FOR LAB USE ONLY TEST #____________________________________ Test Requisition DATE REC’D________________________________ MOLECULAR DIAGNOSTICS LABORATORY Phone: (440) 632-1668 TIME REC’D ___________ ______________ DDC CLINIC – CENTER FOR SPECIAL NEEDS CHILDREN Fax: (440) 632 -1697 14567 Madison Rd. www.ddcclinic.org Middlefield, OH 44062 Please complete all fields below. Missing or incomplete information may dela y specimen processing. PATIENT INFORMATION / / Name (Last) (First) (Middle) Date of Birth (MM/DD/YYYY) Address (Street) ( ) - (City) (State) (Zip) (Phone) RACE/ETHNICITY: ☐ African American ☐ Caucasian ☐ Amish ☐ Other GENDER: ☐ Female ☐ Male ☐ Unknown/Not Reported SPECIMEN INFORMATION - SPECIMEN SOURCE: ☐ Peripheral Blood ☐ Cord Blood ☐ DNA ☐ Other / / Please specify Date Collected: (MM/DD/YYYY) INDICATIONS FOR TESTING (Required) ------------- REASONS FOR TEST (family history, clinical symptoms, etc.) AND ICD9 CODES: RELEVANT CLINICAL AND LABORATORY INFORMATION: REFERRING PHYSICIAN, CERTIFIED NURSE MIDWIFE, GENETIC COUNSELOR / Name Title NPI# (Required for insurance billing) Address (Institution, Practice, Organization) (Street) ( ) - ( ) - (City) (State) (Zip) (Phone) (Fax) Name and phone of contact person regarding this sample: REPORT RESULTS TO ADDITIONAL PHYSICIAN, MIDWIFE, GENETIC COUNSELOR (IF APPLICABLE) Name Title Address (Institution, Practice, Organization) (Street) ( ) - ( ) - (City) (State) (Zip) (Phone) (Fax) BILLING INFORMATION (Required) Bill: ☐ Insurance Relationship of Patient to Insurance Holder: ☐ Self ☐ Child ☐ Spouse ☐ Other Please attach a legible enlarged copy of the current insurance card (front and back) AND a signed copy of the Financial Responsibility Form ☐ Referring Institution ☐ Self-pay TEST REQUESTED (PLEASE SPECIFY) ☐ Chromosomal MicroArray Analysis ☐ Sequencing Panel (Specify Disease/Gene) ☐ Targeted Mutation Analysis (Specify Disease/Gene) ☐ Whole Gene Sequencing (Specify Disease/Gene) DISEASE/ GENE(S): Rev. 07/2015 Page 1 Available Tests MOLECULAR DIAGNOSTICS LABORATORY Phone: (440) 632-1668 Fax: (440) 632-1697 DDC CLINIC – CENTER FOR SPECIAL NEEDS CHILDREN www.ddcclinic.org 14567 Madison Rd. Middlefield, OH 44062 Page 2 - Please complete demographic information on Page 1 Patient Name Date of birth Old Order Amish Targeted Mutation Analysis Whole Gene Sequencing Next Gen Sequencing Panels (NGS) ___ Aicardi-Goutieres type 5 (SAMHD1) ___ Amish Nemaline Myopathy (TNNT1) ___ Aicardi-Goutieres Syndromes (7 genes) AKA Sam's Association ___ Atypical Rett Syndrome (CDKL5) ___ Congenital Cataract, Autosomal Recessive ___ Amish Brittle Hair Brain Syndrome ___ Autosomal Recessive Osteopetrosis (14 genes) (MPLKIP) (TCIRG1) ___ Congenital Central Hypoventilation (6 genes) ___ Amish Nemaline Myopathy (TNNT1) ___ Biotinidase Deficiency (BTD) ___ Congenital Hypothyroidism, Nongoitrous (5 genes) ___ Byler Disease (ATP8B1) ___ Cornelia de Lange Syndrome (5 genes) ___ Autosomal Recessive Osteopetrosis AKA Progressive Familial ___ Cowden Syndrome (5 genes) (TCIRG1) Intrahepatic Cholestasis ___ Hereditary Spherocytosis, Autosomal ___ Byler Disease (ATP8B1) ___ Cockayne Syndrome (ERCC6) Dominant (3 genes) AKA Progressive Familial Intrahepatic ___ Cohen Syndrome (VPS13B) ___ Hereditary Spherocytosis, Autosomal Cholestasis ___ Cornelia de Lange 1 (NIPBL) Dominant and Autosomal Recessive (5 genes) ___ Cartilage-Hair Hypoplasia (RMRP) ___ Cortical Dysplasia-Focal Epilepsy Syndrome ___ Hyperekplexia (5 genes) ___ Charcot-Marie-Tooth Disease and (CNTNAP2) ___ Isolated Growth Hormone Deficiency (10 genes) Neuropathy (GDAP1) ___ Familial Hypertrophic Cardiomyopathy ___ Maple Syrup Urine Disease (4 genes) ___ Cockayne Syndrome (ERCC6) (MYBPC3) ___ Meier-Gorlin Syndrome (5 genes) ___ Cohen Syndrome (VPS13B) ___ Galloway-Mowat Syndrome (WDR73) ___ Microcephalic Osteodysplastic Primordial ___ Cortical Dysplasia-Focal Epilepsy Syndrome AKA Nephrocerebellar Syndrome Dwarfism (2 genes) (CNTNAP2) ___ Gaucher Disease (GBA) ___ Nemaline Congenital Myopathy (7 genes) ___ Crigler-Najjar Syndrome (UGT1A1) ___ Glucose-Galactose Malabsorption ___ Neurofibromatosis (3 genes) ___ Dystonia 6, Torsion (THAP1) (SLC5A1) ___ Overgrowth and Intellectual Disability (8 genes) ___ Factor V Leiden (F5) ___ GM3 Synthase Deficiency (ST3GAL5) ___ Parkinson, Early-Onset Autosomal Recessive ___ Familial Hypertrophic Cardiomyopathy ___ HERC2 Defect Syndrome (HERC2) (7 genes) (MYBPC3) AKA Mental Retardation, AR 38 ___ Pituitary Hormone Deficiency, Combined (6 genes) ___ Gaucher Disease (GBA) ___ Hereditary Spherocytosis type 4 (SLC4A1) ___ Rett Syndrome (2 genes) ___ Glucose-Galactose Malabsorption ___ Hypercholesterolemia, autosomal recessive ___ Rett Plus Atypical Rett Syndrome (4 genes) (SLC5A1) (LDLRAP1) ___ Seckel Syndrome (5 genes) ___ Glycogen Storage Disease type 1a ___ Long QT Syndrome 1 (KCNQ1) ___ Severe Congenital Neutropenia, Nonsyndromic (G6PC) ___ Neurodegeneration with Brain Iron (5 genes) ___ GM3 Synthase Deficiency (ST3GAL5) Accumulation 1 (PANK2) ___ Tuberous Sclerosis Complex (2 genes) ___ Hemophilia B (F9) ___ Phenylketonuria (PAH) _ ___ Tyrosinemia (4 genes) ___ HERC2 Defect Syndrome (HERC2) ___ Prolidase Deficiency (PEPD) AKA Mental Retardation, AR 38 ___ Propionic Acidemia (PCCB) ___ Hereditary Spherocytosis type 4 Cardiology NGS Panels ___ Pyruvate Kinase Deficiency (PKLR) (SLC4A1) ___ Arrhythmogenic Right Ventricular Cardio- ___ Rett Syndrome (MECP2) ___ KPTN Defect Syndrome (KPTN) myopathy (9 genes) ___ Sam's Association (SAMHD1) AKA Mental Retardation, AR 41 ___ Brugada Syndrome (14 genes) AKA Aicardi-Goutieres type 5 ___ Long QT Syndrome 1 (KCNQ1) ___ Cardiofaciocutaneous Syndrome (4 genes) ___ Troyer Syndrome (SPG20) ___ McKusick-Kaufman Syndrome (MKKS) ___ Catecholaminergic Polymorphic Ventricular ___ Microcephalic Osteodysplastic Primordial Tachycardia (6 genes) Dwarfism, type 1 (RNU4ATAC) ___ Familial Hypercholesterolemia (4 genes) ___ Neurodegeneration with Brain Iron Known Familial Mutation analysis: ___ Familial Hypercholesterolemia, Autosomal Accumulation 1 (PANK2) Gene: ____________________________ Dominant Only (3 genes) ___ Phenylketonuria (PAH) Mutation _____________________ ___ Familial Thoracic Aortic Aneurysm (10 genes) ___ Prolidase Deficiency (PEPD) Include report if available ___ Hypertrophic Cardiomyopathy (16 genes) ___ Propionic Acidemia (PCCB) ___ Loeys-Dietz Syndrome (5 genes) ___ Pyruvate Kinase Deficiency (PKLR) ___ Long QT Syndrome (11 genes) ___ Sam's Association (SAMHD1) Next Generation Sequencing Notes: ___ Marfan Syndrome (3 genes) AKA Aicardi-Goutieres type 5 More genes and custom gene panels ___ Non-Compaction Cardiomyopathy (8 genes) ___ Spastic Ataxia 4 (MTPAP) available upon request. ___ Noonan Syndrome (9 genes) ___ Symptomatic Epilepsy and Skull Dysplasia Please call to discuss. ___ Noonan Syndrome and Related Disorders (SNIP1) AKA RASopathies (11 genes) ___ TMCO1 Defect Syndrome (TMCO1) ___ Restrictive Cardiomyopathy (10 genes) ___ Troyer Syndrome (SPG20) ____ Chromosomal MicroArray Analysis ___ Short QT Syndrome (6 genes) AKA Spastic Paraplegia 20, Autosomal Recessive ___ Yoder Dystonia (WDR73) AKA Galloway-Mowat Syndrome or Nephrocerebellar Syndrome (NCS) Rev. 7/2015 Page 2 .