SYNLAB En: May 2018

Wednesday, May 30, 2018

Familial Idiopathic Dystonia /Progressive Torsion, DYT1 (TOR1A c.907_909delGAG) screening, total blood

Description Modification

Test code: 7087

Effective update from 31/05/2018

PREVIOUS	NEW
Familial Idiopathic Dystonia /Progressive Torsion, DYT1 (deletion-TOR1A) screening, total blood	Familial Idiopathic Dystonia /Progressive Torsion, DYT1 (TOR1A c.907_909delGAG) screening, total blood

Huntington Disease (IT15) screening, total blood

Delivery Time Modification

Test code: 2906

Effective update from 04/06/2018

PREVIOUS	NEW
Delivery term: 30 days	Delivery term: 22 days

Gorlin Syndrome (PTCH1) sequencing, total blood

Delivery Time Modification

Test code: 1336

Effective update from 04/06/2018

PREVIOUS	NEW
Delivery term: 22 days	Delivery term: 32 days

Polyposis Colon Cancer (MUTYH) sequencing, total blood

Delivery Time Modification

Test code: 1087

Effective update from 04/06/2018

PREVIOUS	NEW
Delivery term: 60 days	Delivery term: 32 days

Hepatitis E virus (HEV) RNA, plasma

Delivery Time and Reference Values Modification

Test code: 3652

Effective update from 04/06/2018

PREVIOUS

NEW

NEGATIVE

Methodology:

RNA was extracted from received sample, by automatic system MagNA Pure (Roche Diagnostics). Reverse transcription and double nested amplification (nested-PCR) of the putative capsid gene of HEV was performed with specific primers, by Hsieh et al, Journal of Clinical Microbiology (1999). The amplified fragment (230 bp) was checked on agarose gel and ethidium bromide staining.

Amplification of the Factor V gene has been carried out as an extraction and amplification control.

The results of this test are only for the tested sample.

Delivery term: 7 days

NEGATIVE



Delivery term: 4 days

MISTAKE: MOLECULAR STUDY GENOTYPE MHC-C (LOW RESOLUTION), WHOLE BLOOD

MISTAKE: Sample Modification

The 29th of May it was communicated by mistake that the sample for the determination of MOLECULAR STUDY GENOTYPE HLA-C (LOW RESOLUTION) was Refrigerated Serum. The correct sample is: WHOLE EDTA BLOOD refrigerated.

Test code: 4475

Effective update from 31/05/2018

PREVIOWS	NEW
National Transport: Sample: Whole EDTA Blood at Room Temperature Transoceanic Transport: Sample: Whole EDTA Blood at Room Temperature	National Transport: Sample: Whole EDTA Blood Refrigerated Transoceanic Transport: Sample: Whole EDTA Blood Refrigerated

Tuesday, May 29, 2018

CHARGE Syndrome (CHD7) sequencing, total blood

Delivery time Modification

Test code: 1147

Effective update from 01/06/2018

PREVIOUS	NEW
Delivery time: 40 days	Delivery time: 32 days

ANTI - INSULIN ANTIBODIES, SERUM

Units and Reference values Modification

Test code: 291

Effective update from 05/06/2018

PREVIOUS	NEW
Negative: Less than 8.2 %	Negative: Less than 0.4 U/mL Positive: Greater than or equal to 0.4 U/mL

MOLECULAR STUDY GENOTYPE MHC-C (LOW RESOLUTION), WHOLE BLOOD

Sample Modification

Test code: 4475

Effective update from 31/05/2018

PREVIOWS	NEW
National Transport: Sample: Whole EDTA Blood at Room Temperature Transoceanic Transport: Sample: Whole EDTA Blood at Room Temperature	National Transport: Sample: Whole EDTA Blood Refrigerated Transoceanic Transport: Sample: Whole EDTA Blood Refrigerated

MOG ( Myelin Oligodendrocyte Glycoproteine ) Antibodies, Serum

Results and Method Modification

Test code: 5566

Effective update from 29/05/2018

PREVIOWS	NEW
Results: 1- Interpretation 2- Titer Method: Immunohistochemistry	Results: 1- Interpretation* Method: Immunofluorescence on transfected HEK cells * Titer not reported

Epidermolysis Bullosa Simplex (exons 1, 5, 7-KRT5, exons 1, '-7-KRT1') screening, total blood

Erased test

Test code: 4096

Effective update from 29/05/2018

Alternative test:

7867- EPIDERMOLYSIS BULLOSA SIMPLEX - KRT5 - SEQUENCING
7868-EPIDERMOLYSIS BULLOSA SIMPLEX - KRT14 - SEQUENCING

Epidermolysis Bullosa (COL7A1) NGS, total blood

Delivery Time Modification

Test code: 1122

Effective update from 29/05/2018

PREVIOUS	NEW
Delivery term: 45 days	Delivery term: 32 days

Ichthyosis Bullosa of Siemens (KRT2) sequencing, total blood

Delivery Time Modification

Test code: 1720

Effective update from 29/05/2018

PREVIOUS	NEW
Delivery term: 65 days	Delivery term: 32 days

EPIDERMOLYSIS BULLOSA SIMPLEX - KRT5 - SEQUENCING

New Test in NOÛS Catalog

EPIDERMOLYSIS BULLOSA SIMPLEX - KRT14 - SEQUENCING

New Test in NOÛS Catalog

Monday, May 28, 2018

Epidermolysis bullosa, panel (20 genes) NGS, whole blood

Description and Studied Genes Modification

Test code: 5477

Effective update from 28/05/2018

PREVIOUS	NEW
Epidermolysis bullosa, panel (20 genes) NGS, whole blood COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3,LAMB3, LAMC2, MMP1, PKP1, PLEC, TGM5	EPIDERMOLYSIS BULLOSA - PANEL - NGS COL17A1, COL7A1, DSP, DST, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT1, KRT10, KRT5, KRT14, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, TGM5

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	32 days
Information:
More than 100 mutations in the KRT5 gene have been identified in persons with Epidermolysis Bullosa Simplex, a condition that causes the skin to be very fragile. The most severe form of epidermolysis bullosa simplex, the Dowling-Meara type, is usually a result of changes in the regions of the keratin 5 which is essential for the normal assembly of the intermediate filaments of keratin. The mildest forms of the disease, including the localised type (formerly called the Weber-Cockayne type) and a form known as the other generalised type (formerly called the Koebner type), are often caused by the changes that affect the least critical regions of the protein. Another form of the disease called epidermolysis bullosa simplex with mottled pigmentation typically results from a particular KRT5 mutation. This mutation replaces the amino acid proline with the amino acid leucine in the protein position 25 (written as Pro25Leu or P25L).