Patient Name: Birthdate (YYYY-MM-DD): 555 University Avenue Room 3416, Roy C. Hill Wing Gender: Male Female Toronto, ON, M5G 1X8, Canada Parent’s Name: Tel: 416-813-7200 x1 Address: Fax: 416-813-7732 (CLIA # 99D1014032) Telephone #: For Canada Only 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:
Address: Reason for Testing: Diagnosis Carrier testing
Phone Fax Familial mutation/variant analysis Prenatal testing Bank DNA only Email address: Other (Specify):
Signature (required) If expedited testing is requested, please indicate reason Pregnancy (Gestational age (weeks): ) Copy Report To: Other (Specify: ) Name: Familial Mutation/Variant Analysis: Address: For prenatal testing and cases where a familial mutation or variant is known, please complete below and attach a copy of the proband’s report:
Gene:
Phone Fax Mutation/variant(s):
SickKids Laboratory number: Sample Information: Date obtained (YYYY-MM-DD): ______-______-______SickKids Pedigree number:
Your referring laboratory reference #: Name of proband: Blood in EDTA (purple top tube): min. 4 mL (0.5-3 mL for newborns) Relationship to proband/fetus: DNA: min.10 ug in low TE buffer (Source: ) Direct CVS: min. 10 mg direct villi Clinical Diagnostics and Family History: Cultured villi: 1-2 confluent T25 flasks Please draw or attach a pedigree and provide any relevant information Amniocytes: 1-2 confluent T25 flasks below, including clinical and family history details, as this is important for Tissue (Source: ) accurate interpretation of results. Other (Specify: )
Laboratory Use:
Date (YYYY-MM-DD ) | Time Received: ______- ______- ______| ______h
Lab #:
Specimen type, amt & # of tubes: Ethnicity:
Comments: Ordering Checklist: c Specimen tube labeled with at least two identifiers c Completed test requisition form (pages 1-5) Clinical information must be provided on pages 4 -5 for all Next-Generation Sequencing tests. Testing will not proceed until these are provided. Pedigree No. / Patient No. ______/ ______c Completed billing form (page 6, if applicable)
DPLM Form #: OPL1000RGA-Ext/15, 2017-01-23 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 Birthdate (YYYY-MM-DD): Fax: 416-813-7732
(CLIA # 99D1014032) Gender: Male Female 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 Cancer Related Tests Continued 22q11 deletion/duplication analysis BRAF testing Angelman Syndrome BRAF digital PCR for p.V600E (c.1799T>A) Methylation and deletion/duplication analysis Charge Syndrome UPD15 analysis (please submit parental samples) CHD7 Sanger sequence analysis Arrhythmogenic Right Ventricular Cardiomyopathy CHD7 deletion/duplication analysis Sanger sequence analysis panel (5 genes): Cherubism DSC2, DSG2, DSP, PKP2, TMEM43 SH3BP2 recurrent mutation analysis Ashkenazi Jewish Carrier Screening SH3BP2 Sanger sequence analysis Recurrent mutation analysis (7 diseases): Congenital Muscular Dystrophies Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia Group C, Mucolipidosis Type IV, Niemann-Pick Sanger sequence analysis panel (5 genes): disease, Tay-Sachs disease FCMD, FKRP, POMGnT1, POMT1, POMT2 Atypical Hemolytic Uremic Syndrome / Connective Tissue Disease Membranoproliferative Glomerulonephritis Clinical information must be provided on pages 4 and 5 Sanger sequence analysis panel (8 genes): Ehlers Danlos Syndrome NGS panel (18 genes) APLN, C3, CD46, CFB, CFH, CFHR5, CFI, THBD Osteogenesis Imperfecta NGS panel (17 genes) Osteopetrosis and Disorders of Increased Bone Density Autoinflammatory Disease NGS panel (9 genes) Clinical information must be provided on pages 4 and 5 Bone Involvement NGS panel (43 genes) Recurrent Fever Syndrome (RFS) NGS panel (17 genes) Deletion/duplication analysis Hemophagocytic Lymphohistiocytosis (HLH) NGS panel (14 genes) Craniosynostosis Deletion/duplication analysis Apert Syndrome (FGFR2 recurrent mutations analysis) Becker Muscular Dystrophy Crouzon Syndrome (FGFR2, FGFR3 recurrent mutation analysis) DMD Sanger sequence analysis Pfeiffer Syndrome (FGFR1, FGFR2, FGFR3 recurrent mutation analysis) DMD deletion/duplication analysis Saethre-Chotzen Syndrome (TWIST sequence analysis and FGFR3 recurrent mutation analysis) Beckwith-Wiedemann Syndrome Non-Syndromic Craniosynostosis (FGFR3 recurrent mutation analysis) IC1 and IC2 methylation and 11p15 deletion/duplication analysis FGFR2, FGFR3 and TWIST deletion/duplication analysis UPD11 analysis (please submit parental samples) CDKN1C Sanger sequence analysis Cystic Fibrosis CFTR recurrent mutation analysis Bone Marrow Transplantation CFTR Sanger sequence analysis Post-transplant monitoring CFTR deletion/duplication analysis
Branchio-Oto-Renal Syndrome Dopamine Beta-Hydroxylase Deficiency EYA1 Sanger sequence analysis DBH Sanger sequence analysis EYA1 deletion/duplication analysis Duchenne Muscular Dystrophy Caffey Disease DMD Sanger sequence analysis COL1A1 recurrent mutation analysis DMD deletion/duplication analysis DMD mRNA analysis (please contact the laboratory before ordering) Cancer Related Tests Fabry Disease Li-Fraumeni Syndrome GLA Sanger sequence analysis p53 Sanger sequence analysis GLA deletion/duplication analysis p53 deletion/duplication analysis GLA mRNA analysis (please contact the laboratory before ordering)
Rhabdoid Tumour Predisposition Syndrome Focal Segmental Glomerulosclerosis SMARCB1 Sanger sequence analysis Sanger sequence analysis panel (5 genes): SMARCB1 deletion/duplication analysis ACTN4, CD2AP, NPHS1, NPHS2, TRPC6
ALK testing Fragile X Syndrome ALK Sanger sequence analysis (only possible on high quality DNA) FMR1 trinucleotide repeat analysis ALK digital PCR for p.F1245V (c.3733T>G), p.F1174L (c.3522C>A), p.R1275Q (c.3824G>A)
DPLM Form #: OPL1000RGA-Ext/15, 2017-01-23 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 Birthdate (YYYY-MM-DD): Fax: 416-813-7732
(CLIA # 99D1014032) Gender: Male Female 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 FMR2 trinucleotide repeat analysis (please send maternal sample) (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 Sanger sequence analysis SPRED1 deletion/duplication analysis GJB6 deletion/duplication analysis Neuronal Ceroid Lipofuscinoses (Batten Disease) Hearing Loss: Non-Syndromic, X-Linked CLN1, CLN2 and CLN3 recurrent mutation analysis POU3F4 Sanger sequence analysis Sanger sequence analysis panel (8 genes): POU3F4 deletion/duplication analysis CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10
Hearing Loss: Aminoglycoside-induced, Mitochondrial Noonan Syndrome and RASopathies MTRNR1, MTTS1 recurrent mutation analysis Clinical information must be provided on pages 4 and 5 Noonan Syndrome and RASopathies panel (13 genes) Hearing Loss: Pendred Syndrome Deletion/duplication analysis for SPRED1 only SLC26A4 Sanger sequence analysis SLC26A4 deletion/duplication analysis Prader-Willi Syndrome Hereditary Hearing Loss Methylation and deletion/duplication analysis Clinical information must be provided on pages 4 and 5 UPD15 analysis (please submit parental samples) When the Common and Non-syndromic Hearing Loss NGS Panel is requested, testing will begin with GJB2 and GJB6 testing. If negative, Russell-Silver Syndrome reflex testing to NGS testing will be initiated. IC1 methylation and 11p15 deletion/duplication analysis UPD7 analysis (please submit parental samples) Common and Non-syndromic Hearing Loss NGS panel (56 genes) Usher Syndrome NGS panel (9 genes) Shwachman-Diamond Syndrome Stickler Syndrome NGS panel (6 genes) SBDS Sanger sequence analysis (exon 2 only) Alport Syndrome, Norrie Syndrome, Treacher Collins Syndrome, Waardenburg Syndrome NGS panel (9 genes) Simpson-Golabi-Behmel Syndrome Deletion/duplication analysis GPC3 Sanger sequence analysis Hereditary Hemorrhagic Telangiectasia GPC3 and GPC4 deletion/duplication analysis ACVRL1 Sanger sequence analysis Skeletal Dysplasia ENG Sanger sequence analysis ACVRL1 and ENG deletion/duplication analysis Achondroplasia (FGFR3 recurrent mutation analysis) SMAD4 Sanger sequence analysis Hypochondroplasia (FGFR3 recurrent mutation analysis) Thanatophoric Dysplasia (FGFR3 recurrent mutation analysis) Hereditary Spastic Paraplegia Clinical information must be provided on pages 4 and 5 Spinal and Bulbar Muscular Atrophy Autosomal Dominant HSP NGS panel (12 genes) AR trinucleotide repeat analysis Autosomal Recessive HSP NGS panel (36 genes) X-Linked HSP NGS panel (3 genes) Spinal Muscular Atrophy Deletion/duplication analysis SMN1 and SMN2 deletion/duplication analysis
Hunter Disease Trismus Pseudocamptodactyly Syndrome IDS Sanger sequence analysis MYH8 Sanger sequence analysis IDS deletion/duplication analysis IDS mRNA analysis (please contact the laboratory) X-Inactivation Analysis
Identity Testing Other: Tissue matching Zygosity studies
Next-Generation Sequencing (NGS) testing will only be initiated if the clinical Testing for research/investigational purposes only information sections, located on pages 4 and 5 of the requisition form, are completed. For more information on our Next-Generation Sequencing (NGS) For information on the testing requirement for Fragile X E, please visit the panels, including the list of genes tested, please visit our website: Specimen Requirements section for Fragile X E Syndrome on our website: www.sickkids.ca/genome-diagnostics www.sickkids.ca/genome-diagnostics/FragileXE
DPLM Form #: OPL1000RGA-Ext/15, 2017-01-23 Referred-in Client Requisition Page 3 of 6 555 University Avenue Patient Name: Room 3416, Roy C. Hill Wing Toronto, ON, M5G 1X8, Canada Birthdate (YYYY-MM-DD):
Tel: 416-813-7200 x1 Fax: 416-813-7732 Gender: Male Female (CLIA # 99D1014032)
Genome Diagnostics Clincial Information (Required)
DISEASE SPECIFIC FEATURES Autoinflammatory Disorders Connective Tissue Disorders Hereditary Spastic Paraplegia Neurofibromatosis type 1 (NF1) / (RFS/HLH) Ascending aortic dilation (HSP) Legius syndrome Abnormal inflammatory response Aortic dissection Abnormal corpus callosum The patient meets the NIH criteria Fevers Mitral valve regurgitation Cognitive impairment for a clinical diagnosis of NF1 Arthritis Mitral valve prolapse Ataxia Spasticity (≥2 of the clinical features below). Pulmonary complications Bicuspid aortic valve Hyperreflexia Seizures ≥6 café-au-lait macules Gastrointestinal irritation Pulmonary hypertension Extensor plantar reflex Neurofibromas, ≥ 2 or ≥ 1 Plexiform Hepatosplenomegaly Cleft palate Other: Freckling, axillary or inguinal Lymphadenopathy High arched palate The following investigations are Optic glioma Hemophagocytosis Micrognathia required before molecular testing of ≥2 Lisch nodules (iris hamartomas) Oral ulcers Retrognathia HSP is undertaken: Osseous lesion (type: ) Rash, specify: Bifid uvula First degree relative diagnosed with Loose/stretchable skin MRI – Brain and spinal cord Ocular inflammation specify: NF1 by above criteria Edema (periorbital, optic disk) Translucent skin Biochemical testing - Vitamin B12, Vision loss Easy bruising vitamin E, very long chain fatty acids, If the patient does not meet the NIH Other: Myopia lysosomal work-up, plasma amino criteria for a clinical diagnosis of Lens dislocation acids and serum lipoprotein analysis NF1, rationale for testing must be Hearing Loss Blue/gray sclerae (as appropriate) provided on page 5. Age of onset: Joint hypermobility Joint pain Sensorineural hearing loss Noonan Syndrome and RASopathies Scoliosis Conductive hearing loss Increased nuchal translucency Developmental delay Arachnodactyly Mixed hearing loss Characteristic facies Broad or webbed neck Bilateral Unilateral Club foot Heart defect (specify: ) Hypertrophic cardiomyopathy Syndromic Non-syndromic Thumb sign Short stature (%ile: ) Pectus deformity Ear anomalies Ear tags Wrist sign Lymphatic dysplasias Eye anomalies Renal anomalies Pectus deformity Characteristic hematological abnormality (specify: ) White forelock Cardiac anomalies Other: Other RASopathy features: (specify: ) Hirschsprung disease For postnatal patients: The patient must present with ≥2 of the above Other: features for molecular testing to be undertaken
GENERAL CLINICAL INFORMATION Perinatal history Craniofacial/Ophthalmalogic Gastrointestinal Neurological/Muscular Premature birth Abnormal face shape Gastroschisis/omphalocele Ataxia Hypotonia IUGR Blindness Cataracts Gastrointestinal reflux Chorea Hypertonia Oligohydramnios Polyhydramnios Coloboma Optic atrophy Pyloric stenosis Dystonia Spasticity Other: Opthalmoplegia Ptosis Tracheoesophageal fistula Exercise intolerance/ easy fatigue Retinitis pigmentosa Hepatic failure Headache/migraine Growth Oral cleft Chronic intestinal pseudo-obstruction Muscle weakness Failure to thrive Other: Hirschsprung disease Seizures (type: ) Growth retardation/short stature Recurrent vomiting Stroke/stroke-like episodes Overgrowth Brain malformations/ Chronic diarrhea Other: Macrocephaly Microcephaly abnormal imaging Constipation Other: Abnormality of the basal ganglia Other: Skeletal/Limb abnormalities Agenesis of the corpus callosum Contractures Club foot Physical/cognitive development Brain atrophy Genitourinary abnormalities Polydactyly Syndactyly Delayed fine motor development Cortical dysplasia Ambiguous genitalia Vertebral anomaly Scoliosis Delayed gross motor development Hemimegalencephaly Cryptorchidism Other: Delayed speech and language Heterotopia Hypospadias Autistic behavior Skin/Hair Holoprosencephaly Hydronephrosis Intellectual disability Abnormality of the hair pattern, Hydrocephalus Kidney malformation Developmental regression quantity Lissencephaly Renal agenesis Other: Abnormal nail growth Periventricular leukomalacia Proximal renal tubulopathy Abnormal pigmentation Other: Other: Behavioral Café-au-lait macules Autistic features Cardiac/congenital heart Endocrine Neoplasms of the skin Obsessive-compulsive disorder Diabetes mellitus Type 1 Neurofibromas Other psychiatric symptoms malformations ASD VSD Diabetes mellitus Type 2 Blistering Other: Coarctation of aorta Hypothyroidism Ichthyosis Cancer/Malignancy Hypoplastic left heart Hypoparathyroidism Other: Age of onset: Tetralogy of Fallot Pheochromocytoma/paraganglioma Tumor type: Cardiomyopathy Other: Location(s): Arrhythmia/conduction defect Other:
DPLM Form #: OPL1000RGA-Ext/15, 2017-01-23 Referred-in Client Requisition Page 4 of 6 555 University Avenue Room 3416, Roy C. Hill Wing Patient Name: Toronto, ON, M5G 1X8, Canada
Tel: 416-813-7200 x1 Birthdate (YYYY-MM-DD): Fax: 416-813-7732
(CLIA # 99D1014032) Gender: Male Female Genome Diagnostics
Additional Relevant Clinical Information
Previous Genetic Testing No Yes – Test Results
Ethnicity:
Family History
Please draw or attach a pedigree and provide any relevant information below, including clinical and family history details, as this is important for accurate interpretation of results.
DPLM Form #: OPL1000RGA-Ext/15, 2017-01-23 Referred-in Client Requisition Page 5 of 6 Patient Name: 555 University Avenue Room 3416, Roy C. Hill Wing Birthdate (YYYY-MM-DD): Toronto, ON, M5G 1X8, Canada Gender: Male Female Tel: 416-813-7200 x1 Fax: 416-813-7732 (CLIA # 99D1014032) Completion of Billing Form NOT required for patients Genome Diagnostics with an Ontario Health Card Number.
BILLING FORM
At your direction, we will bill the hospital, referring laboratory, referring physician, or a patient/guardian, for the services we render • Invoices are sent upon completion of each test/service. • Invoices are itemized and include the date of service, patient name, CPT code, test name and charge. • Contact SickKids’ Genome Diagnostics Laboratory at 416-813-7200 x1 with billing inquiries.
How to complete the Billing Form: • Referring Physician completes the appropriate section below to specify billing method. • Send requisition and completed “Billing Form” with specimen.
Section 1: Complete to have the Healthcare Provider billed:
Your Referring Laboratory’s Reference #:
Billing address of hospital, referring laboratory, clinic, referring physician, or medical group: (if different from requisition): Name: Address: City: Prov/State: Postal/Zip Code: Country:
Contact Name: Contact Telephone #:
Section 2: Complete to have Patient/Guardian billed directly:
If you elect to have patient/guardian billed: • Patient/Guardian billing information below must be complete; otherwise, the healthcare provider will be billed. • Please advise the patient/guardian to expect a bill from our laboratory. • Provide us with patient’s valid credit card information. • Unfortunately, we cannot accept personal checks. • In this case, the patient/guardian is solely responsible for the charges.
Send bill to (check one): Patient Guardian
Method of Payment (check one): American Express MasterCard Visa
Name as it appears on credit card:
Credit card # :
Expiry date on credit card:
Signature of credit card holder (Required):
Mailing Address of Patient/Guardian (if different from requisition): Additional Contact Information
Name: Patient’s phone # with area code: Address: Apt. #: - or - City: Prov/State: Guardian’s phone # with area code: Postal/Zip Code: Country:
DPLM Form #: OPL1000RGA-Ext/15, 2017-01-23 Referred-in Client Requisition Page 6 of 6