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Genome Diagnostics Billing Req Ext20

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Genome Diagnostics Billing Req Ext20 Patient Name: Date of Birth (DD/MM/YYYY): 555 University Avenue Room 3416, Roy C. Hill Wing Gender: Male Female MRN: Toronto, ON, M5G 1X8, Canada Parent’s Name: Tel: 416-813-7200 x1 Address: Fax: 416-813-7732 (CLIA # 99D1014032) Telephone #: For Canada Only (Billing section must be completed for all non-OHIP) Genome Diagnostics Provincial Health Card #: Version: www.sickkids.ca/genome-diagnostics Issuing Province: Referring Physician: Test request (write below and/ or check box(es) on pages 2 and 3): Name: Facility/Ward/Clinic (required): Reason for Testing: Address: Diagnosis Carrier testing Familial mutation/variant analysis Prenatal testing Phone Fax Bank DNA only Other (Specify): Email address: If expedited testing is requested, indicate reason Signature (required) Pregnancy (Gestational age (weeks): ) Other (Specify: ) Copy Report To (if selected, all below information is required): Familial Mutation/Variant Analysis: Name: For prenatal testing and cases where a familial mutation or variant is known, Address: complete below and attach a copy of the proband’s report: Gene & NM#: Phone Fax Mutation/variant(s): SickKids Laboratory/Order number: Sample Information: SickKids Pedigree/Family number: Date obtained (DD/MM/YYYY): _______ -________-________ Name of proband: Referring laboratory reference #: Relationship to proband/fetus: Blood in EDTA (purple top tube): min. 4 mL (0.5-3 mL for newborns) Name(s) & DOB of other submitted family members DNA: min.10 ug in low TE buffer (Source: ) Direct CVS: min. 10 mg direct villi Cultured villi: 1-2 confluent T25 flasks Cultured amniocytes: 1-2 confluent T25 flasks Tissue (Source: ) Ordering Checklist: Other (Specify: ) Specimen tube labeled with at least two identifiers Closed consent: Completed test requisition form (pages 1-5) (If checked, all remaining DNA will be discarded upon notification by the Clinical information must be provided on pages 4 -5 for all ordering physician that all DNA testing has been completed) Next-Generation Sequencing tests. Testing will not proceed until these are provided. Completed billing form (page 6, if applicable) Laboratory Use: Date (DD/MM/YYYY) | Time Received: Clinical Diagnostics and Family History: _______________ - __________ - __________ | ____________ h Draw or attach a pedigree and provide any relevant information below, including clinical and family history details, as this is important for accurate Lab #: interpretation of results Specimen type, amt & # of tubes: Comments: ________________________________________ Pedigree No. / Patient No. ______________ / ______________ Ethnicity: DPLM Form #: OPL1000RGA-Ext/20, 2020/11/11 Referred-in Client Requisition Page 1 of 6 555 University Avenue Room 3416, Roy C. Hill Wing Patient Name: Toronto, ON, M5G 1X8, Canada Tel: 416-813-7200 x1 Date of Birth (DD/MM/YYYY): Fax: 416-813-7732 (CLIA # 99D1014032) Gender: Male Female MRN: Genome Diagnostics LIST OF TESTS AVAILABLE BY DISEASE For prenatal testing and cases where a familial mutation/variant is known, please include information on page 1. 22q11 Deletion Syndrome Charge Syndrome 22q11 deletion/duplication analysis CHD7 sequence analysis CHD7 deletion/duplication analysis Angelman Syndrome Methylation and deletion/duplication analysis Cherubism UPD15 analysis (submit parental samples) SH3BP2 recurrent mutation analysis SH3BP2 sequence analysis Arrhythmogenic Right Ventricular Cardiomyopathy Sequence analysis panel: Congenital Muscular Dystrophies DSC2, DSG2, DSP, PKP2, TMEM43 Sequence analysis panel: FKTN (FCMD), FKRP, POMGnT1, POMT1, POMT2 Ashkenazi Jewish Carrier Screening Use: Carrier Screening: Tay-Sachs Enzyme Testing & Connective Tissue Disease Ashkenazi Jewish Molecular Panel Requisition Clinical information must be provided on pages 4 and 5 If more than one panel is requested, rationale must be provided on page 5. Atypical Hemolytic Uremic Syndrome / Ehlers Danlos Syndrome NGS panel Membranoproliferative Glomerulonephritis Osteogenesis Imperfecta NGS panel Sequence analysis panel Osteopetrosis and Disorders of Increased Bone Density NGS panel Bone Involvement NGS panel Deletion/duplication analysis Autoinflammatory Disease Clinical information must be provided on pages 4 and 5 Craniosynostosis Recurrent Fever Syndrome (RFS) NGS panel Apert Syndrome (FGFR2 recurrent mutations analysis) Hemophagocytic Lymphohistiocytosis (HLH) NGS panel Crouzon Syndrome (FGFR2, FGFR3 recurrent mutation analysis) Deletion/duplication analysis Pfeiffer Syndrome (FGFR1, FGFR2, FGFR3 recurrent mutation analysis) Saethre-Chotzen Syndrome (TWIST1 sequence analysis and FGFR3 Becker Muscular Dystrophy recurrent mutation analysis) DMD Sequence analysis Non-Syndromic Craniosynostosis (FGFR3 recurrent mutation analysis) DMD deletion/duplication analysis TWIST1 deletion/duplication analysis Beckwith-Wiedemann Syndrome Cystic Fibrosis IC1 and IC2 methylation and 11p15 deletion/duplication analysis For prenatal echogenic bowel, ensure parental samples are linked to each UPD11 analysis other on both requisitions with at least two identifiers. Ensure “echogenic CDKN1C Sequence analysis bowel” is indicated on the Family History section on Page 1. Bone Marrow Transplantation CFTR recurrent mutation analysis CFTR Sequence analysis Post-transplant monitoring CFTR deletion/duplication analysis Branchio-Oto-Renal Syndrome Dopamine Beta-Hydroxylase Deficiency EYA1 Sequence analysis DBH Sequence analysis EYA1 deletion/duplication analysis Duchenne Muscular Dystrophy Caffey Disease DMD Sequence analysis COL1A1 recurrent mutation analysis DMD deletion/duplication analysis DMD mRNA analysis (contact the laboratory before ordering) Cancer Related Tests Li-Fraumeni Syndrome Fabry Disease TP53 Sequence analysis GLA Sequence analysis TP53 deletion/duplication analysis GLA deletion/duplication analysis GLA mRNA analysis (contact the laboratory before ordering) Rhabdoid Tumour Predisposition Syndrome Focal Segmental Glomerulosclerosis SMARCB1 Sequence analysis SMARCB1 deletion/duplication analysis Sequence analysis panel Fragile X Syndrome FMR1 trinucleotide repeat analysis DPLM Form #: OPL1000RGA-Ext/20, 2020/11/11 Referred-in Client Requisition Page 2 of 6 555 University Avenue Room 3416, Roy C. Hill Wing Patient Name: Toronto, ON, M5G 1X8, Canada Tel: 416-813-7200 x1 Date of Birth (DD/MM/YYYY): Fax: 416-813-7732 (CLIA # 99D1014032) Gender: Male Female MRN: Genome Diagnostics LIST OF TESTS AVAILABLE BY DISEASE For prenatal testing and cases where a familial mutation/variant is known, please include information on page 1. Fragile X E Syndrome Maternal Cell Contamination Studies AFF2 trinucleotide repeat analysis (maternal sample required) (See testing requirements) Neurofibromatosis type 1/Legius syndrome Gaucher Disease Clinical information must be provided on pages 4 and 5 GBA recurrent mutation analysis NF1 sequence analysis NF1 deletion/duplication analysis Hearing Loss: Non-Syndromic, Autosomal Recessive SPRED1 sequence analysis GJB2 Sequence analysis SPRED1 deletion/duplication analysis GJB6 deletion/duplication analysis Neuronal Ceroid Lipofuscinoses (Batten Disease) Hearing Loss: Pendred Syndrome PPT1 (CLN1), TPP1 (CLN2) and CLN3 recurrent mutation analysis SLC26A4 Sequence analysis Sequence analysis panel: SLC26A4 deletion/duplication analysis PPT1(CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, CLN7, CLN8, CLN10 Hereditary Hearing Loss Noonan Syndrome and RASopathies Clinical information must be provided on pages 4 and 5 Clinical information must be provided on pages 4 and 5 When the Common and Non-syndromic Hearing Loss Panel is requested, Noonan Syndrome and RASopathies panel STRC dosage is tested. Deletion/duplication analysis for SPRED1 only Common and Non-syndromic Hearing Loss NGS panel Usher Syndrome NGS panel Prader-Willi Syndrome Stickler Syndrome NGS panel Methylation and deletion/duplication analysis Alport Syndrome, Norrie Syndrome, Treacher Collins Syndrome, UPD15 analysis (parental samples required) Waardenburg Syndrome NGS panel Deletion/duplication analysis Russell-Silver Syndrome IC1 methylation and 11p15 deletion/duplication analysis Hereditary Hemorrhagic Telangiectasia UPD7 analysis (parental samples required) ACVRL1 Sequence analysis ENG Sequence analysis Shwachman-Diamond Syndrome ACVRL1 and ENG deletion/duplication analysis SBDS Sequence analysis SMAD4 Sequence analysis Simpson-Golabi-Behmel Syndrome Hereditary Spastic Paraplegia Clinical information must be provided on pages 4 and 5 GPC3 sequence analysis and GPC3 and GPC4 deletion/duplication analysis Autosomal Dominant HSP NGS panel Autosomal Recessive HSP NGS panel Skeletal Dysplasia X-Linked HSP NGS panel Deletion/duplication analysis Achondroplasia (FGFR3 recurrent mutation analysis) Hypochondroplasia (FGFR3 recurrent mutation analysis) Hunter Disease Thanatophoric Dysplasia (FGFR3 recurrent mutation analysis) IDS Sequence analysis IDS deletion/duplication analysis Spinal and Bulbar Muscular Atrophy IDS mRNA analysis (contact the laboratory before ordering) AR trinucleotide repeat analysis Identity Testing Spinal Muscular Atrophy Zygosity studies SMN1 and SMN2 deletion/duplication analysis Trismus Pseudocamptodactyly Syndrome MYH8 Sequence analysis X-Inactivation Analysis Other: Next-Generation Sequencing (NGS) testing will only be initiated if the clinical information sections, located on pages 4 and 5 of the requisition form, are completed. For more information on our Next-Generation
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