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

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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

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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

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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

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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

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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

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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: 
1078- Hereditary Deafness (GJB2, MT-RNR1) screening, whole blood
 
Alternative tests: 

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

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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

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USHER SYNDROME · PANEL · NGS

Genes Modification

Test code: 7349

Effective update from 31/07/2020

PREVIOUS	NEW
Genes: CDH23, CIB2, CLRN1, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A	Genes: ABHD12, ARSG, CDH23, CEP78, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN

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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

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