Patient data (please fill out clearly inblock letters) Family name 160065170067 First name Date of birth Day Month Year Request form Id. No. Age MOLECULAR GENETIC ANALYSES male (DNA Analyses) female Client data Center for Human Genetics Ingelheim Konrad-Adenauer-Str. 17 55218 Ingelheim, Germany Physician Phone +49-6132-781-433, -203, -224, -165 or -578 Fax +49-6132-781-298 or -236 E-mail: [email protected] [email protected] Website: www.bioscientia.com Sample type EDTA blood Amniotic fluid Umbilical cord blood DNA Chorionic villi others, please specify Number of tubes sent Sampling date Indication - Clinical data Please note that detailed pedigree and clinical information is important for interpretation of results. Please provide the following information: Parental consanguinity yes no Patient/proband is affected yes no Family members affected yes no if yes, who Clinical data (medical history, report copies welcome) Ethnic origin Caucasian Asia French Canadian/Acadian Other Middle East Ashkenazi/Jewish Finnish In our lab we offer different testing panels by Next-Generation Sequencing (NGS). The spectrum covered by these panels is being extended constantly. For further information, please contact us (+49 6132-781-433). Declaration of Informed Consent I agree that my test results will not be destroyed after 10 - Please delete as appropriate - With my signature, I declare that I was briefed on years (as is requested by law) to allow my family access to them in the event of my death. Place, date: _____._____._____ I consent to the results of the tests being made available to the following persons in addition to the doctor who submitted ________________________________________ ___________________________________________ them: (physician) Name of patient / legal representative: about the nature, importance and implications of the ________________________________________________ genetic test and that I give my consent to the following I hereby agree to the transfer, in accordance with § 950 BGB, ________________________________________ genetic analysis and to the collection of the blood or of any test material remaining at the end of the analysis to the tissue samples needed for this purpose: laboratory that carried out the analysis and I consent to its Signature of patient / legal representative: use for scientific purposes in pseudoanonymized form. ___________________________________________ I consent to the communication of my data to a medical bil- ___________________________________________ I consent to the storage, in accordance with legal ling clearing house for invoicing purposes. requirements, of the recorded data in paper and/or I am aware that I may withdraw this consent at any time, ver- electronic form and to their use and/or publication in bally or in writing, without giving reasons and without this pseudoanonymized form for scientific purposes for having any adverse consequences for me. quality assurance. 04.2013 · Reproduction prohibited. 5-13-0623 j This label should be stuck onto the attached copy and kept for your Copyright bioscientia records. DO NOT SEND TO US. specimen material specimen material specimen material specimen material specimen material specimen material Array-CGH (specific form available) NEXT-GENERATION SEQUENCING (NGS) PANELS Eye (retinal) panels Kidney/Liver panels Other ciliopathy panels Leber congenital amaurosis (LCA) Polycystic kidney diseases Bardet-Biedl syndrome/ Retinitis pigmentosa, autosomal dominant (ADPKD/ARPKD) Alstrom syndrome Retinitis pigmentosa, autosomal recessive Nephronophthisis (NPHP)/ Joubert syndrome Cone-rod dystrophy UMOD-related disorders Meckel-Gruber syndrome Senior-Loken syndrome Senior-Loken syndrome Jeune syndrome (ATD) Renal hypo-/dysplasia/agenesis/CAKUT Ellis-van-Crefeld syndrome (EVC) Deafness panels Renal tubular dysgenesis (RTD) Sensenbrenner syndrome (CED) Deafness, autosomal dominant Nephrotic syndrome (SRNS) Filamin diseases Deafness, autosomal recessive Focal segmental glomerulosclerosis (FSGS) Primary ciliary dyskinesia (PCD)/ Deafness, X-linked Alport syndrome Kartagener syndrome Usher syndrome Hemolytic uremic syndrome (aHUS)/ Jervell- and Lange-Nielsen syndrome, DDD/MPGN Other NGS-panels SANDD syndrome Polycystic liver diseases (PCLD) Neurofibromatosis (NF) Tuberous Sclerosis (TSC) Skeletal/Connective tissue panels Alport syndrome Marfan syndrome and related diseases MODY diabetes Ehlers-Danlos syndrome Osteogenesis imperfecta Osteopetrosis, autosomal recessive Filamin diseases All genes analysed by NGS can still be examined by conventional Sanger-sequencing (see below). MOLECULAR GENETIC ANALYSES (in alphabetical order) A Gene(s) Aromatic L-aminoacid DDC CHARGE syndrome CHD7 Achondrogenesis, type 2 COL2A1 decarboxylase deficiency* Chloride diarrhea, familial* SLC26A3 Achondroplasia FGFR3 ARPKD PKHD1 Chondrodysplasia type Grebe CDMP1 Acromesomelic dysplasia, type Grebe CDMP1 (see polycystisc kidney disease) Chorea Huntington* HTT Acromesomelic dysplasia, NPR2 Arthrogryposis multiplex congenita* TPM2, TNNI2 Chronic lymphatic leukemia (CLL) IgVH type Maroteaux Arylsulfatase A deficiency* ARSA Ciliary dyskinesia, primary Acute lymphoblastic leukemia* (ALL) Ataxia, autosomal dominant 3 SCA1, SCA2, DNAH5 Acute myeloid leukemia* (AML) SCA3, SCA6, SCA7, SCA17 DNAI1 ADMCKD UMOD Ataxia with isolated TTPA CINCA syndrome NLRP3 (Autosomal dominant medullary Vitamin E deficiency* Cleidocranial dysplasia RUNX2 cystic kidney disease) Ataxia with oculomotor apraxia 1* APTX Clubbing of digits HPGD ADPKD PKD1, PKD2 Ataxia teleangiectasia* ATM COACH syndrome (see polycystic kidney disease) Atypical PKU* (see Joubert syndrome) Adrenal hyperplasia, congenital, CYP21A2 (Tetrahydropterin, BH4-Mangel) Coats disease* NDP due to 21-hydroxylase deficiency Auditory neuropathy Cockayne syndrome* ERCC8, ERCC6 Adrenoleukodystrophy ABCD1 Autoimmune lymphopro- TNFRSF6 Colon carcinoma Afibrinogenemia, congenital* FGA, FGB, FGG liferative syndrome type 1A* non polyposis associated, MLH1, MSH2 Agammaglobulinemia, X-linked* BTK Autoimmune polyendocrine AIRE familial (HNPCC)* Alagille syndrome JAG1 syndrome type 1* poliposis coli, APC, MUTYH Albright syndrome* GNAS Azoospermia* USP9Y familial adenomatous Alexander disease* GFAP Congenital disorder of PMM2 Alkaptonuria* HGD B Gene(s) glycosylation type 1a* Alpha-1 antitrypsin deficiency SERPINA1 Bannayan-Riley-Ruvalcaba syndrome* PTEN Corneal dystrophy DCN Alpha galactosidase A deficiency GLA Bardet-Biedl syndrome 1,2,3 Cornelia-De-Lange syndrome* NIPBL (Fabry disease) BCR/ABL (chronic myeloid leukemia) BCR/ABL CORS syndrome Alpha thalassemia* HBA Beckwith-Wiedemann syndrome (see Joubert syndrome) Alport-like syndrome (Epstein/Fechtner) MYH9 methylation analysis Costello syndrome* HRAS Alport syndrome KvDMR1 and H19-DMR Coumarin resistance VKORC1 X-linked COL4A5 microsatellite analysis UPD(11)pat Cowden syndrome* PTEN autosomal recessive, COL4A3, COL4A4 sequence analysis CDKN1C CDKN1C Cranioectodermal dysplasia autosomal dominant Beta thalassemia* HBB Craniosynostosis, FGFR1, FGFR2, FGFR3 Alstrom syndrome ALMS1 Bloch-Sulzberger syndrome* IKBKG FGFR associated Alzheimer disease* (Incontinentia pigmenti, IP2) Crigler-Najjar syndrome UGT1A1 familial, type 1 APP Bloom syndrome* RECQL3 Crouzon syndrome familial, type 3 PSEN1 (Sister Chromatid Exchange (SCE)) (see Craniosynostosis) Andersen-Tawil syndrome KCNJ2 BOR syndrome 1,3 Cystinosis* CTNS Androgen insensitivity syndrome* AR Brachydactyly type C CDMP1 Cystinuria* Angelman syndrome Breast/Ovarian cancer* BRCA1, BRCA2 Cystic fibrosis 3 CFTR methylation analysis SNRPN SNRPN Brugada syndrome SCN5A most common mutations with OLA microsatellite analysis UPD(15)pat Burkitt lymphoma* MYC Middle-East-Panel sequence analysis UBE3A UBE3A Butyrylcholinesterase deficiency* BCHE Cystic kidney disease Angiotensin I converting enzyme ACE Byler disease ATP8B1 (see polycystic kidney disease) Aniridia PAX6 Cytochrom P450 defects Anonychia RSPO4 C Gene(s) Antley-Bixler syndrome* CADASIL NOTCH3 D Gene(s) Apert syndrome (see Craniosynostosis) Campomelic dysplasia* SOX9 Deafness, autosomal recessive 1,2,3 Apolipoprotein B APOB Canavan syndrome* ASPA GJB2/Cx26 DNFB1 04.2013 · Reproduction prohibited. 5-13-0623 j Apolipoprotein E APOE Carnitine deficiency*, systemic primary SLC22A5 DNFB1 GJB6/Cx30 Apparent mineralcorticoid excess HSD11B2 Carnitine palmitoyl CPT1 Pendred syndrome SLC26A4, FOXI1 Arginase deficiency* ARG1 transferase I deficiency* Deafness, autosomal dominant 1,2,3 Argininosuccinate lyase deficiency* ASL Carnitine palmitoyl CPT2 Dentato-Rubro-Pallido-Luysiane atrophy* ATN1 Argininosuccinate synthetase ASS1 transferase II deficiency* Denys-Drash syndrome WT1 deficiency* Catechol-O methyltransferase activity COMT Desbuquois syndrome CANT1 Copyright bioscientia Aristaless-gene-related disorders* ARX Ceroid lipofuscinosis, neural (all types) 000000000001 Diabetes, (MODY) 3 Hyperkalemic periodic paralysis SCN4A Methylentetrahydrofulate MTHFR Maturity Onset Diabetes of the Young Hyperoxaluria, primary reductase Diabetes insipidus Hyperthyroidism, TSHR Methylmalonic aziduria* MUT Diabetes mellitus, neonatal with GLIS3 familial, non autoimmune Meulengracht syndrome UGT1A1 congenital hypothyroidism Hypochondroplasia FGFR3 Mikrosatellite analysis (maternal Diamond-Blackfan anemia* RPS19 Hypokalemic periodic paralysis CACNA1A, SCN4A contamination of fetal specimen) Dihydropteridine reductase deficiency* QDPR Hypophosphatasia, infantile* ALPL Mitochondrial complex II deficiency* SDHA