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DIAGNOSTIC GENETIC TESTING REQUISITION SPECIMENS: 1428 Madison Ave., Rm AB2-25, New York, NY 10029 MAIL: One Gustave L

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DIAGNOSTIC GENETIC TESTING REQUISITION SPECIMENS: 1428 Madison Ave., Rm AB2-25, New York, NY 10029 MAIL: One Gustave L DIAGNOSTIC GENETIC TESTING REQUISITION SPECIMENS: 1428 Madison Ave., Rm AB2-25, New York, NY 10029 MAIL: One Gustave L. Levy Place, Box 1497, New York, NY 10029-6574 Phone: 800-298-6470 / Fax: 646-859-6870 Tax ID# 47-5349024/ CLIA# 33D2097541 ACCESSION NO. DATE / / PATIENT INFORMATION ORDERING PROVIDER INFORMATION PATIENT LAST NAME PATIENT FIRST NAME DOB BIOLOGICAL GENDER ETHNICITY / / M F TELEPHONE EMAIL ADDRESS CITY/STATE/ZIP BIOLOGICAL MOTHER LAST NAME BIOLOGICAL FATHER LAST NAME PROVIDER SIGNATURE OF CONSENT (REQUIRED): I certify that this patient (and/or their legal guardian, as necessary) has been informed of the benefits, risks, and limitations of the laboratory test(s) requested. I have answered this person’s questions. I have obtained a signed informed BIOLOGICAL MOTHER FIRST NAME BIOLOGICAL FATHER FIRST NAME consent from this patient or their legal guardian for this testing in accordance with applicable laws and regulations, including N.Y. Civil Rights Law Section 79-L, and will retain this consent in the patient’s medical record. SIGNATURE DATE / / BIOLOGICAL MOTHER DATE OF BIRTH BIOLOGICAL FATHER DATE OF BIRTH (PLEASE FILL OUT ADDITIONAL INDICATIONS ON BACK) / / CLINICAL INDICATION / / SPECIMEN TYPE: Patient: Peripheral Blood Saliva Other: Date of Collection:____/____/____ BILLING INFORMATION Bill Clinic Bill Insurance Below Self Pay Biological mother: Peripheral Blood Saliva Other: Date of Collection:____/____/____ POLICYHOLDER LAST NAME POLICYHOLDER FIRST NAME POLICYHOLDER DOB Biological father: Peripheral Blood Saliva Other: Date of Collection:____/____/____ / / Parental samples will be used as needed in follow-up to patient testing INSURANCE CARRIER INSURANCE ID GROUP NO. Please submit separate signed general consent form for each sample submitted (including parents) For all prenatal specimens: please use Prenatal Requisition with supplemental Phenotype forms completed BILLING ADDRESS PATIENT CLINICAL STATUS PURPOSE OF STUDY Affected Diagnostic Carrier Testing Unknown (no screening/evaluation) Research Study Clinical Study OTHER HEALTH COVERAGE (IDENTIFY) Unaffected (all screening/evaluations(s) normal) Familial Follow-up (family variant)____________________________ Other___________________________________ SELF-PAY: Credit Card Check *PLEASE COMPLETE ALL CLINICAL QUESTIONS ON THE BACK PAGES* Make Checks Payable to: Mount Sinai Genomics Inc., P.O. Box 21312, New York, NY 10087-1312 ASSIGNMENT AND RELEASE: I hereby authorize my insurance benefits be paid directly to the provider and I understand that I am financially responsible for uncovered services. I also authorize the release of any information required to process the claim. Billing inquiries, please call 800-298-6570, Option 3. SIGNATURE DATE / / LABORATORY TEST(S) ORDERED (SEE FOLLOWING PAGES FOR GENE LISTS) HEARING AND VISION LOSS CARDIOVASCULAR IMMUNODEFICIENCY COMPREHENSIVE HEARING AND VISION LOSS PANEL (308 genes) includes COMPREHENSIVE CARDIOVASCULAR PANEL (240 genes) includes subpanels listed COMPREHENSIVE IMMUNODEFICIENCY PANEL (250 genes) includes subpanels subpanels listed below. below listed below COMPREHENSIVE VISION LOSS PANEL (250 genes) includes subpanels listed COMPREHENSIVE ARRHYTHMIAS PANEL (54 genes) includes subpanels below PRIMARY IMMUNODEFICIENCY PANEL (206 GENES) below. ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC) INFLAMMATORY BOWEL DISEASE PANEL (59 GENES) ALBINISM, HERMANSKY-PUDLAK SYNDROME, & WAARDENBURG subpanel (8 genes) SEVERE COMBINED IMMUNODEFICIENCY PANEL (26 GENES) SYNDROME PANEL (18 genes) BRUGADA SYNDROME (20 genes) Add on ULTRA-HIGH RESOLUTION IMMUNODEFICIENCY DEL/DUP ARRAY if panel is DEVELOPMENTAL EYE PANEL (21 genes) CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT) negative or inconclusive RETINAL DISEASE PANEL (154 genes) subpanel (8 genes) Run simultaneous to panel STICKLER & CATARACT PANEL (41 genes) LONG/SHORT QT SYNDROME (LSQT) subpanel (19 genes) METABOLIC COMPREHENSIVE HEARING LOSS PANEL (92 genes) includes subpanels listed COMPREHENSIVE CARDIOMYOPATHY PANEL (190 genes), includes subpanels PORPHYRIA below below and Comprehensive arrhythmias panel Acute Porphyria Panel (AIP, HCP & VP) BRANCHIO-OTO-RENAL SYNDROME PANEL (3 genes) DILATED CARDIOMYOPATHY (57 genes) ACUTE INTERMITTENT PORPHYRIA (AIP) CONNEXIN 26 / CONNEXIN 30 DEL / DUP HEARING LOSS PANEL (GJB2/ HYPERTROPHIC CARDIOMYOPATHY (HCM) (40 genes) HEREDITARY COPROPORPHYRIA (HCP) GJB6) LEFT VENTRICULAR NON-COMPACTION PANEL (LVNC) (20 genes) VARIEGATE PORPHYRIA (VP) OTOANCORIN NGS AND DEL / DUP (OTOA) METABOLIC CARDIOMYOPATHIES PANEL (24 genes) CONGENITAL ERYTHROPOIETIC PORPHYRIA (CEP) STEREOCILIN DEL / DUP (STRC) ERYTHROPOIETIC PROTOPORPHYRIA (EPP) USHER SYNDROME PANEL (11 genes) AORTOPATHIES PANEL (33 genes) CONGENITAL HEART DISEASE PANEL (43 genes) PEPT2 (SLC15A2) Genotyping for Acute Porphyria Patients ZELLWEGER SYNDROME PANEL (9 genes) PORPHYRIA CUTANEA TARDA (PCT) Add on ULTRA-HIGH RESOLUTION HEARING LOSS DEL / DUP ARRAY if panel is FAMILIAL HYPERCHOLESTEROLEMIA PANEL (4 genes) METABOLIC DISORDERS SINGLE GENE DIAGNOSTIC TESTING: negative or inconclusive HEREDITARY HEMORRHAGIC TELANGIECTASIA PANEL (5 genes) Run simultaneous to panel METABOLIC CARDIOMYOPATHIES PANEL (24 genes) AMINOACIDOPATHIES AND UREA CYCLE DISORDERS: gene ______________ SKELETAL NOONAN SPECTRUM DISORDERS PANEL (18 genes) CHOLESTEROL: gene _________________________________________ ACHONDROPLASIA (FGFR3) PULMONARY HYPERTENSION PANEL (10 genes) DISORDERS OF CARBOHYDRATE METABOLISM: gene __________________ FGFR3 Hotspot Panel reflex to sequencing if negative Add on ULTRA-HIGH RESOLUTION CARDIOVASCULAR DEL/DUP ARRAY if panel is FATTY ACID OXIDATION DISORDERS: gene FGFR3 Full Gene Sequencing negative or inconclusive LYSOSOMAL STORAGE DISORDERS AND OTHER DISORDERS: gene CRANIOSYNOSTOSIS (8 genes) Run simultaneous to panel ORGANIC ACIDEMIAS : gene HYPOPHOSPHATASIA (ALPL) PEROXISOMAL STORAGE DISEASES: gene NEURODEVELOPMENTAL LIMB DEFECTS PANEL (8 genes) Please specify gene to be analyzed in space provided; see back pages for available ROBERTS SYNDROME (ESCO2) COMPREHENSIVE EPILEPSY AND AUTISM PANEL (401 genes) includes subpanels genes listed below NEUROMUSCULAR COMPREHENSIVE EPILEPSY PANEL (226 genes) includes subpanels listed SINGLE GENE DIAGNOSTIC TESTING DUCHENNE MUSCULAR DYSTROPHY (NGS and DEL / DUP) below SINGLE GENE DIAGNOSTIC TESTING _________________________ SPINAL MUSCULAR ATROPHY (SMN1/SMN2 - DEL / DUP) FOCAL, GENERALIZED, AND MYOCLONIC EPILEPSY PANEL (52 genes) See back pages for available genes INFANTILE EPILEPSY PANEL (58 genes) Please note: any gene included on a panel may be ordered individually MIGRAINE PANEL (7 genes) OTHER NEURONAL CEROID LIPOFUSCINOSES PANEL (9 genes) TARGETED TESTING: gene ____________ variant ________ NEURONAL MIGRATION PANEL (22 genes) proband _____________________________________________ SYNDROMIC EPILEPSY AND INTELLECTUAL DISABILITY PANEL (93 genes) COMPREHENSIVE AUTISM PANEL (228 genes) includes subpanels listed below Familial follow-up to proband SEMA4 lab number: ________________________ _____________________ FRAGILE X SYNDROME (FMR1) Full Gene Sequencing CGG Repeat STAT AUTISM PANEL (30 genes) DNA extraction and Hold MICROCEPHALY PANEL (78 genes) Add on EPILEPSY PHARMACOGENETIC PANEL (10 genes) *Targeted genotyping only. Add on ULTRA-HIGH RESOLUTION NEURODEVELOPMENTAL DEL / DUP ARRAY if panel is negative or inconclusive Run simultaneous to panel Add on Chromosome Microarray (aCGH 180K +SNP) FFP0285GE00420 PAGE 1 OF 7 PATIENT NAME DATE OF BIRTH PHYSICIAN NAME PRACTICE NAME PHENOTYPE Detailed medical records, clinical summary, pictures and family history must be attached. PEDIGREE OTHER FACTORS CARDIOVASCULAR (continued): Yes (Provide Details Below) Ventricular fibrillation HP:0001663 Alcohol Withdrawal Ventricular septal defect HP:0001629 Drug/Toxin-Induced Ventricular tachycardia HP:0004756 Head Injury Other: _________________________ Known Environmental Risk Factors No List Drugs Used (If Known) ______________ Unknown List Toxins Exposed If Known_______ Maternal teratogenic exposure HP:0011438 CRANIOFACIAL DYSMORPHISM Metabolic Or Electrolyte Imbalance Yes (Provide Details Below) Systemic Infection Head Triggered by sleep deprivation HP:0025222 Craniosynostosis HP:0001363 Triggered by stress HP:0025226 Frontal bossing HP:0002007 Other: _________________________ Macrocephaly HP:0000256 No Microcephaly HP:0000252 Unknown Sloping forehead HP:0000340 White forelock HP:0002211 BEHAVIORAL FINDINGS Face Yes (Provide Details Below) Coarse facial features HP:0000280 Abnormal aggressive, impulsive or violent behavior HP:0006919 Eyes Attention deficit hyperactivity disorder HP:0007018 Aniridia HP:0000526 Autism HP:0000717 Bilateral microphthalmos HP:0007633 Autistic behavior HP:0000729 Blepharospasm HP:0000643 Hyperactivity HP:0000752 Blue sclerae HP:0000592 Obsessive-compulsive behavior HP:0000722 Cataract HP:0000518 Psychiatric Abnormalities Coloboma HP:0000589 Psychosis HP:0000709 Downslanted palpebral fissures HP:0000494 Short attention span HP:0000736 Ectopia lentis HP:0001083 Specific learning disability HP:0001328 Epicanthus HP:0000286 Stereotypy HP:0000733 Heterochromia HP:0001100 Other: _________________________ Hypertelorism HP:0000316 ICD-10 CODES No Lisch nodules HP:0009737 299.0 Autism, Current Infantile Or Childhood HP:0000717 Unknown Microphthalmia HP:0000568 F84.0 Autistic Disorder HP:0000717 BRAIN MALFORMATIONS/ABNORMAL IMAGING: Nystagmus HP:0000639 G40 Epilepsy And Recurrent Seizures HP:0001250 Ptosis HP:0000508 H54.7
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