Ordering Physician Information Additional Report Recipient 1
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1 Test Selection Targeted Whole Exome Sequencing - Proband Only Targeted Whole Exome Sequencing - Trio Confirmatory Sanger sequencing validation Re-analysis (at least one year after initial analysis) Specimen Information Sample type Whole Blood (in EDTA, 2-5 ml in lavender top tube) Oral Rinse (At least 30 ml of Scope oral rinse in 50ml falcon tube) DNA, source Collection Date (YYYY-MM-DD): This specimen is (specify): Proband (i.e. affected child) Proband's Father Proband's Mother Label each tube with the subject s initials, PHN, and specimen collection date. Sample label must match requisition form. Patient has had a blood transfusion No Yes Date of last transfusion (YYYY-MM-DD) _ Specimens are not accepted for patients who have had: allogeneic bone marrow transplants; blood transfusion <2-4 weeks prior to specimen collection DNA must be extracted in a suitably certified laboratory Ordering Physician Information Additional Report Recipient 1 Physician Name: City: Province: Physician/GC * Name: *Genetic Counselor Postal Code: Additional Report Recipient 2 Institution: Physician/GC * Name: *Genetic Counselor Requesting Laboratory (for confirmatory Sanger sequencing validation only) Facility Name: HGNC gene symbol: Genomic position (hg19): City: Province: Ref/Alt allele: Postal Code: HGVS* DNA change: Telephone: HGVS* protein change: Contact Name: * Neurocode Labs Use Only Received Date: (Patient information Sticker) Received Person: Neurocode Labs, Inc. Test Requisition Form External Payer v.2.0 page 1 of 5
2 Payment Information (required) Name: City: Province/State: Postal Code: Country: Patient Information Last Name: First Name and Initials: Family History (including information about parental consanguinity): Contact Neurocode Labs, Inc. for pricing. Cheque or Bank Draft (make payable to Neurocode Labs, Inc.) in Canadian funds. Bank Transfer please contact Neurocode Labs, Inc. for account information: Sex (check one): female male unknown PHN: Ethnicity (check all that apply): African Ashkenazi Asian Caucasian First Nations Hispanic Other (specify ) Biological Parent Data - Mother Biological Parent Data - Father Last Name: First Name and Initials: Last Name: First Name and Initials: Affected: Yes No No, but a family member is Affected: Yes No No, but a family member is Sample: Not Available Sent Separately Also included Sample: Not Available Sent Separately Also included Clinical Diagnosis Clinical diagnosis: Describe the most relevant clinical findings supporting the diagnosis (attach possible supportive material): Detailed clinical information is crucial for accurate interpretation of results. Previous Clinical Investigations Karyotype: Not applicable Normal Abnormal, specify: Microarray: Not applicable Normal Abnormal, specify: Metabolic testing: Not applicable Normal Abnormal, specify: Single gene / Multi-gene panel: Not applicable I Normal Abnormal, specify: Other tests: Neurocode Labs, Inc. Test Requisition Form External Payer v.2.0 page 2 of 5
3 Clinical Information Please check all that apply. PERINATAL HISTORY Cystic Hygroma Hydrops Fetalis Increased Nuchal Translucency (NT) Intrauterine Growth Restriction (IUGR) Oligohydramnios Polyhydramnios Prematurity Other GROWTH Failure to Thrive Growth retardation/short stature Overgrowth Other NERODEVELOPMENTAL ADHD Autism Developmental Delay Intellectual Disability, IQ: Encephalopathy Fine Motor Delay Gross Motor Delay Seizure (type: ) Psychiatric symptoms Learning Disability Obsessive-Compulsive Disorder Speech Delay Other BRAIN MALFORMATIONS/ABNORMAL IMAGING Abnormalities of basal ganglia Agenesis of the corpus callosum Brain atrophy Cortical dysplasia Hemimegalencephaly Heterotopia Holoprosencephaly Hydrocephalus Lissencephaly Microcephaly Macrocephaly Periventricular leukomalacia Other: NEUROMUSCULAR Ataxia Chorea Hypotonia Hypertonia Spasticity Dystonia Muscle Weakness / Atrophy Exercise Intolerance Other CRANIOFACIAL (INCLUDING HEARING & VISION) Abnormal Eye Movement Abnormal Hearing Abnormal Vision Blindness Cataracts Cleft Lip/ Palate Coloboma (of eye) Chronic Progressive External Ophthalmoplegia Dysmorphic Features (describe) Ear Malformation Optic Atrophy Ptosis Retinitis Pigmentosa Other SKELETAL/LIMB ABNORMALITIES Club Foot / Feet Contractures Diaphragmatic Hernia Joint Hypermobility Kyphosis Limb Anomaly Pes Planus Polydactyly Pterygium Scoliosis Syndactyly Vertebral Anomaly SKIN, HAIR, AND NAILS Abnormal hair Abnormal nails: Abnormal pigmentation: Abnormal connective tissue: Blistering Ichthyosis Skin tumors/malignancies Other: HEMATOLOGIC AND IMMUNOLOGIC Anemia Coagulation disorder Immunodeficiency Neutropenia Pancytopenia Thrombocytopenia Other METABOLIC Abnormal CPK Elevated alanine Elevated puyruvate Ketosis Lactic Acidosis Organic Aciduria Other ENDOCRINE Diabetes Mellitus ( Type I; Type II) Hyperparathyroidism Hyperthyroidism Hypoparathyroidism Hypothyroidism Hypoglycemia Pheochromocytoma/paraganglioma Other GASTROINTESTINAL Chronic Constipation Chronic Diarrhea Chronic Intestinal Pseudoobstruction Elevated transaminases Gastroesophageal Reflux Gastroschisis/Omphalocele Hepatic failure Hirschsprung Disease Pyloric Stenosis Recurrent Vomiting Tracheoesophageal Fistula Other GENITOURINARY Ambiguous Genitalia Cryptochidism Hydronephrosis Hypospadias Kidney Malformation Renal Agenesis or Dysgenesis Renal Tubulopathy Other CARDIOVASCULAR Arrhythmia ASD Cardiomyopathy Coarctation of Aorta Tetralogy of Fallot Hypoplastic left heart Stroke VSD Other Neurocode Labs, Inc. Test Requisition Form External Payer v.2.0 page 3 of 5
4 Physician's Statement and Signature This test is medically necessary for the risk assessment, diagnosis or detection of a disease, illness, impairment, symptom, syndrome or disorder. The results could direct medical management and treatment decisions. By my signature below, I indicate that I am the referring physician and/or authorized health care provider. I have explained the purpose, possible results and limitations of the test described above. The patient and/or patient s legal guardian has been given the opportunity to ask questions and/or seek genetic counseling. The patient, or the patient s legal guardian, has given informed consent for the test described above to be performed. Ordering Physician's Signature: Date (YYYY-MM-DD): Patient Consent to Receipt of Secondary (incidental) Findings According to the current CCMG position statement (PMID: ), Neurocode Labs does not intentionally search for variants unrelated to the patient s primary indication. However, it is possible that during the analysis, variants associated with conditions other than those relevant to patient s presentation are incidentally identified. Such findings are termed as secondary findings or incidental findings. Incidental findings are only included if variants are interpreted as pathogenic or likely pathogenic and if the patient consented to the return of these secondary findings. I, the patient, or the patient s legal guardian, have had the implications and limitations of the requested genetic test, including the possibility of secondary findings, explained by the referring physician or health care provider and give informed consent to have the test, described above, performed. Check this box if you wish to receive CCMG secondary findings. Patient (Guardian) Signature: Date (YYYY-MM-DD): Neurocode Labs, Inc. Test Requisition Form External Payer v.2.0 page 4 of 5
5 Requisition Instructions Instructions for the proper completion of the test requisition can be found on our website at under the Test Requisition Form section. Shipping Instructions Samples should be shipped according to IATA, ICAO and TDG regulations. All samples should be transported at room temperature and shipped on the same day or as soon as possible after sample collection/processing. If possible, samples should be collected Monday to Wednesday to ensure delivery to our facility before the weekend. Sample handling/storage information prior to shipping: Blood - samples can be stored at 4 C (for no longer than 3-4 days) or at -20 C for longer periods. Oral rinse samples should be stored at 4 C until ready for transport. DNA - should be stored at -20 C until ready for transport. Packages should include: 1) labelled sample(s) (with subject s initials, PHN and sample collection date) 2) the corresponding completed test requisition. Please note: samples that do not meet the requirements listed at will be rejected. Incomplete test requisitions will result in testing delays, or possible sample rejection. Ship samples to the following address: Neurocode Labs, Inc. Attn: Dr. Matthew Farrer Room 5524, 2405 Wesbrook Mall Vancouver, BC Canada If you have any questions regarding sample collection/processing and shipping, please do not hesitate to contact us at info@neurocode.com. Neurocode Labs, Inc. Test Requisition Form External Payer v.2.0 page 5 of 5
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