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Internal order switcher Staff member Bassi Breda Klobus Cremaschi Cristofoli Valbonesi Staff member email Sender's details Title * Dr Prof Mr Mrs Name * Surname * Email address * Company / Institution * Department [optional] Street * Number * City * Postal code * Country * Afghanistan Albania Algeria Andorra Angola Antigua & Deps Argentina Armenia Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bhutan Bolivia Bosnia Herzegovina Botswana Brazil Brunei Bulgaria Burkina Burundi Cambodia Cameroon Canada Cape Verde Central African Rep Chad Chile China Colombia Comoros Congo Congo {Democratic Rep} Costa Rica Croatia Cuba Cyprus Czech Republic Denmark Djibouti Dominica Dominican Republic East Timor Ecuador Egypt El Salvador Equatorial Guinea Eritrea Estonia Ethiopia Fiji Finland France Gabon Gambia Georgia Germany Ghana Greece Grenada Guatemala Guinea Guinea-Bissau Guyana Haiti Honduras Hungary Iceland India Indonesia Iran Iraq Ireland {Republic} Israel Italy Ivory Coast Jamaica Japan Jordan Kazakhstan Kenya Kiribati Korea North Korea South Kosovo Kuwait Kyrgyzstan Laos Latvia Lebanon Lesotho Liberia Libya Liechtenstein Lithuania Luxembourg Macedonia Madagascar Malawi Malaysia Maldives Mali Malta Marshall Islands Mauritania Mauritius Mexico Micronesia Moldova Monaco Mongolia Montenegro Morocco Mozambique Myanmar, {Burma} Namibia Nauru Nepal Netherlands New Zealand Nicaragua Niger Nigeria Norway Oman Pakistan Palau Panama Papua New Guinea Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Rwanda St Kitts & Nevis St Lucia Saint Vincent & the Grenadines Samoa San Marino Sao Tome & Principe Saudi Arabia Senegal Serbia Seychelles Sierra Leone Singapore Slovakia Slovenia Solomon Islands Somalia South Africa South Sudan Spain Sri Lanka Sudan Suriname Swaziland Sweden Switzerland Syria Taiwan Tajikistan Tanzania Thailand Togo Tonga Trinidad & Tobago Tunisia Turkey Turkmenistan Tuvalu Uganda Ukraine United Arab Emirates United Kingdom United States Uruguay Uzbekistan Vanuatu Vatican City Venezuela Vietnam Yemen Zambia Zimbabwe Phone Number * Fax (optional) Email for results in cc Sender's details (internal) Customer Astudillo Bassani Breda Klobus Brunner Chiesa Espin Forzano Genetics Globa kyriacou imad MARADEI MATTOS OZER Pedalino Peila Pereira Pereira da Conceicao Plaiasu Reis-Lima Savu TOMMASINI Valencia Violeta Title Name * Surname * Email address * Company / Institution * Department [optional] Street * Number * City * Postal code * Country * Afghanistan Albania Algeria Andorra Angola Antigua & Deps Argentina Armenia Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bhutan Bolivia Bosnia Herzegovina Botswana Brazil Brunei Bulgaria Burkina Burundi Cambodia Cameroon Canada Cape Verde Central African Rep Chad Chile China Colombia Comoros Congo Congo {Democratic Rep} Costa Rica Croatia Cuba Cyprus Czech Republic Denmark Djibouti Dominica Dominican Republic East Timor Ecuador Egypt El Salvador Equatorial Guinea Eritrea Estonia Ethiopia Fiji Finland France Gabon Gambia Georgia Germany Ghana Greece Grenada Guatemala Guinea Guinea-Bissau Guyana Haiti Honduras Hungary Iceland India Indonesia Iran Iraq Ireland {Republic} Israel Italy Ivory Coast Jamaica Japan Jordan Kazakhstan Kenya Kiribati Korea North Korea South Kosovo Kuwait Kyrgyzstan Laos Latvia Lebanon Lesotho Liberia Libya Liechtenstein Lithuania Luxembourg Macedonia Madagascar Malawi Malaysia Maldives Mali Malta Marshall Islands Mauritania Mauritius Mexico Micronesia Moldova Monaco Mongolia Montenegro Morocco Mozambique Myanmar, {Burma} Namibia Nauru Nepal Netherlands New Zealand Nicaragua Niger Nigeria Norway Oman Pakistan Palau Panama Papua New Guinea Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Rwanda St Kitts & Nevis St Lucia Saint Vincent & the Grenadines Samoa San Marino Sao Tome & Principe Saudi Arabia Senegal Serbia Seychelles Sierra Leone Singapore Slovakia Slovenia Solomon Islands Somalia South Africa South Sudan Spain Sri Lanka Sudan Suriname Swaziland Sweden Switzerland Syria Taiwan Tajikistan Tanzania Thailand Togo Tonga Trinidad & Tobago Tunisia Turkey Turkmenistan Tuvalu Uganda Ukraine United Arab Emirates United Kingdom United States Uruguay Uzbekistan Vanuatu Vatican City Venezuela Vietnam Yemen Zambia Zimbabwe Phone Number * Fax (optional) Email for results in cc Billing details Billing * Sender Company / Institution Patient / Other (e.g. Charity) Please add invoicing details, which may be retained for future orders. Tax code / VAT number (Sender / Patient / Other) * If any, please enter local tax code. VAT number (company/institution) If any, please enter company / institution VAT number or tax code Email address (billing) * Name (Payer / Charity association) * Surname (Payer) Full address (Payer) * (Street, number, postal code, city. Country (Payer) Afghanistan Albania Algeria Andorra Angola Antigua & Deps Argentina Armenia Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bhutan Bolivia Bosnia Herzegovina Botswana Brazil Brunei Bulgaria Burkina Burundi Cambodia Cameroon Canada Cape Verde Central African Rep Chad Chile China Colombia Comoros Congo Congo {Democratic Rep} Costa Rica Croatia Cuba Cyprus Czech Republic Denmark Djibouti Dominica Dominican Republic East Timor Ecuador Egypt El Salvador Equatorial Guinea Eritrea Estonia Ethiopia Fiji Finland France Gabon Gambia Georgia Germany Ghana Greece Grenada Guatemala Guinea Guinea-Bissau Guyana Haiti Honduras Hungary Iceland India Indonesia Iran Iraq Ireland {Republic} Israel Italy Ivory Coast Jamaica Japan Jordan Kazakhstan Kenya Kiribati Korea North Korea South Kosovo Kuwait Kyrgyzstan Laos Latvia Lebanon Lesotho Liberia Libya Liechtenstein Lithuania Luxembourg Macedonia Madagascar Malawi Malaysia Maldives Mali Malta Marshall Islands Mauritania Mauritius Mexico Micronesia Moldova Monaco Mongolia Montenegro Morocco Mozambique Myanmar, {Burma} Namibia Nauru Nepal Netherlands New Zealand Nicaragua Niger Nigeria Norway Oman Pakistan Palau Panama Papua New Guinea Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Rwanda St Kitts & Nevis St Lucia Saint Vincent & the Grenadines Samoa San Marino Sao Tome & Principe Saudi Arabia Senegal Serbia Seychelles Sierra Leone Singapore Slovakia Slovenia Solomon Islands Somalia South Africa South Sudan Spain Sri Lanka Sudan Suriname Swaziland Sweden Switzerland Syria Taiwan Tajikistan Tanzania Thailand Togo Tonga Trinidad & Tobago Tunisia Turkey Turkmenistan Tuvalu Uganda Ukraine United Arab Emirates United Kingdom United States Uruguay Uzbekistan Vanuatu Vatican City Venezuela Vietnam Yemen Zambia Zimbabwe [Calculations] [Calc - for results in cc] Order type Order type * Menu (standard price) [check price on bottom of page] I have my own quotation Quotation number * Please enter quotation number Sample details Sample code * (as on tube) Sample type * DNA Buccal swab EDTA-blood Dried blood spots Service requested * Mendeliome (2,800 genes) Clinical exome (5,200 genes) Whole exome V7 (20,000 genes) Whole exome V6 (20,000 genes) Whole exome V6 + UTRs (20,000 genes + UTRs) Whole genome sequencing Coverage (Mendeliome) * 90x on target (raw 180x) Coverage (Clinical exome sequencing) * 100x on target (raw 180x) Coverage (Whole exome V7) * 50x on target (raw 100x) 100x on target (raw 200x) 300x on target (raw 600x) Coverage (Whole exome V6) * 50x on target (raw 100x) 100x on target (raw 200x) 300x on target (raw 600x) Coverage (Whole exome V6 + UTRs) * 50x on target (raw 100x) 100x on target (raw 200x) 150x on target (raw 600x) Coverage (Whole genome sequencing) * 30x on target (raw 40x) 40x on target (raw 50x) Turnaround time * Priority (3-4 weeks) Standard (7-8 weeks) Bioinformatics * Yes No (FASTQs only) Our Bioinformatics service tailored for Mendelian Diagnostics [Additional charge] Deliverables * VCF (filtered) VCF (unfiltered) VCF (raw) BAM Annotation Metrics CNV exome-wide Pre-clinical analysis Yes [additional charge] No [Additional charge] Pre-clinical options * PRIO50 FULL SCAN SECONDARY FINDINGS CARRIER 1st LEVEL CARRIER 2nd LEVEL Get the list of the first 50 variants prioritized by artificial intelligence based on the clinical info of the sample. Note: Artificial intelligence only, no human filtering. Get a research report with the possible diagnosis based on sample clinical info. This step is mediated both by artificial intelligence and human filtering. Note: PRIO50 is NOT included in this option. Scanning of the incidental/secondary finding according to the ACMG list (2016 update). Note ACMG list genes only. Get the list of all variants which determine the status of healthy carrier for recessive conditions (autosomal and X-linked): variants already deposited in ClinVar only. Get the list of all variants which determine the status of healthy carrier for recessive conditions (autosomal and X-linked): variants previously unknown which are predicted to disrupt the protein function. Samples clinical info * Please enter the sample clinical info, either as text or as HPO terms. 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