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1 PATIENT INFORMATION (COMPLETE ONE FORM FOR EACH PERSON TESTED) Patient Last Name Patient First Name MI Date of Birth (MM / DD / YYYY) Address City State Zip Phone Patient discharged from Biological Sex: Accession # Hospital / Medical Record # the hospital/facility: Female Male Unknown Yes No Gender identity (if different from above): REPORTING RECIPIENTS Ordering Physician Institution Name (Required for International Clients) Phone Fax ADDITIONAL RECIPIENTS Name Fax Name Fax PAYMENT (FILL OUT ONE OF THE OPTIONS BELOW) SELF PAYMENT Pay With Sample Bill To Patient INSTITUTIONAL BILLING Institution Name Institution Code Institution Contact Name Institution Phone Institution Contact INSURANCE Do Not Perform Test Until Patient is Aware of Out-Of-Pocket Costs (excludes prenatal testing) REQUIRED ITEMS 1. Copy of the Front/Back of Insurance Card(s) 2. ICD10 Diagnosis Code(s) 3. Name of Ordering Physician 4. Insured Signature of Authorization Name of Insured Insured Date of Birth (MM / DD / YYYY) Name of Insured Insured Date of Birth (MM / DD / YYYY) Patient's Relationship to Insured Phone of Insured Patient's Relationship to Insured Phone of Insured Address of Insured Address of Insured City State Zip City State Zip Primary Insurance Co. Name Primary Insurance Co. Phone Secondary Insurance Co. Name Secondary Insurance Co. Phone Primary Member Policy # Primary Member Group # Secondary Member Policy # Secondary Member Group # By signing below, I hereby authorize Baylor tics to provide my insurance carrier any information necessary, including test results, for processing my insurance claim. I understand that I am responsible for any co-pay, co-insurance, and unmet deductible that the insurance policy dictates, as well as any amounts not paid by my insurance carrier for reasons including, but not limited to, non-covered and non-authorized services. I understand that I am responsible for sending Baylor tics any and all payments that I receive directly from my insurance company in payment for this test. Please note that Medicare does not cover routine screening tests. Patient's Printed Name Patient's Signature Date (MM / DD / YYYY) STATEMENT OF MEDICAL NECESSITY (REQUIRED) This test is medically necessary for the risk assessment, diagnosis, or detection of a disease, illness, impairment, symptom, syndrome, or disorder. The results will determine my patient s medical management and treatment decisions. The person listed as the Ordering Physician is authorized by law to order the test(s) requested herein. I confirm that I have provided genetic testing information to the patient and they have consented to genetic testing. Physician's Printed Name Physician's Signature Date (MM / DD / YYYY) 1 // 5
2 ETHNICITY African American Hispanic American Pacific Islander (Philippines, Micronesia, Malaysia, Indonesia) Ashkenazi Jewish Mennonite South Asian (India, Pakistan) East Asian (China, Japan, Korea) Middle Eastern (Saudi Arabia, Qatar, Iraq, Turkey) Southeast Asian (Vietnam, Cambodia, Thailand) Finnish Native American Southern European Caucasian (Spain, Italy, Greece) French Canadian Northern European Caucasian (Scandinavian, UK, Germany) Other (Specify): INDICATION FOR TESTING (REQUIRED) SAMPLE Symptomatic (Summarize below) Symptomatic with Family History SAMPLE TYPE Blood in EDTA-tube (purple-top) Liver Asymptomatic Blood in Heparin-tube (green-top) DNA Saliva Skeletal Muscle Population Screening Positive Family History Other (Specify) Tissue Disease Variant ICD10 Diagnosis Code(s): TESTING OPTIONS Targeted Sequencing for Known Familial Mutation (If selected, specify test code and gene below and complete section to the right) Full Sequencing Deletion/ Duplication Analysis NOTE: Extracted DNA/RNA will only be accepted if the isolation of nucleic acids for clinical testing occurs in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS. Blood should not be sent from patients who have had a bone marrow transplant or recent blood transfusion FOR TARGETED TESTING SELECTION ONLY Proband Last Name Date of Birth (MM/DD/YY) Proband testing location (Select one) Date of Collection (MM/DD/YY) Proband First Name Relationship of Proband to Patient Baylor tics Lab# Family# Another laboratory 1. Attach a copy of the Proband test results 2. A positive control sample of the Proband is requested. Please provide, if available. INHERITED EYE DISORDERS TESTS CYTOGENETIC TESTS TEST CODE TEST NAME SAMPLE TYPE* SPECIFY GENE OF INTEREST SPECIFY REGION OF INTEREST 8665 Chromosomal Microarray Analysis (CMA) - HR + SNP Screen (Comprehensive) BE + BH 8655 Chromosomal Microarray Analysis (CMA) - HR BE + BH MITOCHONDRIAL DNA (MTDNA) MUTATION SCREENS TEST CODE TEST NAME SAMPLE TYPE* 2010 Advanced mtdna Point Mutations and Deletions by Massively Parallel Sequencing (BCM-MitomeNGSSM) BE, SM, T 2055 Comprehensive mtdna Analysis by Massively Parallel Sequencing (BCM-MitomeNGSSM) BE, DNA, L SM, T * Refer to Sample Specifications Table (page 5) 2 // 5
3 FISH STUDIES MASSIVELY PARALLEL SEQUENCING (BCM-MITOMENGSSM) PANELS TEST CODE TEST NAME SAMPLE TYPE* TEST CODE TEST NAME SAMPLE TYPE* Albinism Panel (13 genes) BE, DNA 5255 Primary Open Angle Glaucoma Panel (MYOC, OPTN) BE, DNA 5260 Developmental Glaucoma Panel (8 genes) BE, DNA 2140 Progressive External Ophthalmoplegia Panel (10 genes) BE, DNA 5250 Familial Exudative Vitreoretinopathy Panel (FZD4, LRP5, NDP, and TSPAN12) BE, DNA 2190 Retinitis Pigmentosa + RPGR orf15 by NGS (66 genes) BE, DNA 5090 Leber Congential Amaurosis Panel (19 genes) BE, DNA 2195 Usher Syndrome Panel (9 genes) BE, DNA DNA COPY NUMBER ANALYSIS TEST CODE TEST NAME SAMPLE TYPE* SPECIFY GENE OF INTEREST 2000 MitoMet Plus acgh Analysis BE 2001 Oligonucleotide Targeted Array Analysis (Single Target ) BE 2003 Oligonucleotide Targeted Array Analysis (Up to 5 Target s) BE SINGLE GENE ANALYSIS If a test is not found on this form, please obtain the test code from our website ( and write in the below space(s) ABCA4 Comprehensive (Seq. & Del/Dup Analysis) ABCA4-Related Disorders BE 2924 BEST1 Comprehensive (Seq. & Del/Dup Analysis) BEST1-Related Disorders BE 2419 CEP290 Comprehensive (Seq. & Del/Dup Analysis) CEP290 CEP290-Related Disorders BE 6655 CDH23 Sequence Analysis CDH23-Related Disorders BE 6660 CLRN1 Sequence Analysis CLRN1-Related Disorders BE 7521 COL2A1 Comprehensive (Seq. & Del/Dup Analysis) COL2A1-Related Disorders BE 2389 CDHR1 Comprehensive (Seq. & Del/Dup Analysis) Cone-Rod Dystrophy 15 BE 2849 CRB1 Comprehensive (Seq. & Del/Dup Analysis) CRB1-Related Disorders BE 2954 CRX Comprehensive (Seq. & Del/Dup Analysis) CRX-Related Disorders BE CYP1B1 Sequence Analysis by NGS CYP1B1-Related Disorders BE, DNA TSPAN12 Sequence Analysis by NGS Exudative Vitreoretinopathy 5 BE, DNA FZD4 Sequence Analysis by NGS FZD4-Related Disorders BE, DNA 2439 GUCY2D Comprehensive (Seq. & Del/Dup Analysis) GUCY2D-Related Disorders BE 5280 OAT Sequence Analysis Gyrate Atrophy of Choroid and Retina BE 2789 IMPDH1 Comprehensive (Seq. & Del/Dup Analysis) IMPDH1-Related Disorders BE 2394 LCA5 Comprehensive (Seq. & Del/Dup Analysis) LCA5-Related Disorders BE * Refer to Sample Specifications Table (page 5) Contiued on next page 3 // 5
4 SINGLE GENE ANALYSIS CONTINUED 5084 CABP4 Comprehensive (Seq. & Del/Dup Analysis) Leber Congenital Amaurosis BE 5069 IQCB1 Comprehensive (Seq. & Del/Dup Analysis) Leber Congenital Amaurosis BE 6039 OCRL Sequence Analysis Lowe Syndrome BE 2839 LRAT Comprehensive (Seq. & Del/Dup Analysis) LRAT-Related Disorders BE LRP5 Sequence Analysis by NGS LRP5-Related Disorders BE, DNA 2409 MFRP Comprehensive (Seq. & Del/Dup Analysis) Microphththalmia, Isolated 5 Disorder BE NDP Sequence Analysis by NGS NDP-Related Disorders BE, DNA 6083 X-Linked, GPR143 Comprehensive (Seq. & Del/Dup Analysis) Oculocutaneous Albinism BE 3469 Type 1, OPA1 Comprehensive (Seq. & Del/Dup Analysis) Optic Atrophy BE 3529 Type 3, OPA3 Comprehensive (Seq. & Del/Dup Analysis) Optic Atrophy BE OPTN Sequence Analysis by NGS OPTN-Related Disorders BE, DNA PAX6 Sequence Analysis by NGS PAX6-Related Disorders BE, DNA PITX2 Sequence Analysis by NGS PITX2-Related Disorders BE, DNA PITX3 Sequence Analysis by NGS PITX3-Related Disorders BE, DNA 2414 ABHD12 Comprehensive (Seq. & Del/Dup Analysis) Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract Disorder BE MYOC Sequence Analysis by NGS Primary Open Angle Glaucoma 1A BE, DNA 2959 RDH12 Comprehensive (Seq. & Del/Dup Analysis) RDH12-Related Disorders BE 2964 C2orf71 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2764 CA4 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2944 CNGB1 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2969 DHDDS Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2974 EYS Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2994 FAM161A Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2769 FSCN2 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2454 IMPG2 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2984 MERTK Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2459 PDE6B Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2399 PROM1 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2799 PRPF31 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2939 PRPH2 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2479 RGR Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2474 RLBP1 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2814 ROM1 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2449 RP2 Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2359 RPGR Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2484 SAG Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE 2894 TOPORS Comprehensive (Seq. & Del/Dup Analysis) Retinitis Pigmentosa BE * Refer to Sample Specifications Table (page 5) Contiued on next page 4 // 5
5 SINGLE GENE ANALYSIS CONTINUED RS1 Sequence Analysis by NGS Retinoschisis BE, DNA 2934 RPE65 Comprehensive (Seq. & Del/Dup Analysis) RPE65-Related Disorders BE, DNA 2354 RPGRIP1 Comprehensive (Seq. & Del/Dup Analysis) RPGRIP1-Related Disorders BE, DNA 2899 PRKCG Comprehensive (Seq. & Del/Dup Analysis) Spinocerebellar Ataxia 14 (SCA) BE, DNA 6650 USH2A Sequence Analysis USH2A-Related Disorders BE, DNA 2379 Type 1C, USH1C Comprehensive (Seq. & Del/Dup Analysis) Usher Syndrome BE, DNA 2374 Type 1F, PCDH15 Comprehensive (Seq. & Del/Dup Analysis) Usher Syndrome BE, DNA 2369 Type 2C, GPR98 Comprehensive (Seq. & Del/Dup Analysis) Usher Syndrome BE, DNA 2364 Type 2D, DFNB31 Comprehensive (Seq. & Del/Dup Analysis) Usher Syndrome BE, DNA VSX1 Sequence Analysis VSX1-Related Disorders BE, DNA * Refer to Sample Specifications Table below SAMPLE SPECIFICATIONS TABLE ABBREVIATION BE BH SAMPLE NAME Blood in EDTA tube (purple-top) Blood in Sodium Heparin tube (green top) RECOMMENDED AMOUNT (2 YRS - ADULT) (NEWBORN - 2 YRS) 10 cc 2-3 cc 3-5 cc 1-2 cc DNA DNA, Extracted ug 1-2 cc L Liver mg 2-3 cc SA Saliva See Special Notes See Special Notes SM Skeletal Muscle 150 mg 150 mg T Tissue 50 mg 50 mg SHIPPING INSTRUCTIONS hip at room temperature in an insulated container by SPECIAL NOTES Minimal concentration of 50ng/uL; A260/A280 of ~1.7 Liver should be flash frozen in liquid nitrogen at collection with no media added and stored at -80 C. Collected with Oragene DNA Self-Collection Kit. Skeletal Muscle should be flash frozen in liquid nitrogen at collection with no media added, and stored at -80 C. Surgical pathology report required. If a pathology report is not available at this time, please send a clinical summary and the results of any pertinent ancillary testing. Tissue should be flash frozen in liquid nitrogen at collection with no media added, and stored at -80 C. 5 // 5
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