Obesity due to leptin receptor deficiency (LEPR), sequencing, biological sample

New Test in NOÛS Catalog

Test Code: 7439

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	37 days

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Spinocerebellar Ataxia, type 5, (SPTBN2) DELETIONS/DUPLICATIONS, biological sample

New Test in NOÛS Catalog

Test Code: 7438

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	32 days

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Incontinentia pigmenti (IKBKG), Frequent DEL/INS, biological sample

New Test in NOÛS Catalog

Test Code: 7440

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	22 days
Information:
Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes and the central nervous system. Characteristic skin lesions evolve through four stages: 1) blisters (from birth to the age of around four months); 2) an eruption similar to warts (during several months); 3) swirling macular hyperpigmentation (age around six months to adulthood), and ') linear hypopigmentation. The diagnosis of IP is based on clinical findings and molecular genetic tests of IKBKG (formerly NEMO), the only gene known to be associated with IP. A deletion that eliminates the exons ' through 10 of IKBKG is present in approximately 80% of the affected individuals. IP is inherited in X-linked form. IP is a lethal embryonic disease that affects many gestations in which the foetal sex is masculine. Affected males that survive can have karyotype '7, XXY or somatic mosaicism due to the common IKBKG deletion. A female with IP may have inherited the IKBKG mutation from the mother or have a de novo mutation. The parents can be clinically affected or be unaffected, but have germline mosaicism. Affected women have a 50% chance of transmitting the mutant IKBKG allele at conception; however, male conceptuses with a loss-of-function mutation of IKBKG miscarry. Thus, the expected ratio among children born live is approximately 33% unaffected females, 33% affected females, and 33% unaffected males. Prenatal testing for high-risk pregnancies is possible if the disease-causing mutation in the family has been identified.

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Usher Syndrome type 2A (USH2A) MLPA, biological sample

New Test in NOÛS Catalog

Test Code: 7437

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

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MET (Splicing 7/8, 14) Diagnosis, ONCOinBLOOD (Cell-free DNA detection), serum and plasma

Description Modification

Test code: 7365

Effective update from 01/09/2017

PREVIOUS	NEW
MET (Splicing 7/8, 14) Diagnosis,  ONCOinBLOOD (Cell-free DNA detection), serum and plasma	MET (Splicing 7/8, 14) Monitoring,  ONCOinBLOOD (Cell-free DNA detection), serum and plasma

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Hereditary Haemorrhagic Telangiectasia, panel (ACVRL1, ENG, SMAD4) NGS, total blood

New Test in NOÛS Catalog

Test Code: 7433

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
Delivery term:	57 days
Information:
Hereditary Haemorrhagic Telangiectasia is characterised by the presence of multiple arteriovenous malformations that result from the connection of veins and arteries. In some cases these arteriovenous malformations appear on the skin and the mucous membrane producing traumas and bleeding. The age of onset is situated at 12 years of age.

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GAMMA AMINOBUTYRIC ACID (GABA), ORINA

Reference values and Delivery Time Modification

Test code: 3584

Effective update from 01/09/2017

PREVIOUS	NEW
Units: µmol/mmol creatinine    Referene values: <10 µmol/mmol creatinina Delivery term: 20 days	Units: mg/L      Referene values: <1.0 mg/L Delivery term: 14 days

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Glycine Encephalopathy (Non-ketotic hyperglycinemia), (GLDC, AMT, GCSH) sequencing, biological sample

New Test in NOÛS Catalog

Test Code: 7431

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	57 days

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Wolfram Syndrome (WFS1, CISD2) sequencing, biological sample

New Test in NOÛS Catalog

Test Code: 7430

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	37 days
Information:
The Wolfram Syndrome (WS) is a rare neurodegenerative disease characterised by: type 1 mellitus diabetes, diabetes insipidus, optical atrophy, and neurological signs. The minimum criteria necessary for the determination of WS is the association of type 1 diabetes mellitus of juvenile onset, without antibodies, and that appears normally during the first decade of life, with the onset of bilateral optical atrophy, that appears after the second decade. The optical atrophy only affects the peripheral vision. Around 70-75% of the patients also develop diabetes insipidus and two-thirds of the affected individuals present sensorineural hearing loss of variable degree that affects the high frequencies. It is transmitted in an autosomal recessive manner. Two responsible genes have been identified: WFS1 gene ('p16.1) and the CISD2 gene. The mutations of CISD2 have only been identified in three consanguineous families of Jordanian origin. The mutations of WFS1 are responsible for most cases of WS (the majority of the mutations are localised in exon 8).

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CADASIL - Cerebral Arteriopathy (exons 2-24 - NOTCH3) screening, biological sample

New Test in NOÛS Catalog

Test Code: 7416

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	32 days
Information:
CADASIL is the acronym of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. CADASIL is a genetically transmitted disease with a dominant autosomal pattern. The prevalence has not yet been established, but the disorder is probably under-diagnosed. It is associated with cerebral-vascular accidents, especially the ischemic stroke and migraines with or without aura. The onset of the symptoms is produced at around '0 years of age. The involved gene NOTCH3 is located in the chromosome 1p. This gene consists of 33 exons. The clinical diagnosis is confirmed by the identification of mutations in NOTCH 3. At present, the mutation analysis in 12 exons allows establishing the diagnosis in 0% of the cases. In absence of mutations in these exons, any gene can be sequenced. Our laboratory offers DNA sequencing with a diagnostic algorithm for the identification of frequent mutations. Code 383 consists of the sequencing of the third and fourth exon of the NOTCH3 with a detection index of approximately 75%. In the negative tests, the analysis is continued with the sequencing of the exons 2, 5 and 11 (CODE 1280), and finally it is possible to analyse the remaining exons in the code 1281.

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FRUCTOSE, SEMINAL FLUID

Sample Modification

Test code: 352

Effective update from 25/08/2017

PREVIOUS	NEW
Sample: Seminal Fluid	Sample: Frozen Seminal Fluid

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LOW DENSITY LIPOPROTEIN (LDL OXIDATION ) ANTIBODIES, SERUM

Delivery Time Modification

Test code: 1168

Effective update from 25/08/2017

PREVIOUS	NEW
Delivery term: 25 days	Delivery term: 14 days

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HLA-DQ2 (DQA1*0501/DQB1*0201)/HLA-DQ8 (DQA1*0301/DQB1*0302)- Celiac susceptibility, genotype, whole blood

Delivery Time Modification

Test code: 2958

Effective update from 25/08/2017

PREVIOUS	NEW
Delivery term: 10 days	Delivery term: 5 days

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Wolfram Syndrome (WFS1, CISD2) sequencing, biological sample

New Test in NOÛS Catalog

Test Code: 7430

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	37 days
Information:
The Wolfram Syndrome (WS) is a rare neurodegenerative disease characterised by: type 1 mellitus diabetes, diabetes insipidus, optical atrophy, and neurological signs. The minimum criteria necessary for the determination of WS is the association of type 1 diabetes mellitus of juvenile onset, without antibodies, and that appears normally during the first decade of life, with the onset of bilateral optical atrophy, that appears after the second decade. The optical atrophy only affects the peripheral vision. Around 70-75% of the patients also develop diabetes insipidus and two-thirds of the affected individuals present sensorineural hearing loss of variable degree that affects the high frequencies. It is transmitted in an autosomal recessive manner. Two responsible genes have been identified: WFS1 gene ('p16.1) and the CISD2 gene. The mutations of CISD2 have only been identified in three consanguineous families of Jordanian origin. The mutations of WFS1 are responsible for most cases of WS (the majority of the mutations are localised in exon 8).

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Hypohidrotic Ectodermal Dysplasia with immunodeficiency (IKBKG) sequencing, total blood

Delivery Time Modification

Test code: 3960

Effective update from 25/08/2017

PREVIOUS	NEW
Delivery term: 40 days	Delivery term: 37 days

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Calreticulin (ex.9 - CALR) screening, whole blood

Method Modification

Test code: 4854

Effective update from 25/08/2017

PREVIOUS	NEW
Method: Real Time - PCR	Method: PCR/Capillary Electrophoresis

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Congenital Ichthyosis (PNPLA1) sequencing, total blood

New Test in NOÛS Catalog

Test Code: 7429

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	37 days
Information:
Autosomal recessive congenital ichthyosis (ARCI) is a disorder of the keratinisation of the clinically heterogeneous skin. Although the majority of the neonates with ARCI are collodion babies, the clinical manifestation and the severity of the disease can vary significantly, from harlequin-type ichthyosis, the most common and often severe form of ARCI, to lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). The diagnosis of autosomal recessive congenital ichthyosis is established by the findings of the skin at birth and in infancy. A skin biopsy is not necessary to establish the ARCI diagnosis. The seven genes that are known to be associated with ARCI are: TGM1, ALOXE3, ALOX12B, NIPAL' (formerly known as ICHTHYIN), ABCA12, CYP'F22 and PNPLA1; at least one gene continues being unknown.

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Polycystic Kidney Disease (PKD1) sequencing, total blood

Delivery Time Modification

Test code: 1715

Effective update from 25/08/2017

PREVIOUS	NEW
Delivery term: 45 days	Delivery term: 37 days

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NEUTROPHIL GELATINASE ASSOCIATED LIPOCALIN, URINE

Delivery Time Modification

Test code: 1954

Effective update from 25/08/2017

PREVIOUS	NEW
Delivery term: 6 days	Delivery term: 30 days

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proPSA - phi (PROSTATE HEALTH INDEX), SERUM

Method Modification

Test code: 4369

Effective update from 25/08/2017

PREVIOUS	NEW
Method: HYBRITECH Beckman Coulter	Method: Chemiluminescence

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SALMONELLA PARATYPHI ANTIBODIES

Reference values Modification

Test code: 708

Effective update from 18/08/2017

PREVIOUS	NEW
NEGATIVE Less than 1/20	S.paratyphi A AgH: NEGATIVE Less than 1/160    S.paratyphi A AgO: NEGATIVE Less than 1/80    S.paratyphi B AgH: NEGATIVE Less than 1/160    S.paratyphi B AgO: NEGATIVE Less than 1/80    S.paratyphi C AgH: NEGATIVE Less than 1/160    S.paratyphi C AgO: NEGATIVE Less than 1/80

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SALMONELLA PARATYPHI B (H) ANTIBODIES

Reference values Modification

Test code: 2401

Effective update from 18/08/2017

PREVIOUS	NEW
NEGATIVE Less than 1/20	NEGATIVE Less than 1/160

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