MOLECULAR GENETIC ANALYSES

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1 Patient data (please fill out clearly in block letters) Family name First name Date of birth Id. No. Day Month Year Age male female Request form MOLECUL GENETIC ANALYSES (DNA Analyses) Client data Physician Center for Human Genetics Ingelheim Konrad-Adenauer-Str Ingelheim, Germany Phone , -203, -224, -165 or -578 Fax or Website: Sample type EDTA blood DNA Amniotic fluid Chorionic villi Umbilical cord blood 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 Patient/proband is affected Family members affected yes yes yes no no no if yes, who Clinical data (medical history, report copies welcome) Ethnic origin Caucasian Middle East Asia Ashkenazi/Jewish French Canadian/Acadian Finnish Other 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 ( ). Copyright bioscientia j Reproduction prohibited Declaration of Informed Consent With my signature, I declare that I was briefed on.. (physician) about the nature, importance and implications of the genetic test and that I give my consent to the following genetic analysis and to the collection of the blood or tissue samples needed for this purpose: I consent to the storage, in accordance with legal requirements, of the recorded data in paper and/or electronic form and to their use and/or publication in pseudoanonymized form for scientific purposes for quality assurance. I agree that my test results will not be destroyed after 10 years (as is requested by law) to allow my family access to them in the event of my death. I consent to the results of the tests being made available to the following persons in addition to the doctor who submitted them: I hereby agree to the transfer, in accordance with 950 BGB, of any test material remaining at the end of the analysis to the laboratory that carried out the analysis and I consent to its use for scientific purposes in pseudoanonymized form. I consent to the communication of my data to a medical billing clearing house for invoicing purposes. I am aware that I may withdraw this consent at any time, verbally or in writing, without giving reasons and without this having any adverse consequences for me. Place, date: - Please delete as appropriate - Name of patient / legal representative: Signature of patient / legal representative: This label should be stuck onto the attached copy and kept for your records. DO NOT SEND TO US.

2 Array-CGH (specific form available) NEXT-GENERATION SEQUENCING (NGS) PANELS Eye (retinal) panels Leber congenital amaurosis (LCA) Retinitis pigmentosa, Retinitis pigmentosa, Cone-rod dystrophy Senior-Loken syndrome Deafness panels Deafness, Deafness, Deafness, Usher syndrome, SANDD syndrome Kidney/Liver panels Polycystic kidney diseases (ADPKD/PKD) Nephronophthisis (NPHP)/ -related disorders Senior-Loken syndrome Renal hypo-/dysplasia/agenesis/cakut Renal tubular dysgenesis (RTD) Nephrotic syndrome (SRNS) Focal segmental glomerulosclerosis (FSGS) Hemolytic uremic syndrome (ahus)/ DDD/MPGN Polycystic liver diseases (PCLD) Skeletal/Connective tissue panels Marfan syndrome and related diseases Ehlers-Danlos syndrome Osteogenesis imperfecta Osteopetrosis, Filamin diseases Other ciliopathy panels Bardet-Biedl syndrome/ Joubert syndrome Meckel-Gruber syndrome Jeune syndrome (ATD) Ellis-van-Crefeld syndrome (EVC) Sensenbrenner syndrome (CED) Filamin diseases Primary ciliary dyskinesia (PCD)/ Kartagener syndrome Other NGS-panels Neurofibromatosis (NF) Tuberous Sclerosis (TSC) MODY diabetes All genes analysed by NGS can still be examined by conventional Sanger-sequencing (see below). MOLECUL GENETIC ANALYSES (in alphabetical order) Copyright bioscientia j Reproduction prohibited A Achondrogenesis, Achondroplasia Acromesomelic dysplasia, type Grebe Acromesomelic dysplasia, type Maroteaux Acute lymphoblastic leukemia* (ALL) Acute myeloid leukemia* (AML) ADMCKD (Autosomal dominant medullary cystic kidney disease) ADPKD Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Adrenoleukodystrophy Afibrinogenemia, congenital* Agammaglobulinemia, * Alagille syndrome Alexander disease* Alkaptonuria* Alpha-1 antitrypsin deficiency Alpha galactosidase A deficiency (Fabry disease) Alpha thalassemia* Alport-like syndrome (Epstein/Fechtner), Alzheimer disease* familial, familial, type 3 Andersen-Tawil syndrome Androgen insensitivity syndrome* Angelman syndrome microsatellite analysis UPD(15)pat sequence analysis UBE3A Angiotensin I converting enzyme Aniridia Anonychia Antley-Bixler syndrome* Apert syndrome (see Craniosynostosis) Apolipoprotein B Apolipoprotein E Apparent mineralcorticoid excess Arginase Argininosuccinate lyase Argininosuccinate synthetase Aristaless-gene-related disorders* NPR2 PKD1, PKD2 CYP21A2 ABCD1 FGA, FGB, FGG BTK JAG1 GFAP HGD SERPINA1 HBA MYH9 COL4A5 COL4A3, COL4A4 APP PSEN1 KCNJ2 UBE3A ACE PAX6 RSPO4 APOB APOE HSD11B2 G1 ASL ASS1 X B C Aromatic L-aminoacid decarboxylase PKD (see polycystisc kidney disease) Arthrogryposis multiplex congenita* Arylsulfatase A Ataxia, 3 Ataxia with isolated Vitamin E Ataxia with oculomotor apraxia 1* Atypical PKU* (Tetrahydropterin, BH4-Mangel) Auditory neuropathy Autoimmune lymphoproliferative syndrome A* Autoimmune polyendocrine syndrome * Azoospermia* DDC TPM2, TNNI2 SA SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 TTPA Bannayan-Riley-Ruvalcaba syndrome* BCR/ABL (chronic myeloid leukemia) Beckwith-Wiedemann syndrome KvDMR1 and H19-DMR microsatellite analysis UPD(11)pat sequence analysis CDKN1C Beta thalassemia* Bloch-Sulzberger syndrome* (Incontinentia pigmenti, IP2) BOR syndrome 1,3 Brachydactyly type C Breast/Ovarian cancer* Brugada syndrome Burkitt lymphoma* Butyrylcholinesterase Byler disease CADASIL Campomelic dysplasia* Canavan syndrome* Carnitine, systemic primary transferase I transferase II Catechol-O methyltransferase activity Ceroid lipofuscinosis, neural (all types) APTX TNFRSF6 AIRE USP9Y BCR/ABL CDKN1C IKBKG BRCA1, BRCA2 SCN5A MYC BCHE ATP8B1 NOTCH3 SOX9 ASPA SLC22A5 CPT1 CPT2 COMT D CHGE syndrome Chloride diarrhea, familial* Chondrodysplasia type Grebe Chorea Huntington* Chronic lymphatic leukemia (CLL) Ciliary dyskinesia, primary CINCA syndrome Cleidocranial dysplasia Clubbing of digits COACH syndrome Coats disease* Cockayne syndrome* Colon carcinoma non polyposis associated, familial (HNPCC)* poliposis coli, familial adenomatous Congenital disorder of glycosylation a* Corneal dystrophy Cornelia-De-Lange syndrome* CORS syndrome Costello syndrome* Coumarin resistance Cowden syndrome* Cranioectodermal dysplasia Craniosynostosis, FGFR associated Crigler-Najjar syndrome Crouzon syndrome (see Craniosynostosis) Cystinosis* Cystinuria* Cystic fibrosis 3 most common mutations with OLA Middle-East-Panel Cystic kidney disease Cytochrom P450 defects CHD7 SLC26A3 HTT IgVH DNAH5 DNAI1 RUNX2 ERCC8, ERCC6 MLH1, MSH2 PMM2 DCN NIPBL HRAS VKORC1 FGFR1, FGFR2, Deafness, 1,2,3 Pendred syndrome Deafness, 1,2,3 Dentato-Rubro-Pallido-Luysiane atrophy* Denys-Drash syndrome Desbuquois syndrome CTNS GJB2/Cx26 GJB6/Cx30 SLC26A4, FOXI1 ATN1 CANT

3 E F G H Diabetes, (MODY) 3 Maturity Onset Diabetes of the Young Diabetes insipidus Diabetes mellitus, neonatal with congenital hypothyroidism Diamond-Blackfan anemia* RPS19 Dihydropteridine reductase QDPR DPD deficiency DPYD (Dihydropyrimidine dehydrogenase deficiency) Dravet syndrome Dysautonomia, familial (Riley-Day syndrome) Dyserythropoietic anemia with thrombocytopenia* Dysfibrinogenemia, congenital 3 Dystonia (DOPA responsive) Dystonia (torsion 1, ) Ehlers-Danlos syndrome 1 Ectodermal dysplasia * EDA Ektrodactyly (EEC syndrome)* TP63 Ellis-van-Creveld syndrome EVC1, EVC2 Epilepsies Epidermolysis bullosa Ewing sarcoma, t(11;22) translocation* EWS Fabry disease Factor II deficiency Factor V Leiden mutation Factor V- and Factor VIII deficiency, combined Factor X deficiency Familial mediterranean fever (FMF) Fanconi anemia* Fatty acid oxidation disorder (acylcarnitine profile)* Feingold syndrome* Fragile X syndrome Fraser syndrome* Frasier syndrome Friedreich ataxia* Fructose intolerance, hereditary Fructose-1,6-bisphosphatase- FSGS 1,3 (fokal segmental glomerulosclerosis) Galactosemia* Gaucher disease* Glaucoma* Glomerulosclerosis, fokal segmental (FSGS) 1,3 Glucocorticoid deficiency Glucose-6-phosphatdehydrogenasedeficiency Glucose transport defect* Glutaric acidemia * Glutathione S-transferase defects* Glycerol kinase Glycogen storage diseases* 1 Granulomatosis, chronic* Greig syndrome Gusher syndrome Haemophilia A* Haemophilia B* Hallervorden-Spatz disease Hemochromatosis Hemolytic uremic syndrome (HUS) 1,2,3 HIV susceptibility* HNF1-b disease (see RCAD) Holocarboxylase synthetase deficiency Holoprosencephaly* Homocystinuria* HPA-1 genotyping* Hydroxymethylbilane synthase* Hyperaldosteronism, familial * Hypercholesterinemia Hypereosinophilic syndrome* Hyperekplexia (KOK disease)* Hyper-IgD syndrome Hyper-IgM syndrome* Hyperinsulinism, congenital* SCN1A IKBKAP GATA1 FGA, FGB, FGG GCH1, TH DYT1 FII FV LMAN1 MEFV MYCN FMR1 FRAS1, FREM2 N ALDOB FBP1 GALT MC2R, MRAP G6PD SLC2A1 GCDH GK GLI3 POU3F4 FVIII PANK2 HFE CCR5, CCR2, CXCL12 HLCS CBS HPA1 HMBS CYP11B1, CYP11B2 FIP1L1, PDGFRA GLRA1 MVK ABCC8, KCNJ11, GLUD1 I J K L M Hyperkalemic periodic paralysis Hyperoxaluria, primary Hyperthyroidism, familial, non autoimmune Hypochondroplasia Hypokalemic periodic paralysis Hypophosphatasia, infantile* Hypophosphatemia* Hypothyroidism Hypoventilation syndrome CACNA1A, ALPL Idiopathic short stature Insulin-like growth factor 1 deficiency (IGF deficiency) Immunodeficiency, severe, combined,, T-cell neg., B-cell pos., NK-cells neg. Ivemark syndrome 2 Jeune syndrome 1,2,3 Kabuki syndrome Kallmann syndrome 1,3 Kartagener syndrome (see ciliary dyskinesia, primary) Kearns-Sayre syndrome* Kell incompatibility* Kniest dysplasia Lafora syndrome Lactose intolerance, congenital Langer, mesomelic dysplasia Laron syndrome Larsen syndrome Lathosterolosis* Leber congenital amaurosis (LCA) 1,2,3 Leber hereditary opticus neuropathy (LHON) LEOPD syndrome Leri-Weil syndrome Lesh-Nyhan syndrome Leukocyte adhesion deficiency FGF23 PHEX IGF1 JAK3 NPHP3 MLL2 MTTL2 KEL EPM2A, NHLRC1 LCT GHR FLNB CHST3 SC5DL mtdna PTPN11 HPRT1 ITGB2 SLC35C1 p53 SCNN1B, SCNN1G Li-Fraumeni syndrome* Liddle syndrome* Lissencephaly* Loeys-Dietz syndrome Long QT syndrome Romano-Ward syndrome 3 Andersen-Tawil syndrome Timothy syndrome Lowe syndrome* Lymphohistiocytosis*, hemophagocytic, familial Lymphoma* Lymphedema * OCRL1 BCL2 FLT4 BCL1 Mantle cell lymphoma* Marfan syndrome FBN1 MASA syndrome* Meckel-Gruber syndrome 1,2,3 Mediterranean fever, familial (FMF) MEFV CMM2, CDKN2A Melanoma* MELAS syndrome* Menkes syndrome* MERRF syndrome* Metaphyseal chondrodysplasia (Schmid type) hot spot analysis complete gene analysis incl. hot spots ATP7A COL10A1 N O Methylentetrahydrofulate reductase Methylmalonic aziduria* Meulengracht syndrome Mikrosatellite analysis (maternal contamination of fetal specimen) Mitochondrial complex II Mitochondrial DNA depletion syndrome* MTHFR MUT SDHA Molybdenum cofactor Morbus Crohn CD15 (CD15 polymorphism) Morbus Fabry Morbus Gaucher* Morbus Gilbert ( promotor, TA insertion) Morbus Krabbe* GALC Morbus Meulengracht Morbus Osler* Morbus Pompe* GAA Morbus Wilson ATP7B MORM syndrome INPP5E Muckle-Wells syndrome Muenke syndrome (see Craniosynostosis) Mucolipidosis* GNPTAB Mucopolysaccharidosis* Multi drug resistance* Multiple exostosis* EXT1, EXT2 Muscular dystrophies Myasthenia syndrome*, CHRNE, CHAT congenital combined with AChR deficiency IFNGR1, IFNGR2 Mycobacteriosis*, familial atypical Myeloproliferative disorders Myoclonic epilepsy severe of infancy Unverricht-Lundborg Myotonia congenita* Myotonic dystrophy Myotubular myopathy,* N-acetyl glutamate synthetase N-acetyltransferase 2 deficiency Nail-Patella syndrome NP syndrome* NDH syndrome Neoplasia, multiple endocrine * A B Nephropathy, familial, juvenile, hyperuricemic Nephronophthisis 1,2,3 Nephrotic syndrome 1,2,3 Netherton syndrome Neurofibromatosis Neuropathies 1,2,3 Neutropenia*, congenital, Nevoid basal cell carcinoma 3 * Nieman-Pick disease* Non small cell lung cancer* Noonan syndrome Norrie syndrome* Obesity Oculocutaneous albinism* A, B Onedine syndrome Ophthalmoplegia* Optic athropy Ornithine transcarbamylase Osteogenesis imperfecta Osteogenesis imperfecta, JAK2 SCN1A CSTB CLCN1 DMPK PROMM MTM1 NAGS NAT2 LXM1B MTATP6 MEN1 SPINK5 NF1 NF2 ELA2 EGFR PTPN11, SOS1 MC4R TYR OCA2 OPA1 OTC

4 P R S Osteopetrosis,* Osteoporosis COL1A1, VDR Otopalatodigital syndrome FLNA (OPD1) (OPD2) Melnick-Needles syndrome (MNS) frontometaphyseal dysplasia (FMD) PAI gene analysis Pancreatitis, hereditary Paramyotonia congenita, of von Eulenberg Parkinson disease* Pelizaeus-Merzbacher disease* Peutz-Jeghers syndrome* Pfeiffer syndrome (see Craniosynostosis) Phenylalanine hydroxylase Pierson syndrome PKD1/TSC 2 microdeletion syndrome Polyposis coli, familial adenomatous (FAP) Polysyndactyly* Polycystic kidney disease 1,2,3 () () Polycystic kidney disease, PAI1 PRSS1, SPINK1, severe infantile, with tuberous sclerosis Pontocellebar hypoplasia Prader-Willi syndrome gene microsatellit analysis UPD(15)mat Primary ciliary dyskinesia Primary hypertrophic Osteoarthropathy (Pachydermoperiostose/Tourraine- Solente-Gole syndrome) Progressive familial intrahepatic cholestasis Propionic acidemia* Protein-C Proteus syndrome* Protoporphyria, erythropoietic* Pseudoachondroplasia* Pyruvate carboxylase Pyruvate dehydrogenase RCAD (Renal Cyst and Diabetes syndrome) Renal agenesis/dysplasia Renal cell carcinoma Renal-Coloboma syndrome Renal cysts Renal-tubular dysgenesia 1,2,3 Retinitis pigmentosa 1,2,3 Retinoblastoma Retinoschisis Rett syndrome Rhesus-(Rh) compatibility* Romano-Ward syndrome 3 Rubinstein-Taybi syndrome* Sandhoff disease Schinzel-Giedeon syndrome Senior-Loken syndrome 1,2,3 Sensenbrenner syndrome Septooptic dysplasia* SESAME syndrome Sialuria* Sickle cell anemia PLP STK11 PAH LAMB2 HOXD13 PKD1 PKD2 PKD1/TSC2 VRK1 DNAH5 DNAI1 PCCA, PCCB PROC FECH COMP PC PDHA1, MET PAX2 RB1 RS1 MECP2 CREBBP HEXB SETBP1 HESX1 KCNJ10 SLC17A5 T U V W X Silver-Rusell syndrome KvDMR1 and H19DMR microsatellite analysis UDP(7)mat Sjögren-Larsson syndrome* Sotos syndrome Spastic paraplegia 3 Spinal bulbar muscular atrophy*, type Kennedy Spinal muscular atrophy (SMA) Spinocerebellar ataxia 3 Spondylocostal dysostosis* Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia, Sterility (Congenital aplasia of vas deferens) Stickler syndrome Succinate dehydrogenase Surfacant dysfunction pulmonary 1 pulmonary 3* pulmonary 4* Tay-Sachs disease Jewish sreening complete gene and HEXB genes T-cell receptor-g rearrangement* Thanatophoric dysplasia Thiopurine methyltransferase deficiency Thrombophilia Thrombotic thrombocytopenic purpura (TTP) Thyroid hormone resistance Timothy syndrome TNF receptor associated periodic fever Treacher-Collins- Franceschetti syndrome* Trimethylaminuria* TSC2/PKD1 microdeletion syndrome Tuberous sclerosis Tyrosinemia* ALDH3A2 SMN1 DLL3 SEDL SDHB, SDHD SFTPB ABCA3 CSF2RB, HEXB TPMT MTHFR ADAMTS13 THR-beta CACNA1C TNFRSF1A TCOF1 FMO3 TSC1 TSC2 disease (see ADMCKD) Uniparental disomy of chromosome: 3 2, 4, 6, 7, 11, 13, 14, 15, 16 USH1: FC-/Acadian Panel USH2: FC-/Acadian Panel Very long chain acyl-coa dehydrogenase Vitamin D resistant rachitis* Vitreoretinopathy, familial exsudative* Von Hippel-Lindau syndrome von Willebrand disease* Waardenburg syndrome 2,3 Warfarin or Coumarin sensitivity* Weaver syndrome Werner syndrome Wilms tumor Wiskott-Aldrich syndrome* Wolfram syndrome Xanthinuria hydrocephalus* lymphproliferative syndrome* sideroblastic anemia* ACADVL TSPAN12, VHL VWF VKORC1 RECQL2 WAS CISD2 XDH SH2D1A ALAS2 Others sideroblastic anemia and Ataxia* ABCB

5 MOLECUL GENETIC ANALYSES (by disease groups) Copyright bioscientia j Reproduction prohibited Blood disorders Afibrinogenemia, congenital* Alpha thalassemia* Beta thalassemia* Diamond-Blackfan anemia* Dyserythropoietic anemia with thrombocytopenia* Dysfibrinogenemia, congenital 3 Factor II deficiency Factor V-Leiden mutation Factor V- and Factor VIII deficiency, combined Factor X deficiency Haemophilia A* Haemophilia B* HPA-1-genotyping* Kell incompatibility* Neutropenia*, congenital, PAI gene analysis Rhesus (Rh) incompatibility* Sickle cell anemia Thrombophilia Thrombotic thrombocytopenic purpura (TTP) von Willebrand disease* Warfarin or Coumarin sensitivity* Wiskott-Aldrich syndrome* sideroblastic anemia* sideroblastic anemia and Ataxia* Cancer/Leukemia/Tumor Acute lymphoblastic leukemia* (ALL) Acute myeloid leukemia* (AML) Bannayan-Riley- Ruvalcaba syndrome* BCR/ABL (chronic myeloid leukemia) Breast/Ovarian cancer* Burkitt lymphoma* Chronic lymphatic leukemia (CLL)* Colon carcinoma non polyposis associated, familial (HNPCC)* poliposis coli, familial adenomatous Cowden syndrome* Ewing sarcoma, t(11;22) translocation* Fanconi anemia* Li-Fraumeni syndrome* Lymphoma* Mantle cell lymphoma* Melanoma* Myeloproliferative disorder Neoplasia, multiple endocrine * A B Neurofibromatosis Nevoid basal cell carcinoma 3 * Non small cell lung cancer* Peutz-Jeghers syndrome* Proteus syndrome* Renal cell carcinoma Retinoblastoma Tuberous sclerosis Von Hippel-Lindau syndrome Wilms tumor lymphoproliferative syndrome* FGA, FGB, FGG HBA RPS19 GATA1 FGA, FGB,FGG FII FV LMAN1 FVIII HPA1 KEL ELA2 PAI1 METHFR ADAMTS13 VWF VKORC1 WAS ALAS2 ABCB7 BCR/ABL BRCA1, BRCA2 MYC IgVH MLH1, MSH2 EWS p53 BCL2 BCL1 CMM2, CDKN2A JAK2 MEN1 NF1 NF2 EGFR STK11 MET RB1 TSC1 TSC2 VHL SH2D1A Cardiac disorders Angiotensin I converting enzyme ACE Brugada syndrome SCN5A Long QT syndrome Romano-Ward syndrome 3 Andersen-Tawil syndrome Timothy syndrome Chromosome instability Fanconi anemia* Connective tissue disorders Alpha-1 antitrypsin deficiency Ehlers-Danlos syndrome 1 Surfacant dysfunction pulmonary 1 pulmonary 3* pulmonary 4* Deafness Auditory neuropathy BOR syndrome1,3 Gusher syndrome SANDD syndrome SESAME syndrome Deafness, 1,2,3 Pendred syndrome Deafness, 1,2,3 Waardenburg syndrome 2,3 Dementia Alzheimer disease* familial, familial, type 3 Dentato-Rubro-Pallido- Luysiane atrophy* Endocrinology Androgen insensivity syndrome* Apparent mineralcorticoid excess Diabetes, (MODY) 3 Maturity Onset Diabetes of the Young Diabetes insipidus Diabetes mellitus, neonatal with congenital hypothyreodism Glucocorticoid deficiency Hyperinsulinism, congenital* Hyperthyroidsm, familial, non autoimmune Hypothyroidsm Insulin like growth factor 1 deficiency (IGF deficiency) Kallmann syndrome 1,3 Laron syndrome Lathosterolosis* Liddle syndrome NDH syndrome Thyroid hormone resistance Vitamin D resistent rachitis* Wolfram syndrome Epigenetic disorders Angelman syndrome microsatellite analysis UPD(15)pat sequence analysis UBE3A Beckwith-Wiedemann syndrome KvDMR1 and H19-DMR microsatellite analysis UPD(11)pat sequence analysis CDKN1C SERPINA1 SFTPB ABCA3 CSF2RB POU3F4 CACNA1D KCNJ10 GJB2/Cx26 GJB6/Cx30 SLC26A4, FOXI1 APP PSEN1 ATN1 HSD11B2 MC2R, MRAP ABCC8, KCNJ11, GLUD1 IGF1 GHR SC5DL SCNN1B, SCNN1G THR-beta CISD2 UBE3A CDKN1C Prader-Willi syndrome gene microsatellit analysis UPD(15)mat Silver-Rusell syndrome KvDMR1 and H19DMR microsatellite analysis UDP(7)mat Uniparental disomy of chromosome: 3 2, 4, 6, 7, 11, 13, 14, 15, 16 Epilepsy Aristaless-gene-related disorders* X Epilepsies Lafora syndrome EPM2A, NHLRC1 Myoclonic epilepsy severe, of infancy SCN1A Unverricht-Lundborg CSTB Eye (retinal) disorders Aniridia Coats disease* Congenital stationary night blindness Corneal dystrophy Glaukoma* Leber congenital amaurosis (LCA) 1,2,3 Leber hereditary optic neuropathy (LHON) Lowe syndrome* Norrie syndrome* Oculocutaneous albinism* A, B Ophthalmoplegia* Retinitis pigmentosa 1,2,3 Retinoschisis (see Usher syndrome) Vitreoretinopathy, familial exsudative* Gastroenterologic disorders Alagille syndrome Byler disease Chloride diarrhea, familial* Crigler-Najjar syndrome Cystic fibrosis 3 most common mutations with OLA Middle-East-Panel Morbus Crohn (CD15 polymorphism) Morbus Gilbert Pancreatitis, hereditary Peutz-Jeghers syndrome* Polyposis coli, familial adenomatous (FAP) Progressive familial intrahepativ Cholestasis Immune system disorders Agammaglobulinemia, * Autoimmune lymphoproliferative syndrome * Autoimmune polyendocrine syndrome A* Granulomatosis, chronic* Hypereosinophilic syndrome* Hyper-IgD syndrome Hyper-IgM syndrome* Immunodeficiency, severe, combined;, T-cell neg., B-cell pos., NK-cells neg. Leukocyte adhesion deficiency PAX6 DCN mtdna OCRL1 TYP OCA2 RS1 TSPAN12. JAG1 ATP8B1 SLC26A3 CD15 PRSS1, SPINK1, STK11 BTK TNFRSF6 AIRE FIP1L1, PDGFRA MVK JAK3 ITGB2 SLC35C

6 Lymphohistiocytosis*, hemophagocytic, familial Lymphoma* Muckle-Wells syndrome Neutropenia*, congenital, T-cell receptor-g rearrangement* Infection HIV susceptibility* Mycobacteriosis*, familial atypical Infertility Azoospermia* Cystic fibrosis 3 most common mutations with OLA Middle-East-Panel Kallmann syndrome 1,3 Kartagener syndrome (see primary ciliary dyskinesia) Primary ciliary dyskinesia Sterility (congenital aplasia of vas deferens) Inflammation CINCA syndrome Familial mediterranean fever (FMF) Hyper-IgD syndrome TNF receptor associated periodic fever Kidney disorders ADMCKD ( medullary cystic kidney disease) ADPKD Alport-like syndrome (Epstein/Fechtner), PKD BOR syndrome 1,3 Cystinosis* Denys-Drash syndrome Diabetes insipidus Frasier syndrome Glomerulosclerosis, fokal segmental (FSGS) 1,3 Hemolytic uremic syndrome (HUS) 1,3 HNF1-b disease (see RCAD) Hyperoxaluria, primary Ivemark syndrome 2 Meckel-Gruber syndrome 1,2,3 Morbus Fabry Nail-Patella syndrome Nephropathy, familial, juvenile hyperuricemic Nephronophthisis 1,2,3 Nephrotic syndrome 1,2,3 PKD1/TSC 2 microdeletion syndrome Polycystic kidney disease 1,2,3 () () Polycystic kidney disease, severe infantile, with tuberous sclerosis RCAD (Renal Cysts and Diabetes syndrome) Renal agenesis/dysplasia Renal-Coloboma syndrome Renal cysts Renal-tubular dysgenesis 1,2,3 Senior-Loken syndrome 1,2,3 Sialuria* ELA2 CCR5, CCR2, CXCL12 IFNGR1, INFGR2 USP9Y DNAH5 DNAI1 MEFV MVK TNFRSF1A PKD1, PKD2 MYH9 COL4A5 COL4A3, COL4A4 CTNS NPHP3 LMX1B PKD1 PKD2 PKD1/TSC2, PAX2 SLC17A5 Tuberous sclerosis TSC2/PKD1 microdeletion syndrome disease (see ADMCKD) Makrosomia/Giantism Beckwith-Wiedemann syndrome KvDMR1 and H19-DMR microsatellite analysis UPD(11)pat sequence analysis CDKN1C Sotos syndrome Weaver syndrome Malformation syndromes Alagille syndrome Antley-Bixler syndrome* BOR syndrome 1,3 CHGE syndrome COACH syndrome Cornelia-De-Lange syndrome* CORS syndrome Costello syndrome* Denys-Drash syndrome Ellis-van-Creveld syndrome Feingold syndrome* Greig syndrome Ivemark syndrome 2 Jeune syndrome 1,2,3 LEOPD syndrome Meckel-Gruber syndrome 1,2,3 MORM syndrome Schinzel-Giedeon syndrome Mental retardation Alexander disease* Angelman syndrome microsatellite analysis UPD(15)pat sequence analysis UBE3A Antley-Bixler syndrome* Aristaless-gene-related disorders* Canavan syndrome* Fragile X syndrome Fraser syndrome* Holoprosencephaly* Kabuki syndrome Lissencephaly* Rett syndrome Metabolic disorders Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Alkaptonuria* Alpha galactosidase deficiency (Morbus Fabry) Apolipoprotein B Apolipoprotein E Arginase Argininosuccinate lyase Argininosuccinate synthetase Aromatic L-aminoacid decarboxylase Atypical PKU* (Tetrahydropterin, BH4 deficiency) Butyrylcholinesterase Carnitine, systemic primary transferase I transferase II Catechol-O methyltransferase activity Congenital disorder of glycosylation a* TSC1 TSC2 CDKN1C JAG1 CHD7 NIPBL HRAS EVC1, EVC2 MYCN GLI3 NPHP3 PTPN11 INPP5E SETBP1 GFAP UBE3A X ASPA FMR1 FRAS1, FREM2 MLL2 MECP2 CYP21A2 HGD APOB APOE G1 ASL ASS1 DDC BCHE SLC22A5 CPT1 CPT2 COMT PMM2 Dihydropteridine reductase QDPR deficiency DPD deficiency DPYD (Dihydropyrimidindehydrogenase deficiency) Fatty acid oxidation disorder (Acylcarnitine profile)* Fructose intolerance, hereditary Fructose-1,6-bisphosphatase Glucose-6 phosphat dehydrogenase deficiency Glucose transport defect* Glutaric acidemia * Glutathione S-transferase defects* Glycerol kinase Holocarboxylase synthetase Homocystinuria* Hydroxymethylbilane synthase* Hyperaldosteronism, familial * Hypercholesterinemia Lactose intolerance, congenital Methylentetrahydrofulate reductase Methylmalonic aciduria* Meulengracht syndrome Molybdenum cofactor Morbus Gaucher* Morbus Gilbert (promotor, TA insertion) Morbus Krabbe* Morbus Meulengracht Morbus Osler* N-acetyl glutamate synthetase Obesity Ornithine transcarbamylase Phenylalanine hydroxylase Propionic acidemia* Protoporphyria, erythropoietic* Pyruvate carboxylase Pyruvate dehydrogenase Sialuria* Succinate dehydrogenase Thiopurine methyltransferase Trimethylaminuria* Tyrosinemia* Very long chain acyl-coa dehydrogenase Xanthinuria Mitochondriopathies Kearns-Sayre syndrome* Leber hereditary opticus neuropathy (LHON) MELAS syndrome* MERRF syndrome* Mitochondrial complex II Mitochondrial DNA depletion syndrome* Neuromuscular disorders Muscular dystrophies Myotonia congenita* Myotonic dystrophy Myotubular myopathy,* Paramyotonia congenita, of von Eulenberg Neurology/Neuropathies Ataxia, 3 Ataxia with isolated Vitamin E Ataxia with oculomotor apraxia 1* Chorea Huntington* Dentato-Rubro-Pallido- Luysiane atrophy* ALDOB FMP1 G6PD SLC2A1 GCDH GK HLCS CBS HMBS CYP11B1, CYP11B2 LCT MTHFR MUT GALC NAGS MC4R OTC PAH PCCA, PCCB FECH PC PDHA1 SLC17A5 SDHB, SDHD TPMT FMO3 ACADVL XDH MTTL2 mtdna SDHA CLCN1 DMPK PROMM MTM1 SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 TPPA APTX HTT ATN

7 Dysautonomia, familial (Riley-Day syndrome) Dystonia (DOPA responsive) Dystonia (torsion 1, ) Friedreich ataxia* Hallervorden-Spatz disease Hyperekplexia (KOK disease)* Hyperkalemic periodic paralysis Hypokalemic periodic paralysis Hypoventilation syndrome Lafora syndrome Lesh-Nyhan syndrome MASA syndrome* Menkes syndrome* Myasthenic syndrome*, congenital combined with AChR deficiency Myoklonic epilepsy severe of infancy Unverricht-Lundborg NP syndrome* Neuropathies 1,2,3 Onedine syndrome Parkinson disease* Pelizaeus-Merzbacher disease* Pontocellebar hypoplasia Rett syndrome Spastic paraplegies 3 Spinal bulbar muscular atrophy*, type Kennedy Spinal muscular atrophy (SMA) Spinocerebellar ataxies 3 hydrocephalus* Pharmacogenetics Short stature Cytochrome P450 defects DPD deficiency DPYD (Dihydropyrimidindehydrogenase deficiency) Multi drug resistance* N-acetyltransferase 2 deficiency NAT2 Cockayne syndrome* Costello syndrome* Idiopathic short stature Insulin like growth factor 1 deficiency (IGF deficiency) Langer, mesomelic dysplasia Laron syndrome Leri-Weill syndrome Noonan syndrome Silver-Rusell syndrome KvDMR1 and H19DMR microsatellite analysis UDP(7)mat Skeletal disorders Achondrogenesis Achondroplasia Acromesomelic dysplasia, type Grebe Acromesomelic dysplasia, NPR2 type Maroteaux Apert syndrome (see Craniosynostosis) Arthrogryposis multiplex TPM2, TNNI2 congenita* Brachydactyly type C Campomelic dysplasia* SOX9 Chondrodysplasia, type Grebe Cleidocranial dysplasia RUNX2 Clubbing of digits Cranioectodermal dysplasia Craniosynostosis, FGFR1, FGFR2, FGFR associated Crouzon syndrome (see Craniosynostosis) Cystinuria* Desbuquois syndrome Ektrodactyly (EEC syndrome)* Hypochondroplasia Hypophosphatasia, infantile* IKBKAP GCH1, TH DYT1 N PANK2 GLRA1 CACNA1A, EPM2A, NHLRC1 HPRT1 ATP7A CHRNE, CHAT SCN11A CSTB MTATP6 PLP VRK1 MECP2 SMN1 ERCC8, ERCC6 HRAS IGF1 GHR PTPN11, SOS1 CANT1 TP63 ALPL Hypophosphatemia* Kniest dysplasia Langer, mesomelic dysplasia Larsen syndrome Leri-Weill syndrome Loeys-Dietz syndrome Marfan syndrome Metaphyseal Chondrodysplasia (type Schmid) hot spot analysis complete gene analysis incl. hot spots Multiple exostosis* Nail-Patella syndrome Osteogenesis imperfecta Osteogenesis imperfecta, Osteopetrose,* Osteoporosis Otopalatodigital syndrome (OPD1) (OPD2) Melnick-Needles syndrome (MNS) frontometaphyseal dysplasia (FMD) Pfeiffer syndrome (see Craniosynostosis) Polysyndactyly* Pseudoachondroplasia* Rubinstein-Taybi syndrome* Sensenbrenner syndrome Spondylocostal dysostosis* Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia, Stickler-syndrome Thanatophoric dysplasia Treacher-Collins- Franceschetti syndrome* Skin and nail disorders Anonychia Bloch-Sulzberger syndrome* (Incontinentia pigmenti, IP2) Ectodermal dysplasia * Epidermolysis bullosa Netherton syndrome Neurofibromatosis Primary hypertrophic Osteoarthropathy (Pachydermoperiostose/Tourraine- Solente-Gole syndrome) Sjögren-Larsson syndrome* Werner syndrome Storage disorders Arylsulfatase A Ceroid lipofuscinosis, neural (all types) Fabry disease Gaucher disease* Glycogen storage diseases* 1 Hemochromatosis Hallervorden-Spatz disease Morbus Krabbe* Morbus Pompe* Morbus Wilson Mucolipidosis* Mucopolysaccharidosis* Nieman-Pick disease* Sandhoff disease Tay-Sachs disease Jewish screening complete gene and HEXB genes Very long chain acyl-coa dehydrogenase FGF23 PHEX FLNB CHST3 FBN1 COL10A1 EXT1, EXT2 LMX1B COL1A1, VDR FLNA HOXD13 COMP CREBBP DLL3 COL2A2 SEDL COL2A2 TCOF1 RSPO4 IKBKG EDA SPINK5 NF1 NF2 ALDH3A2 RECQL2 SA HFE PANK2 GAA ATP7B GNPTAB HEXB, HEXB ACADVL Usher syndrome USH1: FC-/Acadian Panel USH2: FC-/Acadian Panel Vasculopathies CADASIL Lymphedema * 1 We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us. 2 We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested. 3 Stepwise analysis NOTCH3 FLT4 *Analyses are carried out in collaborating certified labs

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