Cytogenetics and Molecular Genetics Postnatal Genetic Test Requisition Form Laboratory Services 700 Children’s Drive Columbus, OH 43205 Cytogenetics and Molecular Genetics Laboratory Tel: (614) 722-5477 / (800) 934-6575 Tel: (614) 722-5321 / Fax: (614) 722-5471 NationwideChildrens.org/Lab PATIENT INFORMATION (Please Print or Place ID Label) Last Name First Name MI DOB Sex SSN Patient ID # / MRN Male Female 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 Date X ADDITIONAL REPORT TO (Please Print) Name Phone Fax Genetic Counselor Physician Other Name Phone Fax Genetic Counselor Physician Other SAMPLE INFORMATION (Please Print) Collection Date Collection Time AM Collected by (Full Name) : PM Specimen Type (Check ALL that apply): Peripheral Blood ( ______ mL EDTA; ______ mL NaHep) Tissue, Type_________________________________________ Cord Blood ( ______ mL EDTA; ______ mL NaHep) DNA, Source__________________ & Conc.________________ CLINICAL INFORMATION (Please Print) Indication for Testing Is the Patient or Partner Currently Pregnant? Diagnostic Carrier No Yes (Gestational age: ____weeks ____days; EDC _______________ ) Clinical Findings (Attach clinical notes if available) 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 Patient Name (or place patient ID label) Last, First_________________________________ DOB or MRN______________________________ Laboratory Services 700 Children’s Drive Columbus, OH 43205 Tel: (614) 722-5477 / (800) 934-6575 NationwideChildrens.org/Lab 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 21-28 (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 Patient Name (or place patient ID label) Last, First_________________________________ DOB or MRN______________________________ Laboratory Services 700 Children’s Drive Columbus, OH 43205 Tel: (614) 722-5477 / (800) 934-6575 NationwideChildrens.org/Lab 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 Patient