MET (MET proto-oncogene, receptor tyrosine kinase)
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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:
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
Austral
Baylor Genetics
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
Domeq&Lafage
Dr. Rapela
Fares Taie
FARESTAIE/Héritas
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 de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
Hospital Italiano de Buenos Aires
Hospital Universitario Austral
IdenGene
Imegen
IHEM-CONICET CCT Mendoza
Labgenetics
Laboratorio Integral S.R.L.
Laboratorio Tucumán
LACE
Macrogen
MANLAB
MANLAB/Sistemas genómicos
MEDgenomica
Myriad
Reference Laboratory Genetics
Sanatorio Allende
Sistemas Genómicos
Stamboulian
STEM
Trinidad Medical Center
Turner
VZ Laboratorios
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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Screening ID
Individual ID
Template
Technique
Lab
Remarks
Date of test
Type of test
Variants found
Owner
Date created
0000001301
00001089
DNA
SEQ-NG
CEMIC
-
25-mar-2019
Multigenetic panel
10
Pablo Kalfayan-Hospital Italiano
2020-03-27 17:21:17
0000001387
00001161
DNA
SEQ-NG
CEMIC
-
4-jun-2019
Multigenetic panel
5
Lina Nuñez-Private Practice
2020-05-18 15:34:53
0000001397
00001170
DNA
SEQ-NG
Centogene (deriv. Progenitest)
CICER, PHOXB, NBPF23 also tested
11-oct-2019
Multigenetic panel
0
Pablo Kalfayan-Hospital Italiano
2020-06-01 16:26:28
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Instituto Nacional del Cáncer
Programa Nacional de Tumores Familiares y Hereditarios.
procafa@inc.gob.ar
Argentina