Shodair Children’s Hospital Genetics Laboratory 2755 Colonial Dr, Helena. MT, 59601 Phone (406) 444-7532 Toll Free (800) 447-6614 Fax (406) 444-1022 email: [email protected] GENETICS LABORATORY TEST REQUEST FORM Shodair Lab Number PATIENT INFORMATION SAMPLE INFORMATION

 Whole Blood ( ≥3mL) ______ Direct Amniotic Fluid Date of Collection______Last Name  Cultured Amniocytes (2-T25) Reference #______MI ______ Direct CVS  Cultured CVS (2-T25) First Name select all that apply Ethnicity  Saliva/Buccal Cells ______/ ______/ ______ Caucasian  Extracted DNA (≥10ug) Source:______Date of Birth  Asian  Fresh/Frozen Tissue Source:______ Hispanic Sex:  African American ADDITIONAL FAMILY SAMPLES (EDTA blood/saliva)  □ Female □ Male Ashkenazi Jewish Relationship:______Relationship:______ Hutterite  American Indian Name:______Name:______ORDERING HEALTH CARE PROFESSIONAL DOB:______Ref #:______DOB:______Ref #:______Date Collected: ______Date Collected: ______Name: ______NPI #: ______Affected: □ Yes □ No Affected: □ Yes □ No Address: ______AUTHORIZATION City, State, Zip: ______By submitting this requisition, I confirm that I have obtained the patient’s Telephone:(_____)______FAX:(_____)______informed consent for the requested test. I confirm that this test is clinically valuable for the patient. Referring Facility:______Additional Reports To: ______Signature of ordering provider Date INSTITUTIONAL BILLING

Institution: ______Billing Contact: ______Address: ______Phone #: ______City, State, Zip: ______Fax #: ______MEDICAID / MEDICARE Name of policy holder: ______Passport ID: ______Policy holder DOB: ______Phone #: ______Address: ______MEDICAID / MEDICARE #: ______City, State, Zip: ______INSURANCE BILLING SELF PAY

Name of policy holder: ______Name of responsible party: ______Policy holder DOB: ______Relationship to patient: ______Phone: ______Patient Relation to Policy Holder: ______Please call the Financial Assistance Coordinator at (406)444-7507 to arrange payment options SS # (Guarantor): ______Address: ______PREAUTHORIZATION ASSISTANCE* City, State, Zip: ______ YES *CLINICAL INFORMATION REQUIRED Phone #: ______ NO Successful preauthorization requires complete clinical information. Ins. Co. Policy #: ______Please designate a contact for preauthorization updates: Name of Ins. Co ______Name:______Ins. Co Phone: ______Phone or email: ______

SHODAIR INTERNAL USE ONLY Med Rec # Date Received Tracking # Sender Initials

GENETICS LAB REV. D 10-2018 Page 1 of 3 Shodair Children’s Hospital Genetics Laboratory 2755 Colonial Dr, Helena. MT, 59601 Phone (406) 444-7532 Toll Free (800) 447-6614 Fax (406) 444-1022 email: [email protected] GENETICS TEST REQUEST FORM Shodair Lab Number Patient Name: ______DOB: ______

REASON FOR TESTING, CLINICAL DIAGNOSIS AND ICD-10 CODES PLEASE INCLUDE SECOND PAGE OF CLINICAL INDICATIONS AND/OR ADDITIONAL CLINICAL INFORMATION, MEDICAL RECORDS, PICTURES, FAMILY HISTORY TO AID IN RESULT INTERPRETATION.  Diagnostic Clinical Description: Phenotypic Description: ICD-10 Codes (required): Prenatal Information:  Prenatal LMP:______Gestational Age:______ Carrier Screening G_____P_____Ab_____  Family History  No Family History Fetal Sex (if known):______CYTOGENETIC TESTS CHROMOSOMAL MICROARRAY (CMA) Acceptable sample types: Sodium heparin blood (green top, Acceptable sample types: EDTA blood (purple top), cultured cells, NOT LITHIUM HEPARIN), direct amniotic fluid, CVS, cultured fresh/frozen tissue—call 406-444-7532 with questions. cells, fresh (unfixed) tissue—call 406-444-7532 with questions.  Chromosomal Microarray  Chromosomes (Karyotype) NEXT-GENERATION SEQUENCING (NGS)  FISH (select at least one of options below)  Direct Interphase Aneuploidy (AneuVysion) Acceptable sample types: EDTA blood (purple top), cultured cells,  Other ______fresh/frozen tissue —call 406-444-7532 with questions.

For POC/CVS samples, cytogenetic studies cannot determine with certainty that a normal female result is not due to maternal cell con- Gene Panels: tamination. We strongly recommend sending a maternal blood sample  Developmental delay, Intellectual disability, Autism (3-5mL EDTA) to rule out maternal cell contamination. This maternal  Epilepsy sample will be discarded in the event of an abnormal or male result.  Neuromuscular  Decline Maternal Cell Contamination Studies  Charcot-Marie-Tooth  Aortopathy (, Loyes-Dietz syndrome, etc.) MOLECULAR GENETIC TESTS  Cardiac arrhythmia including Long QT syndrome Acceptable sample types: EDTA blood (purple top), cultured  cells, fresh/frozen tissue—call 406-444-7532 with questions.  Hearing Loss  Order by Clinical Indication:  Angelman/Prader-Willi (AS/PWS) Methylation

 Beckwith-Wiedemann Syndrome (BWS)  Specify Gene(s):  KCNQ1OT1 & H19 Methylation  Reflex to UPD11 if positive (parent samples required)  Fragile X Syndrome (FMR-1) KNOWN FAMILIAL VARIANT STUDIES  Hemochromatosis (HFE) Mutations (C282Y / H63D)  Huntington Disease (HTT) Mutation Acceptable sample types: EDTA blood (purple top), cultured cells,  Maternal Cell Contamination (recommended for CVS) fresh/frozen tissue—call 406-444-7532 with questions.  Myotonic Dystrophy  Russell-Silver Syndrome (RSS)  Copy Number Analysis  H19 Methylation  Sequence Variant  UPD7 (parent samples required)  Spinal Muscular Atrophy (SMA) Proband Name______ Thrombophilia Gene Polymorphism Panel Relationship to Proband______ Factor V Leiden  Prothrombin  MTHFR  X-Chromosome Inactivation Variant Description______ Uniparental Disomy Screen (parent samples required) If proband studies were not performed at Shodair, please include Select Chromosome(s) 2, 6, 7, 8, 9, 11, 13, 14, 15, 16, 20, 21 a copy of the proband report Specific Test Instructions (Reflex testing, STAT, etc.)

GENETICS LAB REV. D 10-2018 Page 2 of 3 Shodair Children’s Hospital Genetics Laboratory 2755 Colonial Dr, Helena. MT, 59601 Phone (406) 444-7532 Toll Free (800) 447-6614 Fax (406) 444-1022 email: [email protected]

GENETICS TEST REQUEST FORM Shodair Lab Number Patient Name: ______DOB: ______

CLINICAL INDICATIONS Perinatal history Skin, Hair, & Nail Abnormalities Genitourinary abnormalities (Please check all the apply)  Abnormal nails ______ Ambiguous genitalia  Prematurity  Abnormal pigmentation ______ Hypospadias  Intrauterine growth retardation  Abnormal connective tissue ______ Hydronephrosis  Oligohydramnios  Blistering  Undescended testis  Polyhydramnios  Ichthyosis  Kidney malformation  Cystic hygroma / increased NT  Skin tumors/Malignancies  Renal agenesis Growth  Other: ______ Renal tubulopathy  Failure to thrive Brain Malformations/abnormal imaging  Other: ______ Growth retardation /  Agenesis of the corpus callosum Endrocrine  Overgrowth   Diabetes mellitus   Type I   Cortical dysplasia  Type II Physical/Cognitive Development  Heterotopia  Hypothyroidism  Fine motor delay   Hypoparathyroidism  Gross motor delay  Brain atrophy  Pheochromocytoma/paraganglioma  Speech delay  Periventricular leukomalacia Metabolic  Intellectual disability  Hemimegalencephaly  Ketosis  Learning disability  Abnormalities of basal ganglia  Lactic academia/high CSF lactate  Developmental regression  Other: ______ Elevated pyruvate Behavioral Neurological/Muscular  Elevated alanine  Autism spectrum disorder  Ataxia  Organic aciduria  Autistic features  Chorea  Low plasma carnitine  Obsessive-compulsive disorder  Dystonia  CPK abnormalities  Stereotypic behaviors  Hypotonia Hemotologic/Immunologic  Other psychiatric symptoms  Hypertonia  Recurrent fever Craniofacial/Ophthalmalogic/Auditory  Seizures (type: ______)  Anemia/neutropenia/pancytopenia  Cataracts  Spasticity  Immunodeficiency Type: ______ Cleft lip/palate  Exercise intolerance/easy fatigue  Other: ______ Coloboma of eye  Muscle weakness  CPEO (opthalmoplegia)  Stroke/stroke-like episodes  Ptosis  Recurrent headache/migraine  Blindness Gastrointestinal  Optic atrophy  Gastroschisis/omphalocele  Retinitis pigmentosis  Pyloric stenosis  Hearing loss  Tracheoesophageal fistula  Ototoxicity (aminoglycoside-induced)  Delayed gastric emptying  External ear malformation  Eosinophilic esophagitis  Facial dysmorphism  Gastrointestinal reflux Describe: ______ Recurrent vomiting Cardiac/congenital heart malformations  Chronic diarrhea  ASD  Constipation  VSD  Chronic intestinal pseudo-obstruction  Coactation of aorta  Hirschsprung disease  Hypoplastic left heart  Hepatic failure  Tetralogy of Fallot  Elevated transaminases  Cardiomyopathy Skeletal/Limb abnormalities  Arrhythmia/conduction defect  Contractures  Other: ______ Club foot  Polydactyly  Syndactyly  Scoliosis  Vertebral anomaly  Other: ______

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