PATIENT INFORMATION (Please Print or Place ID Label) Last Name First Name MI

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1 Cytogenetics and Molecular Genetics Postnatal Genetic Test Requisition Form Laboratory Services Cytogenetics and Molecular Genetics Laboratory Tel: (614) / Fax: (614) PATIENT INFORMATION (Please Print or Place ID Label) Last Name First Name MI DOB Sex Male Female SSN Patient ID # / MRN Street Address City State Zip Phone Number Ethnicity (Check ALL that apply): Euro. Caucasian African American Hispanic Asian American Native American Ash. Jewish Other ORDERING PHYSICIAN INFORMATION (Please Print) Physician Name Phone Fax Street Address City State Zip Practice / Facility Name NPI # Physican Signature X ADDITIONAL REPORT TO (Please Print) Name Genetic Counselor Physician Other Name Genetic Counselor Physician Other SAMPLE INFORMATION (Please Print) Collection Date Collection Time : AM PM Specimen Type (Check ALL that apply): Peripheral Blood ( ml EDTA; ml NaHep) Cord Blood ( ml EDTA; ml NaHep) CLINICAL INFORMATION (Please Print) Indication for Testing Diagnostic Carrier Clinical Findings (Attach clinical notes if available) Phone Phone Collected by (Full Name) Date Tissue, Type DNA, Source & Conc. Is the Patient or Partner Currently Pregnant? No Yes (Gestational age: weeks days; EDC ) Fax Fax ICD-10 Codes Family History (Attach pedigree if available) No relevant family history Positive family history (Describe in space below) Affected Person s Name DOB Variant/Mutation Relationship to Patient Tested at Nationwide Children's Lab? No Yes: Accession# EDTA (lavender-top) ; NaHep = Sodium Heparin (green-top), DO NOT use Lithium Heparin (also green-top) ; Test Code Listed Within [ ] Page 1 of 9

2 CYTOGENETIC TEST REQUEST Chromosome Analysis, High Resolution Full Study (4mL NaHep) [PBCS] STAT Chromosome Report (verbal preliminary result in 2 business days, additional charges apply) [STATPB] Mosaicism Study (50 cells studied, beyond routine 20 cell study, to detect low-level mosaicism) Microarray Analysis with Reflex to Chromosome Analysis (4mL NaHep & 4mL EDTA) [SNPMA reflex to PBCS] Microarray Analysis ONLY (4mL NaHep & 4mL EDTA) [SNPMA] Parental Microarray Follow-up (4mL NaHep & 4mL EDTA) [PSNPMA] Proband Accession # FISH Study ONLY (4mL NaHep) [FISHON] Specify Probe/Locus MOLECULAR GENETIC TEST REQUEST Attach Informed Consent Form for Genetic Testing ALK-Related Neuroblastoma Susceptibility, ALK Targeted Gene Sequencing of Exons (4-8mL EDTA) [ALK] Angelman Syndrome Methylation Analysis (4-8mL EDTA) [PWSASMETHYL] If Methylation is Normal, Reflex to UBE3A Gene Sequencing [MOL63]? No Yes UBE3A Gene Sequencing ONLY (4-8mL EDTA) [UBE3A] Requires previous negative methylation result UPD15: Uniparental Disomy Analysis for Chromosome 15 (4-8mL EDTA from patient and both parents; sample from at least one parent required) [UNIDIS] Requires previous positive methylation and negative 15q11.2 deletion result Mother's Name Mother's DOB Father's Name Father's DOB BAP1 Tumor Predisposition Syndrome, BAP1 Gene Sequencing (4-8mL EDTA) [BAP1] Cardio-Facio-Cutaneous Syndrome, Gene Sequencing (4-8mL EDTA) BRAF [BRAF] MAP2K1 [MEK1] MAP2K2 [MEK2] KRAS [KRAS] Caveolinopathies, CAV3 Gene Sequencing (4-8mL EDTA) [CAV3] Includes: CAV3-rRelated Distal Myopathy; CAV3-Related Hypertrophic Cardiomyopathy; CAV3-Related Isolated HyperCKemia; CAV3- Related Rippling Muscle Disease; Limb-Girdle Muscular Dystrophy Type 1C CHARGE Syndrome, CHD7 Gene Sequencing (4-8mL EDTA) [CHD7] Congenital Muscular Dystrophy, Gene Sequencing (4-8mL EDTA) FKRP [FKRP] LAMA2 [MERGS] SEPN1 [SEPN1] LMNA [LAC] Costello Syndrome, Gene Sequencing (4-8mL EDTA) HRAS [HRAS] KRAS [KRAS] Cystic Fibrosis Common Mutation Panel (4-8mL EDTA) [CYSFIB] Provide the Ethnicity on Page 1 (required for proper risk estimation) Carrier Screen or Diagnostic Test If Diagnostic, is patient suspected of having CF? No Yes Family History of CF? No Yes: Relationship to Patient & Mutation(s) Dysferlinopathy, DYSF Gene Sequencing (4-8mL EDTA) [DYS] Includes: Limb-Girdle Muscular Dystrophy Type 2B; Miyoshi Distal Myopathy Dystrophinopathy, DMD Gene Sequencing (4-8mL EDTA) [DMDGS] Includes: Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, DMD-associated Cardiomyopathy; Dilated Cardiomyopathy 3B FBN1-Related Disorders, FBN1 Gene Sequencing (4-8mL EDTA) [FBN1SEQ] Includes: Marfan Syndrome; Familial Ectopia Lentis; MASS Syndrome; Weill-Marchesani Syndrome; Stiff Skin Syndrome; Geleophysic Dysplasia 2; Acromicric dysplasia FKRP-Related Muscle Diseases, FKRP Gene Sequencing (4-8mL EDTA) [FKRP] Includes: MDC1C; Limb-Girdle Muscular Dystrophy Type 2I; Walker-Warburg Syndrome Fragile X Syndrome Diagnostic Analysis, PCR & Methylation (4mL EDTA) [XFRAGB] Done at Outside Reference Laboratory Giant Axonal Neuropathy, GAN Gene Sequencing (4-8mL EDTA) [GAN] Page 2 of 9

3 EDTA (lavender-top) ; NaHep = Sodium Heparin (green-top), DO NOT use Lithium Heparin (also green-top) ; Test Code Listed Within [ ] MOLECULAR GENETIC TEST REQUEST (Continued) Attach Informed Consent Form for Genetic Testing Hearing Loss / Congenital Deafness (4-8 ml EDTA) Connexin 26 Gene Sequencing, reflex to Connexin 30 Deletion [CONN reflex to CONN30] SLC26A4 Gene Sequencing (Pendred Syndrome & DFNB4) [PEND] Kabuki Syndrome, Gene Sequencing (4-8 ml EDTA) KMT2D (MLL2) [KMT2DGS] Krabbe Disease (4-8 ml EDTA) Tier 1: GALC Gene Common 30-kb Deletion Detection by PCR [KDGALCCD] GALC Gene Sequencing [KDGALCSEQ] Tier 2: GALC Gene Comprehensive Del/Dup Analysis by MLPA [KDGALCDD] Tier 3: PSAP Gene Sequencing [KDPSAPSEQ] Li-Fraumeni Syndrome, TP53 Gene Sequencing (4-8mL EDTA) [TP53GS] Marfan Syndrome, FBN1 Gene Sequencing (4-8mL EDTA) [FBN1SEQ] LAMA2-Related Muscular Dystrophy, LAMA2 Gene Sequencing (4-8mL EDTA) [MERGS] Includes: Congenital Muscular Dystrophy (LAMA2-Related); Merosin-Deficient Congenital Muscular Dystrophy Type 1A, Early-Onset LAMA2 Deficiency; Late-Onset LAMA2 Deficiency LMNA-Related Disorders, LMNA Gene Sequencing (4-8mL EDTA) [LAC] Includes: Congenital Muscular Dystrophy (LMNA-Related); Limb-Girdle Muscular Dystrophy Type 1B; Dilated Cardiomyopathy 1A; LMNA- Related Emery-Dreifuss Muscular Dystrophy; Charcot-Marie-Tooth Neuropathy Type 2B1; Hutchinson-Gilford Progeria Syndrome Limb Girdle Muscular Dystrophy Type 1 (Dominant), Gene Sequencing (4-8mL EDTA) LGMD1A: MYOT (Myotilin) [MYO] LGMD1B: LMNA (Lamin-A/C) [LAC] LGMD1C: CAV3(Caveolin-3) [CAV3] LGMD1E: DNAJB6 [DNAJB6] Limb Girdle Muscular Dystrophy Type 2 (Recessive), Gene Sequencing (4-8mL EDTA) LGMD2A: CAPN3 (Calpain-3) [CAL] LGMD2B: DYSF (Dysferlin) [DYS] LGMD2C: SGCG (Gamma-Sarcoglycan) [GSG] LGMD2D: SGCA (Alpha-Sarcoglycan) [ASG] LGMD2E: SGCB (Beta-Sarcoglycan) [BSG] LGMD2F: SGCD (Delta-Sarcoglycan) [DSG] LGMD2I: FKRP (Fukutin-Related Protein) [FKRP] LGMD2L: ANO5 (Anoctamin-5) [ANO5] Myotilinopathy, MYOT Gene Sequencing (4-8mL EDTA) [MYO] Includes: Myofibrillar Myopathy; Myotilin-Related Myopathy; Limb-Girdle Muscular Dystrophy Type 1A Noonan Syndrome and Related Disorders, Single Gene Sanger Sequencing (4-8mL EDTA) PTPN11 [NTI] SOS1 [SOS1] RAF1 [RAF1] KRAS [KRAS] NRAS [NRAS] SHOC2 [SHOC2] BRAF [BMPR] MAP2K1[MEK1] MAP2K2 [MEK2] HRAS [HRAS] *For NGS Gene Panel for Noonan Spectrum Disorders (RASopathies), see the NGS TEST REQUEST section below NOTCH1 Gene Sequencing (4-8mL EDTA) [NOTCH1T1] Includes Left Ventricular Outflow Tract Obstruction/Aortic Valve Disease; Adams-Oliver syndrome 5 POLG-Related Disorders, POLG Gene Sequencing (4-8mL EDTA) [POLGSEQ] Includes: Alpers-Huttenlocher Syndrome; Childhood Myocerebro-Hepatopathy Spectrum (MCHS); Myoclonic Epilepsy; Myopathy and Sensory Ataxia (MEMSA spectrum); Ataxia Neuropathy Spectrum (ANS); Autosomal Recessive Progressive External Ophthalmoplegia (arpeo); Autosomal Dominant Progressive External Ophthalmoplegia (adpeo); Valproic Acid (VPA) Induced Liver Failure Prader-Willi Syndrome Methylation Analysis (4-8mL EDTA) [PWSASMETHYL] UPD15: Uniparental Disomy Analysis for Chromosome 15 (4-8mL EDTA from proband and both parents; sample from at least one parent required) [UNIDIS] Requires previous positive methylation and negative 15q11.2 deletion result Mother's Name Mother's DOB Father's Name Father's DOB SCAD Polymorphism Sequence Analysis, Exons 5 and 6 Only (4mL EDTA) [SCAD] Page 3 of 9

4 Laboratory Services EDTA (lavender-top) ; NaHep = Sodium Heparin (green-top), DO NOT use Lithium Heparin (also green-top) ; Test Code Listed Within [ ] MOLECULAR GENETIC TEST REQUEST (Continued) Attach Informed Consent Form for Genetic Testing SEPN1-Related Myopathy, SEPN1 Gene Sequencing (4-8mL EDTA) [SEPN1] Includes: Congenital Muscular Dystrophy with Early Spine Rigidity; Rigid Spine Syndrome; SEPN1-Related Multiminicore Disease Thrombophilia Testing (4-8mL EDTA) Factor II Mutation Analysis (Prothrombin G20210A ) [F52MUT] Factor V Leiden Mutation Analysis [F52MUT] MTHFR Polymorphism Analysis (A1298C & C677T) [MTHFR] Antithrombin III Deficiency, SERPINC1 (AT3) Gene Sequencing [SERPGS] UPD15: Uniparental Disomy Analysis for Chromosome 15 (4-8mL EDTA from proband and both parents; sample from at least one parent required) [UNIDIS] Mother's Name Mother's DOB Father's Name Father's DOB Reason for Study (REQUIRED): Y Chromosome Microdeletion Testing for Male Infertility (4mL EDTA) [YMICROD] NGS (NEXT-GENERATION SEQUENCING) TEST REQUEST *Required: Attach Completed Informed Consent Form for NGS-Based Testing NGS Noonan Spectrum Disorders Panel (NGS RASopathy Panel) (4-8 ml EDTA) [NGSRP] 14 Genes: PTPN11, SOS1, RAF1, KRAS, NRAS, SHOC2, BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), HRAS, RIT1, CBL, NF1, SPRED1 Includes: Noonan Syndrome; Costello Syndrome; LEOPARD Syndrome; Cardio-Facio-Cutaneous (CFC) Syndrome; Noonan Syndrome-Like Disorder with/without Juvenile Myelomonocytic Leukemia; Neurofibromatosis-Noonan Syndrome; Legius Syndrome NGS Periodic Fever Syndromes Panel (4-8 ml EDTA) [NGSPFS] 8 Genes: MEFV, TNFRSF1A, MVK, NLRP3, NLRP12, ELANE, PSTPIP1, and LPIN2 Includes: Familial Mediterranean Fever; Familial Hibernian Fever; TNF-Receptor-Associated Periodic (TRAP) Syndrome; Mevalonate Kinase Deficiency; Hyper-IgD Syndrome; Mevalonic Aciduria; Chronic Neurologic Cutaneous and Articular Syndrome; Neonatal-onset Multisystem Inflammatory Disease; Cryopyrin-associated Periodic Syndrome 3; Familial Cold-induced Inflammatory Syndrome 1; Muckle-Wells Syndrome; Familial Cold Autoinflammatory Syndrome 2; Cyclic Neutropenia; Autosomal Dominant Severe Congenital Neutropenia 1; Pyrogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne; Majeed Syndrome Other Notes / Special Instructions: Page 4 of 9

5 BILLING INFORMATION Insurance bill option is only available for patients/insurance companies within the state of Ohio. For insurance bill, please attach the front and back copy of the insurance card. For out-of-ohio patients/insurance companies, we accept institutional bill. We DO NOT insurance bill for patients/insurance companies outside of Ohio. We DO NOT offer Self Pay option at this time. Pre-payment is required for samples referred from outside the U.S. or Canada. Please contact ChildLab Client Services for more information at INSTITUTIONAL BILL (Please Print) Contact Name Phone Fax Institution / Hospital / Lab Name Street Address City State Zip OHIO INSURANCE BILL (Please Print) Option Only for Ohio Patients/Insurances Please Attach Copy of Insurance Card Legal Guardian Last Name Legal Guardian First Name, MI Legal Guardian DOB Legal Guardian SSN Relationship to Patient Self Spouse Parent Other Subscriber Last Name Subscriber First Name, MI Subscriber DOB Subscriber SSN Employer Insurance Co. Name Policy # Group # Address City, State Zip Secondary Insurance Co. Name PATIENT CONSENT For Insurance-Bill I will fully abide with ChildLab by providing all necessary documents needed for insurance billing and appeals. I understand that I am responsible for the payment of this test whether through my insurance company or myself. Patient Signature: X Page 5 of 9

6 Cytogenetics and Molecular Genetics Laboratory Tel: (614) / Fax: (614) INFORMED CONSENT FOR NEXT-GENERATION SEQUENCING-BASED TESTING Patient Name: DOB: MRN: Clinical Diagnosis or Reason for Study: Panel Test to Be Performed: Your (or your child s) healthcare provider has suggested genetic testing as part of a medical evaluation. This consent form is to give you information about the test. If you agree to have the test, you will be asked to sign at the end of this form to show that you understand the information. It is your choice to take part in the test. A copy of this consent will be given to you for your records. Please place your initials in the blank next to each statement. This shows that you have read and understand the information, and have had your questions answered by the healthcare provider. I understand the following information about the reason for the test and how it is done: A blood sample is being taken from me (or my child) to get DNA (genetic material). The DNA will be tested to find out if I (or my child) have a change (variant) in the DNA sequence that is related to the suspected genetic disorder listed above. The testing to be done uses a method called next-generation sequencing. This allows the laboratory to look at many genes all at the same time. The sequence data from the test include a large number of genes. However, the laboratory analysis and final report will be limited to the genes currently known to be associated with the suspected genetic disorder. You can get a list of the specific genes from your healthcare provider. I understand the following information about the test results: The results of this test will be reported only to the following: the healthcare provider who referred you a professional such as another physician or a genetic counselor named by the referring provider All results are confidential and will be reported to others only with your written consent, unless otherwise required by law. This test may have different kinds of results, including: Negative (or normal ) No variant (or change) in the DNA was found within the limits of the testing. A negative result may not completely rule out a diagnosis or condition. More testing (if needed) may be suggested. Pathogenic A variant was found in my (or my child's) DNA that is known to cause a certain diagnosis or condition. The variant has been reported before and is well described. Likely Pathogenic A variant was found in my (or my child's) DNA that may be linked to a certain diagnosis or condition. The variant may not be well known, but many biological factors suggest that it may cause a certain disorder. Variant of Uncertain Significance (VUS) A variant was found in my (or my child's) DNA. It is not known whether it causes medical problems. Everyone's DNA is different. Every person has changes in his or her DNA; not all of these changes cause medical problems. Review of the variant, medical research, reports, and databases may suggest whether a variant is more likely to be disease-causing or not. Testing of the parents may be recommended to help to decide the significance. In some cases the significance remains unclear. LA-107 Consent for NGS-based Panel Testing DRAFT 6/17/15 Page 6 of 9

7 Laboratory Services Likely Benign A variant was found in my (or my child's) DNA. The medical literature and electronic databases suggest that this may be a variant present in the general population and is not part of the suspected disorder. Benign The variant(s) found in my (or my child's) DNA is found often in the general population. It does not cause specific conditions. Known, benign variants may not be listed on the laboratory report. Genetic test results may impact family members. Based on the results, testing may be recommended to other family members. The results of this genetic test may or may not impact my (or my child's) medical management. My (or my child's) healthcare provider s recommendations for medical management may change according to the test findings. I understand the following information about the accuracy and limitations of testing: Correct test results depend on the way the test is done in the lab the medical information that I give about myself (or my child) the medical history of family members biological relationships in my family Errors in the medical information about me (my child) or family members may lead to wrong results. As with all complex testing, there is always a chance of error or test failure. Sometimes, the test will detect a change, called a variant, in one of the target genes. In other cases the test will not be able to identify a variant. This may be due to a true negative result, a current lack of knowledge of all genes involved in the disorder, or an inability of the current technology to identify certain types of variants in a gene. Finally, non-paternity may be found in some family-based studies. This result may be reported to the referring provider. I understand the following information about the use of specimens and data for research: Additional Studies within Nationwide Children's Hospital An unused part of my (or my child s) DNA sample will be kept by the clinical laboratory and will be clearly identified. It may be made available for more testing as ordered by a healthcare provider. I will not consider this as a banking service. The laboratory will not be responsible for keeping the sample available in the future. The DNA sequence data will also be made available if a re-analysis is ordered by a healthcare provider. The DNA sample, clinical information, and associated DNA sequence data may also be kept in a database at Nationwide Children s Hospital and used for test validation or for research (with privacy assured). No compensation will be given for any tests or products that result from research and development using these specimens. I may refuse to submit my (or my child s) specimen for use in this way. I may withdraw consent for the storage of the sample and/or use of the data by calling the laboratory at and speaking with a genetic counselor. Refusal to consent to medical research will not affect my (or my child s) results or medical care. Please show consent or denial below. I give the following permission for research use of the unused portion of my (or my child s) sample or the associated DNA sequence data (please choose ONE): [Please note: if no option is marked, the first option will apply and consent to research will be implied.] Can be used for research purposes including studies designed to investigate the cause of my (or my child s) condition without removing the identifying information on the sample. Results, at the discretion of the laboratory, may be communicated through the referring healthcare provider. Can be used for research purposes only after the identifying information is removed from the sample. I understand that I will not be given any results from the testing, because the sample will be anonymous. Cannot be used for research purposes. LA-107 Consent for NGS-based Panel Testing DRAFT 6/17/15 Page 7 of 9

8 De-identified Public Data Sharing Clinical information and test results may be de-identified and recorded in a HIPAA-compliant public database. This is part of an effort to improve diagnostic testing and help us understand how genetic changes relate to clinical symptoms. Patients may withdraw consent for additional data sharing by calling the laboratory at and speaking with a genetic counselor. I do not want my (or my child's) results included in the data-sharing efforts described above. (If the box is not checked, data will be used. I understand the following information about genetic discrimination: There are federal laws in place that prevent health insurers and employers from discriminating based on genetic information [for example, the Genetic Information Nondiscrimination Act (GINA) of 2008 (Public Law ). There are currently no federal laws that prohibit life insurance, long term care, or disability insurance companies from discriminating based on genetic information. States may have different laws in this area. You can get more information from the Genetics Public & Policy Center s website (at The results of genetic testing are considered Protected Health Information (PHI) as described in the Health Insurance Portability and Accountability Act (HIPAA) of 1996 (Public Law ). Release of test results is limited to authorized personnel (such as the ordering healthcare provider) and to other parties as required by law. I understand the following information about my financial responsibility: The estimated cost of testing, the billing process, and the option of insurance preauthorization have been explained to me by my healthcare provider. Some insurance companies/plans provide coverage for genetic testing and others do not. Signature of Patient/Parent: I have read or have had read to me all of the above statements and understand the information about this genetic test. I have had the chance to ask questions I might have about the testing, the procedure, the risks, and the alternatives before my informed consent. I consent to take part (or have my child take part) in genetic testing for the above condition. Signature: Date/Time: Printed Name: Patient Name: Patient DOB: Relationship to Patient: Signature of Ordering Provider: I have explained the testing, limitations, consent, and implications to the patient/parent and accept responsibility for ensuring that appropriate genetic counseling has been provided. Date/Time: A copy of the signed consent should be provided to thepatient/parent/guardian LA-107 Consent for NGS-based Panel Testing DRAFT 6/17/15 Page 8 of 9

9 Information on Obtaining Insurance Coverage Determination and Prior Authorization It is strongly recommended that insurance prior authorization be obtained before a genetic test is ordered / before a patient sample is collected for a genetic test. **Please note, even if the patient's insurance covers the test, the patient may still have to pay a co-insurance, co-pay or meet a deductible (if required by patient's insurance plan). Prior authorizaton is not a guarantee of payment. If an insurance company indicates that Prior Authorization /Pre-determination Not Required, this does not necessarily mean the testing is a covered benefit. Please also note thatssome insurance plans do not cover genetic testing at all. Steps to obtain insurance preauthorization: 1. Call the Customer Service number listed on the back of patient's insurance card. 2. Choose the option for "Prior Authorization" or to speak with a representative. 3. Inform the representative you are calling to determine whether genetic test is a covered benefit under the patient's insurance plan. 4. The insurance company will ask for the CPT code(s) and possibly the ICD code(s). This information is provided below. 5. If the insurance company requests a letter of medical necessity, then ordering healthcare provider is responsible for providing the letter to the insurance to obtain preauthorization. 6. Document whether or not the testing is approved and document the "Prior Authorization#" if testing is approved. If the test is denied, then the heatlhcare provider may request the insurance company for an appeals process. Estimated Cost of the Test: $ TESTING SUPPORT INFORMATION Laboratory Name: Nationwide Children s Hospital NPI#: Tax ID#: Laboratory Address: 700 Children s Drive City: Columbus State: Ohio Zip: Ordering Provider Name: Phone #: Fax #: If Applicable, Genetic Counselor Name: Phone #: Test Name(s): Test CPT Codes (provides information on the test being ordered): ICD-10 Codes (describes child s medical conditions that warrant the test to be ordered): Medical Necessity Statement: PLEASE RECORD THE FOLLOWING INFORMATION Insurance Company Name: Phone #: Insurance Rep Name and/or Call Reference #: Date of Call: Is the Test a Covered Benefit? Yes No Is Prior Authorization Required for the Test? Yes; prior authorization #: No; no prior authorizatoin required for the test Is a Letter of Medical Necessity Required? Yes No LA-107 Consent for NGS-based Panel Testing DRAFT 6/17/15 Page 9 of 9