GENETICS LABORATORY TEST REQUEST FORM Shodair Lab Number PATIENT INFORMATION SAMPLE INFORMATION
Total Page:16
File Type:pdf, Size:1020Kb
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 informed consent for the requested test. I confirm that this test is clinically Telephone:(_____)_________________ FAX:(_____)_________________ 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 (Marfan syndrome, Loyes-Dietz syndrome, etc.) MOLECULAR GENETIC TESTS Cardiac arrhythmia including Long QT syndrome Acceptable sample types: EDTA blood (purple top), cultured Noonan Syndrome 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 / short stature Agenesis of the corpus callosum Endrocrine Overgrowth Holoprosencephaly Diabetes mellitus Macrocephaly Lissencephaly Type I Microcephaly Cortical dysplasia Type II Physical/Cognitive Development Heterotopia Hypothyroidism Fine motor delay Hydrocephalus 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