Legend

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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
• 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
• MLPA = Multiplex Ligation-dependent Probe Amplification
• SEQ-NG = Next-Generation Sequencing
• 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
• 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
• SEQ = SEQuencing
• 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:

• AbaCid
• Ambry Genetics
• Alexander Fleming
• Argenomics
• Baylor Genetics (deriv. Manlab)
• BIOMAKERS Molecular Pathology & Research
• Blueprint Genetics (deriv. Genda)
• CEDIE
• CEG
• CEMIC
• Centro de diagnóstico molecular
• CEPIMP Genomics
• CeNaGeM
• Centogene
• Centogene (deriv. Progenitest)
• Cibic
• Cibic-Hospital Italiano
• Ciscato&Sharovsky
• Clinica Universitaria Reina Fabiola
• Color
• Color (deriv. CEG)
• Color (deriv. Genda)
• Color (deriv. Genos)
• Color (deriv. Hospital Italiano)
• Color (deriv. Genesia)
• Domeq&Lafage
• Dr. Rapela
• Fares Taie
• Fundación para el Progreso de la Medicina
• Fundagen
• Gammalab
• Gammalab (deriv. Hospital Universitario Austral)
• Genda
• GeneDx
• Genia
• Genia (deriv. Hospital Italiano)
• Genos
• GIGA
• Health in code
• Héritas
• Hidalgo
• High Medic Group
• Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
• Hospital Italiano de Buenos Aires
• Hospital Privado Centro Médico de Córdoba
• Hospital Universitario Austral
• IACA
• IdenGene
• Invitae
• Imegen (deriv. Manlab)
• Invitae (deriv. Genda)
• Invitae (deriv. Genesia)
• Invitae (deriv. Genia)
• IHEM-CONICET CCT Mendoza
• Labgenetics (deriv. Pricai)
• Laboratorio Tucumán
• LACE
• Macrogen
• MANLAB
• MEDgenomica
• Myriad
• Reference Laboratory Genetics
• Sanatorio Allende
• Sistemas Genómicos
• Stamboulian
• STEM
• 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
• Germline variant found in somatic testing
• Ashkenazi panel
• Specific pathology
• Multigenetic panel
• Whole exome