HEREDITARY HYPERFERRITINEMIA - CATARACT, SYNDROME OF · FTL (IRE region) · HOT SPOT

New Test in NOÛS Catalog

Test Code: 10100

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sanger sequencing
Set Up Days:	Daily
Delivery term:	22 days

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NEUROFERRINOPATHY · FTL · SANGER

New Test in NOÛS Catalog

Test Code: 10099

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sanger sequencing
Set Up Days:	Daily
Delivery term:	32 days

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IgE SPECIFIC ANTIBODIES (c201) (Cefaclor, Cefalexin, Cefotaxime, Cefuroxime)

Erased Test 

Test code: 6301

Mnemonic code: C201

Effective update from 07/10/2025

Alternative test: 

    - 3354 (CFLX) IgE SPECIFIC ANTIBODIES FOR CEFALEXINA (C309), SERUM

    - 6294 (C308) IgE SPECIFIC ANTIBODIES FOR CEFUROXIME (c308), SERUM

    - 2522  (C7) IgE SPECIFIC ANTIBODIES FOR CEFACLOR (c7), SERUM

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FG Onco Lapatinib, biological sample

Erased Test

Test code: 4813
Mnemonic code: G1822

Effective update from 07/10/2024

Alternative test: 1089 (G9009) BIOMARKERS IN SOLID TUMORS · HER2/NEU (ERBB2) · FISH

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FG NEURO COMPLETE

Erased Test 

Test code: 8888
Mnemonic code: G1808

Effective update from 07/10/2024

Alternative test: 10084 (G18020) NEURO PGx GENE PANEL

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RIBAVIRINA, SERUM

Description, Sample, Method, Reference values and Delivery Time Modification

Test code: 1182
Mnemonic code: RIBAV

Effective update from 30/09/2024

PREVIOUS	NEW
Description: RIBAVIRINA, SERUM Sample: Frozen Serum Method: High Performance Liquid Chromatography Reference Values: Therapeutic range: 5.80 - 17.80 mg/L Delivery term: 31 days  Version of Test: 8	Description: RIBAVIRINA, PLASMA Sample: Frozen plasma-EDTA (1 month stability) Send protected from light. Method: Liquid Chromatography/Tandem Mass Spectrometry (LC-MS/MS) Reference Values: Therapeutic range: 2.5 - 3.0 mg/L Delivery term: 10 days Version of Test: 9

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HYPERINSULINEMIA · PANEL · NGS

New Test in NOÛS Catalog

Test Code: 10098

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	42 days
Information:

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LISTERIA (L.MONOC.) Type 1 IgM ANTIBODIES, SERUM

Reference values Modification

Test code: 2226
Mnemonic code: LISM

Effective update from 30/09/2024

PREVIOUS	NEW
Negative: Titer less than 1/80       *Source: Insert             Version of Test: 4	Negative: Titer less than 1/100   *Source: Insert   Version of Test: 5

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LISTERIA (L.MONOC.) Type 1 IgG ANTIBODIES, SERUM

Reference values Modification

Test code: 2227
Mnemonic code: LIST

Effective update from 30/09/2024

PREVIOUS	NEW
Negative: Titer less than 1/80       * Source: PNT, Insert             Version of Test: 3	Negative: Titer less than 1/100   *Source: Insert   Version of Test: 4

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LISTERIA (L.MONOC.) Type 4b IgM ANTIBODIES, SERUM

Reference values Modification

Test code: 2228
Mnemonic code: LIS4M

Effective update from 30/09/2024

PREVIOUS	NEW
Negative: Titer less than 1/80       * Source: PNT, Insert             Version of Test: 3	Negative: Titer less than 1/100   *Source: Intert   Version of Test: 4

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LISTERIA (L.MONOC.) Type 4b IgG ANTIBODIES, SERUM

Reference values Modification

Test code: 2229
Mnemonic code: LIS4G

Effective update from 30/09/2024

PREVIOUS	NEW
Negative: Titer less than 1/5       *Source: PNT, Insert             Version of Test: 3	Negative: Titer less than 1/100   *Source: Insert   Version of Test: 4

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AZOOSPERMIA/SEVERE OLIGOZOOSPERMIA �� Y CHROMOSOME (AZFa, AZFb, AZFc MICRODELETIONS) · FRAGMENTS A.

Commercial Kit Change – Results Report Update

Test code: 2674
Mnemonic code: AZF

Effective update from 30/09/2024

Starting on September 30th, and as a result of the change in the CE IVD commercial kit, the way study results are reported will be modified, in compliance with the current scientific guidelines on the matter.

Below is an example of the report:

GENETIC STUDY OF CHROMOSOME Y MICRODELETIONS - REGIONS AZFa, AZFb, AZFc 

Study information and sample

Sample type received       EDTA whole blood

Study                                REGIONS: AZFa, AZFb, AZFc

                                         MIM NUMBER: 415000

                                         INHERITANCE: Y-LINKED

Result

The lack of amplification for sY254 and sY255 markers on chromosome Y suggest the presence of a deletion in AZFc region spanning DAZ gene. The pattern of amplification for extension markers is furthermore consistent with the presence of a complete AZFc deletion (b2/b4).

STS analysed markers (region)	Result
ZFXY (Yp11.2, Xp22.11)	Present
sY14 (Yp11.2)	Present
sY86 (Yq11.221, AZFa)	Present
sY84 (Yq11.221, AZFa)	Present
sY127 (Yq11.223, AZFb)	Present
sY134 (Yq11.223, AZFb)	Present
sY254 (Yq11.23, AZFc, DAZ gene specific)	Absent
sY255 (Yq11.23, AZFc, DAZ gene specific)	Absent
Extension	Result
sY160 (Yq12, heterochromatin)	Present

This result has been confirmed by repeating the analysis on the same sample.

Interpretation

Results are consistent with the presence of a complete removal of the AZFc region on Y chromosome (b2/b4) associated with non-obstructive azoospermia or severe oligozoospermia, being the most likely cause of the patient’s phenotype. 

Complete deletion of AZFc region is associated with a variable phenotype as it is generally compatible with residual spermatogenesis. In case of azoospermia and AZFc region interstitial deletion (as the present one) the probability of obtaining spermatozoa by TESE and conceiving offspring by ICSI is approximately 50%. It is important to assess the possibility of deletion transmission to all male offspring (but none of his female offspring) before performing IVF-ICSI.

Genetic counselling is recommended as well as karyotype analysis for the detection of 45,X0/46,XY mosaicism and testing of the male relatives.

 

Y-chromosomal microdeletions are the second most frequent cause of male infertility, they occur in about 1/4000 men frequency in the general population, significantly increased in infertile men (about 5%). The most frequent deletion type is AZFc region deletion (~80%) followed by AZFa (0.5–4%), AZFb (1–5%) and AZFbc (1–3%) deletion.

 

This report should be evaluated by a specialist in the context of all available clinical and family information in conjunction with other laboratory findings.

 

Test method

DNA extraction followed by fluorescent PCR amplification (CE-IVD method) of the following markers: ZFXY (located on the short arm of chromosomes X and Y), sY14 (located in Yp11.2),  sY86, sY84, sY82, sY83, sY1065 and sY88 (located in AZFa region), sY127, sY134, sY105, sY121, sY1192 and sY153 (located in AZFb region), sY254 and sY255 (specific for DAZ gene in AZFc region), sY160 (located in heterochromatin).

ZFXY amplification as internal PCR control. Detection and fragment analysis is performed by capillary electrophoresis on Applied Biosystems automated sequencer.

 

Test limitations

Sensitivity for detection of clinically relevant deletions in all three AZF regions is approximately >97%. Specificity is >99%. In case clinical suspicion persists, contacting laboratory to evaluate further studies is recommended.

The assay does not exclude point mutations or rearrangements in DAZ gene, or other possible microdeletions or rearrangements in genomic locations other than analysed. 

Karyotype study is recommended in case it has not been performed.

 

References

Lange J et al. (2008) Nucleic Acids Res 36(Database issue): D809-D814.

Wu Q et al. (2011) Asian J Androl. 13(6):877-880.

Krausz C et al. (2014) Andrology. 2(1):5-19

Krausz C et al. (2023) Andrology; 1-18. 

 

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FG Cardio Arrhythmia

Erased Test 

Test code: 4894

Mnemonic code:  G1800

Effective update from 27/09/2024

 Alternative test: 4897 (G1802) - FG CARDIO COMPLETE

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FG Cardiovascular

Erased Test

Test code: 4896
Mnemonic code: G1804

 
Effective update from 27/09/2024

Alternative test: 4897 (G1802) -  FG CARDIO COMPLETE

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FG Cardio Hypertension

Erased Test

Test code: 4895

Mnemonic code: G1803

Effective update from 27/09/2024

Alternative test: 4897 (G1802) - FG CARDIO COMPLETE

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FCC-CARDIO CUSTOM PANEL

Erased Test 

Test code: 7979

Mnemonic code:  G7422

Effective update from 27/09/2024

Alternative test: 4897 (G1802) - FG CARDIO COMPLETE

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FG Neuro Psychosis

Erased Test

Test code: 4862

Mnemonic code:  G1811

Effective update from 27/09/2024

Alternative test: 10084 (G18020) - NEURO PGx GENE PANEL

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FG BASIC (CYP450), biological sample

Erased Test

Test code: 4316

Mnemonic code:  G1800

Effective update from 27/09/2024

Alternative test: 10042 (G18018) - GLOBAL PGx GENE PANEL

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FG Neuro Anxiety and Insomnia

Erased Test

Test code: 4898
Mnemonic code: G1809

 
Effective update from 27/09/2024

Alternative test: 10084 (G18020) - NEURO PGx GENE PANEL

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FG Neuro Depression

Erased Test 

Test code: 4822
Mnemonic code: G1810

Effective update from 27/09/2024

Alternative test: 10084 (G18020) -  NEURO PGx GENE PANEL

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ECHINOCOCCUS GRANULOSUS ANTIBODIES (HYDATIC CYST)

Reference values Modification

Test code: 183
Mnemonic code: Does not apply

Effective update from 30/09/2024

PREVIOUS

NEW

Negative : Titer Less than 1/160    Positive bordeline : Titer 1/160    Positive significant: Titer Greater than 1/320          *To confirm active infection, it is recommended    to do systematically two extractions within an    interval of 3-4 weeks. Increasing in the    titer of 2 or more times indicate recent    infection.    *To support the diagnosis, Specific Anti- IgE - Echinococcus granulosus can be useful.    *Source: PNT, Insert             Version of Test: 10

Negative : Titer Less than 1/160  Grey zone: Titer equal to1/160  Positive : Titer Greater than 1/160        *To confirm active infection, it is recommended to do systematically two extractions within an interval of 3-4 weeks. Increasing in the titer of 2 or more times indicate recent infection.  *To support the diagnosis, Specific Anti- IgE - Echinococcus granulosus can be useful.  *Source: PNT, Insert              Version of Test: 11

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