sither
MLH1 (mutL homolog 1)
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Curator:
Instituto Nacional del Cancer
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Template
: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
SEQ-NG = Next-Generation Sequencing
SEQ = SEQuencing
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CNV
CSCE = Conformation Sensitive Capillary Electrophoresis
DECoN = Detection of Exon Copy Number variants
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
in-house algorithm for CNV
z-score-CNV = z-score based algorithm for CNV detection in targeted NGS
Lab
: Name of the Laboratory that performed the screening.
All options:
ARGENETICS
ARGENOMICS - Fundacion Investigar
Biocodices S.A.
Biogenotec
BIOMAKERS Molecular Pathology & Research
Bionet
Centro de Diagnostico Molecular (CDM)
Centro de Educación Médica e Investigaciones Clínicas (CEMIC)
Centro de Estudios Geneticos (CEG)
Centro de Investigaciones Endocrinologicas “Dr. Cesar Bergada” (CEDIE)
Centro Nacional de Genetica Medica "Dr. Eduardo E. Castilla" (CENAGEM)
Centro Privado Internacional de Medicina Personalizada - CEPIMP Genomics
CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
CITOGEN.LAB
Clínica Universitaria Reina Fabiola
Dasa Genómica - Genia
Diagnus Lab
Domeq&Lafage
Fundacion BIOGEN
Fundación para el Progreso de la Medicina
FUNDAGEN S.A.
Gammalab - Grupo Gamma S.A.
GENDA
Genesia - Progenitest
Genologica laboratorio de análisis genéticos
GENOS
Grupo de investigacion en Genetica Aplicada (GIGA)
Hospital Alemán
Hospital de Gastroenterología Dr. Carlos Bonorino Udaondo
Hospital Italiano de Buenos Aires
Hospital Privado Centro Médico de Córdoba
Hospital Universitario Austral
IACA Laboratorios
IBC Laboratorios
Instituto Alexander Fleming
Laboratorio Barros
Laboratorio de Biologia Celular y Molecular IHEM-CONICET CCT Mendoza
Laboratorio de Medicina Genomica - Facultad de Medicina - UNNE
Laboratorio Dr. Rapela
Laboratorio Dra. Marta Cortelezzi
Laboratorio Fares Taie
Laboratorio Flores
Laboratorio Hidalgo S.A.
Laboratorio High Medic Group S.A.
Laboratorio Integral SRL
Laboratorio Maipu
Laboratorio Motter
Laboratorio NANNI
Laboratorio PampaGEN
Laboratorio Tucumán
Laboratorios Turner
LACE Laboratorios
LEB (Laboratorio de Especialidades Bioquimicas)
MANLAB
MEDgenomica
PRICAI-Primer Centro Argentino de Inmunogenética-Fundación Favaloro
Sanatorio Allende
Stamboulian Laboratorio
STEM
VZ Laboratorios
Zoigen
AMBRY GENETICS
Baylor Genetics
Blueprint Genetics
CENTOGENE
COLOR
GENE ONE
Health in code
Iden Gene
IMEGEN
INVITAE
Laboratorio ATGen (E)
Laboratorio ATGen
MACROGEN
Myriad Genetics
SENTIS
Sistemas Genómicos
------
Color
Genda
Genda/Color
Genesia
Genesia/Invitae
Genia/Invitae
Genia/Color
Genia
Genos
Genos/Color
Hospital Privado Centro Médico de Córdoba
Hospital Privado Centro médico de Córdoba/IACA
Héritas
IACA
Invitae
AbaCid
Ambry Genetics
Alexander Fleming
Alexander Fleming/Baylor College
Alexander Fleming/Genesia-INVITAE
Argenomics
Baylor Genetics
BIOGEN
Biogenotec
BIOMAKERS Molecular Pathology & Research
BIONET
Blueprint Genetics
CEDIE
CEG
CEMIC
Centro de diagnóstico molecular
CEPIMP Genomics
CeNaGeM
Centogene
CIBIC
CIBIC/Héritas
Ciscato&Sharovsky
Clinica Universitaria Reina Fabiola
DIAGNUS LAB
Domeq&Lafage
Dr. Rapela
Fares Taie
FARESTAIE/Héritas
FAVALORO-PRICAI
Fundación para el Progreso de la Medicina
Fundación para el Progreso de la Medicina/CIBIC/Héritas
Fundagen
Gammalab
GeneDx
GIGA
Health in code
Hidalgo
High Medic Group
Hospital Alemán
Hospital de Gastroenterologia
Sanatorio Allende
MEDgenomica
LACE
HEMA
Centro médico de Córdoba
DASA-INVITAE
Bioscreen Rosario
x
Remarks
: Remarks
Date of test
: Date in which the results of the test were informed to the pacient
Type of test
: Type of test
All options:
Known familial mutation
Multigenetic panel
Specific pathology
Ashkenazi panel
Germline variant found in somatic testing
Whole exome
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Date
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all entries matching the year 2020
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Date
2020-03|2020-04
all entries matching March or April, 2020
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Date
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Date
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all entries before the year 2020
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Date
<=2020-06
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Date
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all entries after June, 2020
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Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
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Numeric
23|24
all entries exactly matching 23 or 24
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Numeric
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Numeric
<23
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Numeric
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Numeric
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Numeric
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combination
Numeric
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'South Asian', but not containing 'South East Asian'
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143 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Lab
Remarks
Date of test
Type of test
Variants found
Owner
0000000058
00000054
DNA
SEQ-NG
Alexander Fleming
-
9-feb-2017
-
11
Luisina Bruno-Instituto Fleming
0000000144
00000133
DNA
SEQ-NG
CEMIC
-
16-may-2017
-
24
Alejandra Mampel-Hospital Universitario de Mendoza
0000000165
00000149
DNA
SEQ-NG
CEMIC
-
18-nov-2015
-
23
Pablo Kalfayan-Hospital Italiano
0000000166
00000149
DNA
MLPA
CEMIC
-
18-may-2016
-
-
Pablo Kalfayan-Hospital Italiano
0000000178
00000158
DNA
SEQ-NG
Genia
-
27-mar-2017
-
31
Maria Laura Gonzalez-Hospital Italiano
0000000181
00000159
DNA
SEQ-NG
CEMIC
-
20-feb-2017
-
30
Maria Laura Gonzalez-Hospital Italiano
0000000249
00000153
DNA
SEQ-NG
Genia
-
30-jun-2017
-
37
Maria Laura Gonzalez-Hospital Italiano
0000000251
00000219
DNA
SEQ-NG
CEMIC
-
4-jul-2017
-
21
Carlos Vaccaro-Hospital Italiano
0000000258
00000224
DNA
SEQ-NG
CEMIC
-
14-jun-2017
-
23
Carlos Vaccaro-Hospital Italiano
0000000334
00000285
DNA
SEQ-NG
Domeq&Lafage
-
30-aug-2017
-
26
Carlos Vaccaro-Hospital Italiano
0000000344
00000295
DNA
SEQ-NG
CEMIC
-
11-jul-2017
-
24
Pablo Kalfayan-Hospital Italiano
0000000346
00000297
DNA
MLPA
CEMIC
-
4-oct-2017
-
-
Carlos Vaccaro-Hospital Italiano
0000000356
00000297
DNA
SEQ-NG
CEMIC
-
11-dic-2015
-
21
Carlos Vaccaro-Hospital Italiano
0000000363
00000312
DNA
SEQ-NG
CEMIC
-
11-nov-2016
-
39
Lina Nuñez-Private Practice
0000000365
00000313
DNA
SEQ-NG
CEMIC
-
24-feb-2017
-
19
Pablo Kalfayan-Hospital Italiano
0000000366
00000313
DNA
MLPA
CEMIC
-
15-may-2017
-
-
Pablo Kalfayan-Hospital Italiano
0000000372
00000295
DNA
MLPA
CEMIC
-
28-sep-2017
-
-
Pablo Kalfayan-Hospital Italiano
0000000373
00000325
DNA
SEQ-NG
Genia
-
27-nov-2017
-
21
Pablo Kalfayan-Hospital Italiano
0000000482
00000428
DNA
SEQ
Cibic
Known familial mutation
20-dic-2017
-
1
Jesica Ramirez-Hospital Central de Mendoza
0000000525
00000467
DNA
SEQ-NG
CEMIC
-
14-aug-2017
-
30
Florencia Petracchi-CEMIC
0000000562
00000498
DNA
SEQ-NG
Clinica Universitaria Reina Fabiola
-
5-mar-2018
-
37
Jose Llugdar-Instituto Oulton
0000000577
00000510
DNA
SEQ-NG
CEMIC
-
24-nov-2015
-
22
Carlos Vaccaro-Hospital Italiano
0000000578
00000510
DNA
MLPA
Genia
-
19-dec-2017
-
-
Carlos Vaccaro-Hospital Italiano
0000000602
00000534
DNA
SEQ-NG
CEMIC
-
19-feb-2018
Specific pathology panel
30
Pablo Kalfayan-Hospital Italiano
0000000608
00000540
DNA
SEQ
Domeq&Lafage
-
16-apr-2018
Specific pathology
1
Rita Valdez-Hospital Alemán
0000000626
00000557
DNA
SEQ-NG
Domeq&Lafage
Lynch Panel
2-may-2018
-
31
Lina Nuñez-Hospital Alemán
0000000675
00000591
DNA
SEQ-NG
CEMIC
-
31-oct-2017
Multigenetic panel
8
Florencia Petracchi-CEMIC
0000000696
00000606
DNA
SEQ-NG
CEMIC
-
1-feb-2018
Specific pathology panel
21
Florencia Petracchi-CEMIC
0000000716
00000619
DNA
MLPA
CEMIC
3'UTR region of EPCAM also evaluated
1-feb-2018
Known familial mutation
1
Pablo Kalfayan-CEMIC
0000000718
00000621
DNA
SEQ
High Medic Group
-
13-sep-2017
Known familial mutation
1
Pablo Kalfayan-CEMIC
0000000808
00000534
DNA
MLPA
CEMIC
-
19-feb-2018
Specific pathology panel
-
Pablo Kalfayan-Hospital Italiano
0000000814
00000696
DNA
SEQ-NG
CEMIC
-
26-apr-2018
Specific pathology panel
31
Carlos Vaccaro-Hospital Italiano
0000000854
00000733
DNA
SEQ-NG
Dasa Genómica - Genia;INVITAE
Invitae Lynch Syndrome Panel
15-oct-2018
Specific pathology
1
Lina Nuñez-Private Practice
0000000855
00000734
DNA
SEQ
Domeq&Lafage
-
23-jan-2019
Known familial mutation
-
Lina Nuñez-Hospital Alemán
0000000912
00000784
DNA
SEQ-NG
CEMIC
-
26-jul-2018
Specific pathology panel
30
Florencia Petracchi-CEMIC
0000000913
00000785
DNA
SEQ-NG
CEMIC
-
2-aug-2018
Specific pathology panel
17
Florencia Petracchi-CEMIC
0000000915
00000787
DNA
SEQ-NG
Domeq&Lafage
-
13-dec-2018
Specific pathology panel
13
Lina Nuñez-Hospital Alemán
0000000989
00000836
DNA
SEQ-NG
BIOMAKERS Molecular Pathology & Research
-
28-mar-2018
Specific pathology
-
Lucas Sanchez-Consultorio AGO-BIOMAKERS
0000000996
00000836
DNA
arrayCGH
BIOMAKERS Molecular Pathology & Research
-
28-mar-2018
Specific pathology
-
Lucas Sanchez-Consultorio AGO-BIOMAKERS
0000001028
00000868
DNA
SEQ-NG
Genia
-
16-aug-2018
Specific pathology
24
Pablo Kalfayan-Hospital Italiano
0000001048
00000883
DNA
SEQ
Hospital Privado Centro Médico de Córdoba
-
21-nov-2018
Known familial mutation
2
Cecilia Montes-IMGO
0000001049
00000884
DNA
SEQ-NG
CEMIC
-
25-oct-2018
Specific pathology
11
Pablo Kalfayan-CEMIC
0000001068
00000897
DNA
z-score-CNV
Héritas
-
3-mar-2018
Multigenetic panel
-
Laura Vargas Roig-IMBECU
0000001079
00000901
DNA
z-score-CNV
Héritas
-
16-may-2018
Multigenetic panel
-
Laura Vargas Roig-IMBECU
0000001113
00000924
DNA
SEQ-NG
Dasa Genómica - Genia;Hospital Italiano de Buenos Aires
-
28-feb-2019
Specific pathology
5
Pablo Kalfayan-Hospital Italiano
0000001172
00000975
DNA
MLPA
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
10-may-2018
Specific pathology
1
Marina Antelo-Hospital Udaondo
0000001195
00000993
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
8-sep-2017
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001196
00000994
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
8-sep-2019
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001197
00000995
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
8-sep-2019
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001198
00000996
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
8-sep-2017
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001199
00000997
DNA
SEQ-NG;CNV
Genesia - Progenitest;COLOR
-
9-feb-2017
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001200
00000998
DNA
SEQ-NG
Cibic
-
24-apr-2017
Specific pathology
3
Marina Antelo-Hospital Udaondo
0000001203
00001001
DNA
SEQ-NG
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
10-may-2018
Specific pathology
1
Marina Antelo-Hospital Udaondo
0000001204
00001002
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
2-oct-2018
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001205
00001003
DNA
SEQ-NG
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
10-may-2018
Specific pathology
1
Marina Antelo-Hospital Udaondo
0000001206
00001004
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
17-may-2018
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001207
00001005
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
10-aug-2018
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001222
00001019
DNA
SEQ-NG
Dasa Genómica - Genia;Hospital Italiano de Buenos Aires
-
16-apr-2019
Specific pathology
9
Maria Laura Gonzalez-Hospital Italiano
0000001226
00001021
DNA
SEQ-NG
Dasa Genómica - Genia;Hospital Italiano de Buenos Aires
-
30-apr-2019
Specific pathology
15
Carlos Vaccaro-Hospital Italiano
0000001235
00001031
DNA
SEQ-NG
Myriad
COLARIS®
1-jun-2018
Specific pathology
1
Marina Antelo-Hospital Udaondo
0000001236
00001031
DNA
arrayCGH
Myriad
COLARIS®
1-jun-2018
Specific pathology
-
Marina Antelo-Hospital Udaondo
0000001237
00001032
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
12-apr-2018
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001238
00001033
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
24-jun-2019
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001240
00001035
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
9-jun-2017
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001244
00001039
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
10-aug-2018
Known familial mutation
1
Marina Antelo-Hospital Udaondo
0000001246
00001041
DNA
SEQ-NG
Genia
-
15-jan-2020
Specific pathology
8
Maria Laura Gonzalez-Hospital Italiano
0000001249
00001044
DNA
SEQ-NG
Dasa Genómica - Genia;Hospital Italiano de Buenos Aires
-
6-jun-2019
Specific pathology
12
Carlos Vaccaro-Hospital Italiano
0000001250
00001045
DNA
SEQ
CEMIC
-
25-nov-2019
Known familial mutation
1
Carlos Vaccaro-Hospital Italiano
0000001261
00001055
DNA
CNV;SEQ-NG
Héritas
-
31-may-2018
Specific pathology
1
Erika Stegmayer-Hospital Zenon Santillan
0000001262
00001056
DNA
CNV;SEQ-NG
Laboratorio Tucumán
-
12-jul-2019
Specific pathology
1
Erika Stegmayer-Hospital Zenon Santillan
0000001267
00000903
DNA
MLPA
CEMIC
-
8-oct-2019
Specific pathology
-
Lina Nuñez-Private Practice
0000001272
00000508
DNA
MLPA
IHEM-CONICET CCT Mendoza
-
17-oct-2019
Known familial mutation
1
Lina Nuñez-Private Practice
0000001290
00001079
DNA
SEQ-NG
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
21-aug-2018
Specific pathology
1
Marina Antelo-Hospital Udaondo
0000001292
00001081
DNA
MLPA
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
17-may-2018
Specific pathology
2
Marina Antelo-Hospital Udaondo
0000001295
00001084
DNA
SEQ-NG
High Medic Group
-
11-jan-2017
Specific pathology
4
Marina Antelo-Hospital Udaondo
0000001296
00001085
DNA
SEQ-NG
Cibic
-
6-feb-2017
Specific pathology
1
Marina Antelo-Hospital Udaondo
0000001297
00001086
DNA
MLPA
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
14-jul-2017
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001304
00001091
DNA
SEQ-NG
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
21-aug-2018
Specific pathology
1
Marina Antelo-Hospital Udaondo
0000001330
00001115
DNA
SEQ-NG
Dasa Genómica - Genia;Hospital Italiano de Buenos Aires
-
22-mar-2019
Specific pathology
6
Maria Laura Gonzalez-Hospital Italiano
0000001333
00001116
DNA
SEQ-NG
Genia
-
1-jul-2019
Specific pathology
11
Maria Laura Gonzalez-Hospital Italiano
0000001334
00001117
DNA
SEQ-NG
Dasa Genómica - Genia;Hospital Italiano de Buenos Aires
-
3-abr-2019
Specific pathology
11
Maria Laura Gonzalez-Hospital Italiano
0000001337
00001118
DNA
MLPA
Genia
only 3' region of EPCAM was tested
16-aug-2019
Specific pathology
-
Carlos Vaccaro-Hospital Italiano
0000001338
00001118
DNA
SEQ-NG
Dasa Genómica - Genia;Hospital Italiano de Buenos Aires
-
13-may-2019
Specific pathology
9
Carlos Vaccaro-Hospital Italiano
0000001339
00001119
DNA
SEQ-NG
CEMIC
-
13-aug-2019
Specific pathology
13
Carlos Vaccaro-Hospital Italiano
0000001392
00000884
DNA
MLPA
Genia (deriv. Hospital Italiano)
-
27-may-2019
Specific pathology
-
Pablo Kalfayan-Hospital Italiano
0000001399
00001172
DNA
SEQ-NG
CEMIC
-
25-nov-2019
Multigenetic panel
21
Pablo Kalfayan-Hospital Italiano
0000001408
00001178
DNA
SEQ-NG
CEMIC
-
31-oct-2019
Specific pathology
18
Pablo Kalfayan-Hospital Italiano
0000001428
00001195
DNA
SEQ
CEMIC
-
23-sep-2019
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001429
00001196
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
1-aug-2019
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001432
00001199
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
13-mar-2019
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001434
00001201
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
12-apr-2018
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001435
00001202
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
8sep-2017
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001436
00001203
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
8-sep-2017
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001437
00001204
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
14-jul-2017
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001438
00001205
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
24-jun-2019
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001439
00001206
DNA
SEQ
Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
-
27-mar-2019
Known familial mutation
-
Marina Antelo-Hospital Udaondo
0000001443
00001116
DNA
MLPA
Genia
-
31-dec-2019
Specific pathology
-
Maria Laura Gonzalez-Hospital Italiano
0000001444
00001096
DNA
MLPA
Genia
-
6-dec-2019
Specific pathology
-
Maria Laura Gonzalez-Hospital Italiano
0000001445
00001210
DNA
MLPA
Genia
-
21-jan-2020
Known familial mutation
-
Maria Laura Gonzalez-Hospital Italiano
0000001449
00001214
DNA
CNV;SEQ-NG
Ambry Genetics
-
13-sep-2019
Specific pathology
1
Maria Laura Gonzalez-Hospital Italiano
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