Metabolic unit_DNA diagnostics_v2.1
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afslagplaatje Page 1/2 DNA _v_2.1 Metabolic Unit / DNA Diagnostics VU University Medical Center To be filled in by our laboratory: Lab nummer: ......................................................................................... Onderzoek: ............................................................................................. Datum ontv: ................................................. Project: ...................... type deelv. / indicatie functional assay invoice s/i questionnaire e-mail of receival PED / PEV / G KGCA 20-124 / N / BL ontv. invoer brief autorisatie type declaratie deelv./indicatie DNA RNA MLPA / DHPLC DNA / DNV / PDD / G KGCA / N /BL 15 16 / 17 18 19 76 Please fill in the following fields: Patient information Family name: ............................................................................................... First name:.................................................................. Male Female Date of birth: (dd/mm/yyyy) .............................................................. Your reference nr: ......................................................................... DNA Blood (e.g. 2 ml EDTA) Fibroblasts Lymphoblasts Other: ............................................................................................ Family members previously tested? No Yes: Our lab nr(s): ......................................................... Please provide pedigree: Requested test (page 2 for prenatal) PFKM Gene/Disorder (page 2): .................................................................. Known mutation: ............................................................................. Clinical signs and symptoms: (please provide detailed information) .......................................................................................................................................................................................................................................................... .......................................................................................................................................................................................................................................................... .......................................................................................................................................................................................................................................................... .......................................................................................................................................................................................................................................................... .......................................................................................................................................................................................................................................................... .......................................................................................................................................................................................................................................................... .......................................................................................................................................................................................................................................................... Clinical Molecular Geneticist Dr Gajja S Salomons ([email protected]) Phone: + 31(0)20 444 2914 Clinical Biochemical Geneticists Dr H Blom ([email protected]) Drs MAC Wamelink ([email protected]) Phone: +31(0)20 444 2881 Head Metabolic Unit Prof. dr ir C Jakobs([email protected]) Secretary: K.D. Studer ([email protected]) Phone +31 (0)20 444 2880/Fax +31(0)20 444 0305 Page 2/2 Metabolic Unit / DNA Diagnostics VU University Medical Center Referring physician: ................................................................................................................................................................................................ Department: ...................................................................................................................................................................................................................... Hospital/institute: ........................................................................................................................................................................................................... Address: ............................................................................................................................................................................................................................. City and Zip-code: .......................................................................................................................................... Country: ............................................................................................................................................................. Please indicate if the patient or Phone/ Fax : ..................................................................................................................................................... carekeeper does NOT give consent for storage of materials for future E-mail address: ................................................................................................................................................ diagnostics or research. Invoice to (if different from above) Alternatively an E-112 form can be attached, only European countries. Name: .................................................................................................................................................................................................................................. Department: ...................................................................................................................................................................................................................... Hospital/institute: ........................................................................................................................................................................................................... Address: ............................................................................................................................................................................................................................. City and Zip-code: ........................................................................................................................................................................................................... Country: .............................................................................................................................................................................................................................. In the case of payment by credit card: Name: ..................................................................................................No: ......................................................................................................................... Discover Type: ................................................................................................... Exp Date:............................. Alternatively the exp. date may be sent separately (by email) List of disorders/genes tested in our laboratory Alpha-aminoadipic semialdehyde dehydrogenase deficiency (ALDH7A1/ATQ1) Glutaryl-CoA dehydrogenase deficiency (GCDH) Alexander disease (GFAP) L-2-hydroxyglutaric dehydrogenase deficiency (L2HGDH) 4-Aminobutyrate aminotransferase deficiency (GABA-T) Malonyl CoA decarboxylase deficiency (MLYCD) Arginine;glycine amidinotransferase deficiency (GATM/AGAT) Methylenetetrahydrofolate reductase deficiency (MTHFR) Canavan disease/ Asparto acylase deficiency (ASPA) Methylmalonic aciduria cblC type, with homocystinuria (MMACHC) Creatine transporter deficiency (SLC6A8) Ribose-5-phosphate isomerase deficiency (RPI) Cystathionine β-synthase deficiency (CBS) Succinic semialdehyde dehydrogenase deficiency (ALDH5A1/SSADH) D-2-hydroxyglutaric dehydrogenase deficiency (D2HGDH) Transaldolase deficiency (TALDO) Guanidinoacetate methyltransferase deficiency (GAMT) Tarui disease / GSD VII (PFKM) Cerebral creatine deficiency syndromes: AGAT, GAMT, SLC6A8 GABA metabolic pathway: ALDH5A1, SSADH, GABA-T Homocysteine metabolism: CBS, MTHFR, MMACHC Pyridoxine depent seizures/ epilepsy: ALDH7A In the case of prenatal diagnosis, please contact Dr G.S. Salomons prior to shipment: [email protected] Shipment address Clinical Molecular Geneticist Dr Gajja S Salomons ([email protected]) Phone: + 31(0)20 444 2914 Clinical Biochemical Geneticists Dr H Blom ([email protected]) Drs MAC Wamelink ([email protected]) Phone: +31(0)20 444 2881 Dr. Gajja S. Salomons VU University Medical Center Dept. of Clinical Chemistry Metabolic Unit, PK 1X 009 De Boelelaan 1117 1081 HV Amsterdam The Netherlands Head Metabolic Unit Prof. dr ir C Jakobs([email protected]) Secretary: K.D. Studer ([email protected]) Phone +31 (0)20 444 2880/Fax +31(0)20 444 0305