Friday, July 31, 2020

HEREDITARY CANCER · PANEL · NGS

Studied Genes Modification

Test code: 5050

Effective update from 31/07/2020




PREVIOUS

NEW
        
 ACD, AKT1, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CFTR, CHEK2, CTNNA1, CXCR4, DICER1, DIS3L2, EGLN1, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GPC3, GREM1, HNF1A, HNF1B, HOXB13, KIF1B, KIT, KLLN, KRAS, MAP3K6, MAX, MC1R, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NTHL1, PALB2, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RECQL, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SPINK1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XRCC2

      
      Version of Test: 15
     

        
ACD, AKT1, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CFTR, CHEK2, CTNNA1, CXCR4, DICER1, DIS3L2, EGLN1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GPC3, GREM1, HNF1A, HNF1B, HOXB13, KIF1B, KIT, KRAS, MAP3K6, MAX, MC1R, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NTHL1, PALB2, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RECQL, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SPINK1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XRCC2  
     
      Version of Test: 16
     

   Find the record of the test by clicking here

Thursday, July 30, 2020

ZONISAMIDE, SERUM

Method, Reference values and Delivery Time Modification

Test code: 1553

Effective update from 04/08/2020



PREVIOUS

NEW
     
      High Performance Liquid Chromatography
      

      Therapeutic level: 
      10 - 40 mg/L
     
     
      Delivery term: 7 days
     
     
      Version of Test: 6
     

        
     Liquid Chromatography/Tandem Mass 
     Spectrometry (LC-MS/MS)           
  
      Therapeutic level: 
      20 - 40 mg/L
     
     
      Delivery term: 4 days
     
     
      Version of Test: 7
   Find the record of the test by clicking here

PREGABALIN, SERUM

National conservation, Method, Reference values and Delivery Time Modification

Test code: 1154

Effective update from 04/08/2020


PREVIOUS

NEW

      National: Refrigerated serum
      

      High Performance Liquid Chromatography


      Therapeutic range:
      1 - 8 mg/L
     

      Delivery term: 11 days
     
     
      Version of Test: 5
     

        
     National: Frozen serum
     International: No changes
     
     Liquid Chromatography/Tandem Mass 
     Spectrometry(LC-MS/MS) 
    
     Therapeutic range:
           2 - 5 mg/L   
      LoQ:   0.5 mg/L
         
      Delivery term: 4 days
     
     
      Version of Test: 6
     

   Find the record of the test by clicking here

Lacosamide, serum

National conservation, Reference values and Delivery Time Modification

Test code: 5414

Effective update from 04/08/2020


PREVIOUS

NEW

      National: Refrigerated serum
      

      Therapeutic range:
      Dose 200 mg/day: 2.5-7.5 mg/L
      Dose 400 mg/day: 5.0-13.5 mg/L
      Dose 600 mg/day: 6.0-18.0 mg/L
     
      Delivery term: 11 days
     
     
      Version of Test: 8
     

        
     National: Frozen serum
     International: No changes
         
     Therapeutic range:
          1 - 10 mg/L   
      LoQ:   0.5 mg/L
         
     
      Delivery term: 4 days
     
     
      Version of Test: 9
     

   Find the record of the test by clicking here

Chronic Myeloproliferative Syndrome (CMS) (W515L, W515K - MPL) screening, total blood/bone marrow

Description, Method, Delivery time Modification

Test code: 4085

Effective update from 31/07/2020


PREVIOUS

NEW
        
Chronic Myeloproliferative Syndrome (CMS) (W515L, W515K - MPL) screening, total blood/bone marrow


Method: RT-PCR

Delivery time: 15 days   


CHRONIC
MIELOPROLIFERATIVE SYNDROME · MPL(W515L/K) · HOT SPOT                                      
Method: HOT SPOT

Delivery time: 12 days         



   Find the record of the test by clicking here

Wednesday, July 29, 2020

Hereditary Chronic Pancreatitis (R122H-PRSS1) screening, total blood/Hereditary Chronic Pancreatitis (PRSS1) screening, total blood

Erased tests

Effective update from 31/07/2020

Test code: 

3383- Hereditary Chronic Pancreatitis (R122H-PRSS1) screening, total blood

Alternative test: 

  • 8618- HEREDITARY PANCREATITIS · PRSS1 · SANGER
  • 8119- HEREDITARY PANCREATITIS · PRSS1 · MLPA


Test code: 



1384- Hereditary Chronic Pancreatitis (PRSS1) screening, total blood
 
Alternative test: 

  • 8618- HEREDITARY PANCREATITIS · PRSS1 · SANGER
  • 8119- HEREDITARY PANCREATITIS · PRSS1 · MLPA

   Find the record of the test by clicking here

Hereditary Deafness (GJB2, MT-NRN1, OTOF) screening, whole blood/Hereditary Deafness (GJB2, MT-RNR1) screening, whole blood

Erased tests

Test code: 1295

Effective update from 31/07/2020


Test code: 
1295- Hereditary Deafness (GJB2, MT-NRN1, OTOF) screening, whole blood

Alternative tests:
  • 4335- Hereditary Deafness, panel (GJB2, GJB6, OTOF) NGS, whole blood
  • 4843- Sensorineural hearing loss (GJB2) sequencing, whole blood
  • 7801- HEREDITARY DEAFNESS - OTOF - SEQUENCING
Test code: 
1078Hereditary Deafness (GJB2, MT-RNR1) screening, whole blood
 
Alternative tests: 


  • 4843- Sensorineural hearing loss (GJB2) sequencing, whole blood

   Find the record of the test by clicking here

STEROLS STUDY, SERUM

Sample Modification

Test code: 3539

Effective update from 31/07/2020



PREVIOUS

NEW
        
National: Refrigerated serum

International: Frozen serum

     

        
National: Frozen serum, protected from light

International: Frozen serum, protected from light
     

   Find the record of the test by clicking here

USHER SYNDROME · PANEL · NGS

Genes Modification

Test code: 7349

Effective update from 31/07/2020



PREVIOUS

NEW
        
Genes: CDH23, CIB2CLRN1, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A

     

        
Genes: ABHD12ARSG, CDH23, CEP78, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN       
     
  Find the record of the test by clicking here

Delivery time modification

Delivery time modification

Test code (see details bellow)

Effective update from 29/07/2020

TEST
MNEMONIC
DESCRIPTION
Previous
TAT
New 
TAT
3716
DHTR
DIHYDROTESTOSTERONE, SERUM
4
8
332
DHEA
DEHYDROEPIANDROSTENEDIONE (DHEA), SERUM
5
7
345
ET4
ESTRONE, SERUM
5
7
434
T3R
T3 REVERSE, SERUM
5
7
2013
CA50
CA 50 (TUMOR MARKER), SERUM
5
7
228
RENI
RENIN (ACTIVITY), PLASMA
3
5
5149
SERORI
Serotinin - RIA, serum
4
7
415
VASO
VASOPRESSIN - ANTIDIURETIC HORMONE (ADH), PLASMA
8
10

Monday, July 20, 2020

Method, Reference values Modification

Method, Reference values Modification

Test code: 

966 - CARDIOLIPIN IgM ANTIBODIES, SERUM
911 - CARDIOLIPIN IgG ANTIBODIES, SERUM    
3346 - CARDIOLIPIN IgA ANTIBODIES, SERUM
                              
3199 - ANTI - BETA-2 GLYCOPROTEIN-1 IgG ANTIBODIES, SERUM
3419 - ANTI - BETA-2 GLYCOPROTEIN-1 IgM ANTIBODIES, SERUM
3490 - ANTI - BETA-2 GLYCOPROTEIN-1 IgA ANTIBODIES, SERUM                               

Effective update from 27/07/2020


For all the tests indicated below, methodology is updated to: Fluorescence Immunoassay 


Test
Previous
New
966

Negative:   Less than 20 MPL-U/mL
Weak positive:   20 - 80 MPL-U/mL
Positive: Greater than 80 MPL-U/mL

Negative:        Less than 10 MPL-U/mL
Weak positive:        10 - 40 MPL-U/mL
Positive: Greather than 40 MPL-U/mL
911

Negative:   Less than 20 GPL-U/mL
Weak positive:   20 - 80 GPL-U/mL
Positive: Greater than 80 GPL-U/mL

Negative:       Less than 10 GPL-U/mL
Weak positive:         10-40
 GPL-U/mL
Positive:Greather than 40 GPL-U/mL
3346
Negative:   Less than 12 APL-U/mL
Weak positive:  12 - 20 APL-U/mL
Positive: Greater than 20 APL-U/mL

Negative:      Less than 14 APL-U/mL
Grey zone:              14 - 20 APL-U/mL
Positive:Greather than 20 APL-U/mL
3199

Negative:   Less than 20 U/mL

Negative:       Less than 7 U/mL
Grey zone:               7 - 10 U/mL
Positive: Greater than 10 U/mL
3419

Negative:  Less than 20 U/mL

Negative:          Less than 7 U/mL
Grey zone:                  7 - 10 U/mL
Positive:    Greater than 10 U/mL
3490

Negative:  Less than 20 U/mL

Negative:         Less than 7 U/mL
Grey zone:                 7 - 10 U/mL
Positive:   Greater than 10 U/mL