) FISH, total blood/bone marrow

Description and Delivery time Modification

Test code: 3806

Effective update from 17/08/2022

PREVIOUS	NEW
Acute Myeloid Leukaemia (AML), panel 2 (8cen, del20q12, 11q23 (MLL), del7q31, AML1/ETO t(8;21), inv(16), PML/RARA t(15;17), del5q31(EGR1), BCR/ABL t(;22)) FISH, total blood/bone marrow          Delivery term: 7 days             Version of Test: 1	ACUTE MYELOID LEUKEMIA (AML) · PANEL · FISH Delivery term: 9 days                   Version of Test: 2

   Find the record of the test by clicking here

Mycobacterium spp DNA Detection, biological sample

Erased test

Test code: 1442 -  Mycobacterium spp DNA Detection, biological sample

Nemonic code: DNMS

Alternative:

Test code: 8006 - Mycobacterium tuberculosis complex DNA and resistance to Rifampicin and Isoniazid, biological sample

Nemonic code: MTCR

Effective update from 16/08/2022

TRAZADONE, SERUM

Method, Units, Reference values and Delivery Time Modification

Test code: 7585

Nemonic code: TRAZ

Effective update from 16/08/2022

PREVIOUS	NEW
Method: High Performance Liquid Chromatography Units: ng/mL Reference Values: 800 - 1600 ng/mL             Delivery term: 12 days             Version of Test: 11	Method: Liquid Chromatography/ Tandem Mass Spectometry (LC/MS-MS) Units: mg/L Reference Values: 0.7 - 1.0 mg/L                            Delivery term: 8 days             Version of Test: 12

   Find the record of the test by clicking here

Mycobacterium tuberculosis complex DNA and resistance to Rifampicin and Isoniazid, biological sample

Delivery Time Modification

Test code: 8006

Nemonic code: MTCR

Effective update from 16/08/2022

PREVIOUS	NEW
Delivery term: 3 days	Delivery term: 4 days

   Find the record of the test by clicking here

Porphobilinogen deaminase (erythrocytes), whole blood

Methodology, Reference values and Delivery time Modification

Test code: 5114

Nemonic code: PORDES

Effective update from 16/08/2022

PREVIOUS	NEW
Method: Spectrophotometry  Limits Reference:         Normal activity:Greater than 66 pmol/mg protein/30 minutes Boundary Line:57-66 pmol/mg protein/30 minutes Decreased activity:Less than 57 pmol/mg protein/30 minutes       Delivery term: 20 days       Version of Test: 5	Method: Flow Injection Analysis (FIA)                    Units: nmol/s/L  Reference Values: 7.30 - 15.80 nmol/s/L Delivery term: 10 days                                         Version of Test: 6

   Find the record of the test by clicking here