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Molocular Genetics Referral Department of Clinical Genetics Prøvenr.: Aarhus University Hospital

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Molocular Genetics Referral Department of Clinical Genetics Prøvenr.: Aarhus University Hospital Molocular Genetics Referral Department of Clinical Genetics Prøvenr.: Aarhus University Hospital Patient name (label): Modtage dato: Date of birth Gender Male Female Familie nr.: Requesting physician: (capital letters) Clinic/Department Phone, fax, e-mail Billing to Person reference Postal address International Purchase Order (IPO) number Sample type Date Blood Your reference number: DNA Other tissue (tissue type) Clinical informations Family informations/proband Known mutation Screening Analyses DNA-analysis (please specify on page 2) (7,5 ml EDTA blood. Infants at least 3 ml EDTA blood) Array-CGH (180K, standard analyse) High resolution array-CGH (1000k) (7,5 ml EDTA blood and 2 ml Li-heparin blood) Chromosome analysis – blood (2 ml Li-heparin blood. Infants at least 0,5 ml Li-heparin blood.) Cytogenetic analysis for Fanconis anemia (5 ml Li-heparin blood, special conditions concerning sample shipment, see www.kga.skejby.dk) Chromosome analysis – other tissue FISH analysis for: (2 ml LI-heparin blood) continue on next page For Laboratory Use Only Lægevisitation Laboratoriesignatur / Department of Clinical Genetics Aarhus University Hospital Brendstrupgårdsvej 21 C, DK-8200 Aarhus N Tel. +45 7845 5510 • Fax: +45 8678 3181 • www.kga.auh.dk 1/2 Molocular Genetics Referral Patient name and date of birth (label) DNA-analyses Skeletal Dysplasia (7,5 ml EDTA- blood. Infants at least 3 ml EDTA- blood) Achondroplasia (FGFR3) Hypochondroplasia (FGFR3) Muscular Dystrophies Saethre-Chotzen syndrome (TWIST) Becker Muscular Dystrophy (DMD) Thanatophoric Dysplasia Type 1 (FGFR3) Duchenne Muscular Dystrophy (DMD) Thanatophoric Dysplasia Type 2 (FGFR3) Myotonic Dystrophy (DMPK) Facio Scapulo Humeral Muscular Dystrophy (D4Z4, 4q35) Genodermatoses Limb-Girdle Muscular Dystrophy type 2I (FKRP) Darier disease (ATP2A2) Oculopharyngeal Muscular Dystrophy (PABPN1) Epidermolytic Palmoplantar Keratoderma (KRT9) Epidermolysis Bullosa Simplex (KRT5 and KRT14) Peripheral Neuropathies Hypohidrotic Ectodermal Dysplasia autosomal (EDAR) Charcot-Marie-Tooth Neuropathy 1A, 1B, 1X Hypohidrotic Ectodermal Dysplasia, X-linked (EDA) Charcot-Marie-Tooth Neuropathy 1A (PMP22) Ichthyosis, X-linked Charcot-Marie-Tooth Neuropathy Type 1B (MPZ) (steroidsulfatase deficiency) (STS) Charcot-Marie-Tooth Neuropathy Type 1X (GJB1) Keratin 1 (KRT1) Charcot-Marie-Tooth Neuropathy Type 2A (MFN2) Keratin 10 (KRT10) Familial Transthyretin Amyloidosis (TTR) Hereditary Neuropathy with Liability to Pressure Various Syndromes Palsies (PMP22) Angelman Syndrome (15q11-13) Spinal and Bulbar Muscular Atrophy (AR) Beckwith-Wiedemann Syndrome (11p15) Spinal Muscular Dystrophy Type 1, 2, 3 (SMN1) 22q11 Deletion Syndrome (22q11) Fragile-X Syndrome (FMR1) Hereditary Ataxia LEOPARD Syndrome (PTPN11) Friedreichs ataxia (FRDA) Miller-Dieker Syndrome Spinocerebellar Ataxia Type 1, 2, 3, 6, 7 (Lissencephali) (LIS1) Spinocerebellar Ataxia Type 1 (ATXN1) Noonan Syndrome (PTPN11, SOS1) Spinocerebellar Ataxia Type 2 (ATXN2) Prader-Willi Syndrome (15q11-13) Spinocerebellar Ataxia Type 3 (ATXN3) Silver-Russel Syndrome (11p15) Spinocerebellar Ataxia Type 6 (CACNA1A) William Syndrome (7q11) Spinocerebellar Ataxia Type 7 (ATXN7) Other diseases Neurodegenerative Diseases Hemophilia A (F8) Huntington Disease (HTT) Spielmeyer-Vogts Disease (CLN3) Parkinson Disease (juvenile-onset) (PARK2) Male infertility Cranio Synostosis Syndromes Cystic Fibrosis (CFTR) Apert Syndrome (FGFR2) Y Chromosome Deletion Analysis Crouzon Syndrome (FGFR2) Muenke Syndrome (FGFR3) Pfeiffer Syndrome (FGFR1) Prenatal Diagnostic: Please contact us prior to sending samples. A blood sample from the pregnant woman E-mail: [email protected] must accompany the prenatal sample to Tel: +45 3093 9932 allow analysis for maternal contamination. Layout: Department of Aarhus University Hospital EV0114HN Date and Signature Department of Clinical Genetics Aarhus University Hospital Brendstrupgårdsvej 21 C, DK-8200 Aarhus N Tel. +45 7845 5510 • Fax: +45 8678 3181 • www.kga.auh.dk 2/2.
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