COMPLETE LIST OF GENETIC ANALYSES

Transcription

1 Aarskog-Scott syndrome Achondroplasia Achromatopsia Acromesomelic dysplasia, Maroteaux type Adenosine deaminase deficiency Adrenoleukodystrophy Aicardi-Goutieres syndrome Alagille syndrome Albinism Alkaptonuria Alpha-1-antitrypsin Alport syndrome Alzheimer disease Amyloidosis Anderson-Fabry disease Anhidrotic ectodermal dysplasia Aniridia APECED syndrome Apert syndrome FGD1 gene FGFR3 G320R mutation NGS panel of 5 genes NPR2 gene ADA gene ABCD1 gene NGS panel of 5 genes NGS panel of 2 genes TYR gene NGS panel of 5 genes HGD gene SERPINA1 gene PSEN1, PSEN2 and APP genes late onset AD2 APOE E2,E3,E4 TTR gene GLA gene IKBKG gene PAX6 gene AIRE gene Two most common mutations of FGFR2 gene

2 Apolipoprotein Ε Aromatase deficiency Arthrogryposis Ataxia-telangiectasia Autism Autosomal dominant medullary cystic kidney disease Bardet Biedl syndrome Beckwith-Wiedemann syndrome Blepharophimosis Brugada syndrome (types 1,2,3,4) Alleles ApoE: E2, E3, E4 CYP19A1 gene NGS panel of 6 genes ATM gene AutismScreen - NGS panel of 101 genes UMOD gene NGS panel of 8 genes Deletions, duplications and methylation of 11p15 region FOXL2 gene NGS panel of 8 genes OncoNext Risk Complete - NGS panel of 81 genes Breast cancer - OncoNext Risk Breast Ovarian & Uterine cancer - OncoNext Risk Ovary & Uterus Colon cancer - OncoNext Risk Colon Gastric cancer - OncoNext Risk Gastric Cancer - Hereditary types Prostate cancer - OncoNext Risk Prostate Pancreatic cancer - OncoNext Risk Pancreas Kidney Cancer - OncoNext Risk Renal Brain Cancer - OncoNext Risk Brain Melanoma - OncoNext Risk Melanoma Feocromocitoma or paraganglioma - OncoNext Risk PGL/PCC

3 OncoNext Liquid Monitor Breast OncoNext Liquid Monitor Colon Cancer - Liquid biopsy OncoNext Liquid Monitor Lung OncoNext Liquid Monitor 15 genes OncoNext Liquid Monitor 23 genes OncoNext Liquid Monitor 50 genes Cancer - Tissue biopsy Cardiovascular disease Cerebellar ataxia Molecular analysis of tissue biopsy - OncoNext Tissue 15 genes Molecular analysis of tissue biopsy - OncoNext Tissue 23 genes Molecular analysis of tissue biopsy - OncoNext Tissue 50 genes Cardiovascular disease risk prediction (12 mutationspolymorphisms) CardioScreen - Analysis of 43 genes related with hereditary cardiomyopathies CardioScreen - Analysis of 158 genes related with hereditary cardiomyopathies and sudden cardiac arrest SETX gene Cerebral Amyloid Angiopathy NGS panel of 2 genes (APP, CST3) Χ-linked type (GJB1 gene) Charcot-Marie-Tooth disease type 1A (PMP22 gene) NGS panel of 48 genes Cleidocranial dysplasia RUNX2 gene Congenital adrenal hyperplasia CYP21A2 gene Congenital adrenal hypoplasia NR0B1 gene Congenital disorder of glycosylation NGS panel of 13 genes Cornelia de Lange syndrome NGS panel of 5 genes

4 Crigler-Najjar syndrome Crohn disease Cryptorchidism UGT1A1 gene NGS panel of 10 genes F508del mutation Cystic fibrosis Cystinuria Darier disease 52 most common CFTR gene mutations-cftr gene exon deletions & duplications CFTR gene NGS analysis-cftr gene exon deletions & duplications NGS panel of 2 genes ATP2A2 genes Diabetes Diamond Blackfan anemia Dopa-responsive dystonia Dravet syndrome Duchenne-Becker muscular dystrophy Ectrodactyly Ehlers-Danlos syndrome Epidermolysis bullosa Epilepsy NGS panel of 39 genes Maturity onset diabetes of the young (NGS panel of 13 genes ) RPS19 gene NGS panel of 9 genes NGS panel of 6 genes NGS panel of 8 genes DMD gene deletions & duplications DMD gene NGS panel of 8 genes NGS panel of 26 genes NGS panel of 2 genes (KRT5 & KRT14) Epileptic encephalopathy (NGS panel of 49 genes) Myoclonic epilepsy MELF - Lafora disease (EMP2A gene)

5 Epilepsy Estrogen receptor Familial hypercholesterolemia Familial mediterranean fever Early infantile epileptic encephalopathy - Dravet syndrome (NGS panel of 8 genes) Generalized epilepsy with febrile seizures (NGS panel of 35 genes) Most common mutations of ESR1 gene LDLR, PCSK9 genes & APOB R3500 mutation Most common MEFV gene mutations MEFV gene Fanconi anemia specific karyotype Fanconi anemia FANCA gene deletions NGS panel of 15 genes associated with Fanconi anemia Fragile Χ syndrome Friedriech ataxia Frontotemporal dementia Galactosemia Gangliosidosis Gaucher disease GeneScreen Gilbert syndrome Glanzmann thrombasthenia Goltz-Gorlin syndrome FRAXA gene (complete analysis) FRAXΕ gene (premutation analysis) FRDA gene NGS panel of 7 genes GALT gene GLB1 gene The most common mutations of GBA gene GBA gene sequencing NGS analysis of 700 hereditary diseases Γονίδιο UGT1A1*28 (7TA) NGS panel of 2 genes

6 Growth hormone deficiency Hearing loss-deafness Hemochromatosis Non syndromic recessive hearing loss-gjb2 35delG mutation (connexin 26) Non syndromic recessive hearing loss-gjb2 gene sequencing (connexin 26) Non syndromic recessive hearing loss-gjb6 gene screening (connexin 30) Hereditary and syndromic deafness (Alport, Bartter, Bor, Charge, Jervell/Lange-Nielsen, Mohr-Traenejaerg, Jensen, Ensen, Norrie, Pendred, Stickler, Treacher Collins, Usher, Waardenburg syndromes) NGS panel of 68 genes 19 mutations in HFE, TFR2, FPN and HJV genes Hemolytic-uremic syndrome NGS panel of 7 genes Inversion of intron 22 of F8 gene Hemophilia Factor VIII (F8) - F8 gene sequencing Factor IX (F9) Hereditary amyloidosis TTR gene Hereditary hemorrhagic telangiectasia Hereditary melanoma CDKN2A gene (p16) Hereditary multiple exostoses Hereditary neuropathy with liability to pressure palsies Hereditary spherocytosis NGS panel of 2 genes PMP22 gene Hirschsprung disease Holoprosencephaly NGS panel of 9 genes Holt-Oram syndrome NGS panel of 2 genes HPV Molecular genotyping of Human Papilloma Virus Huntington disease ΗΤΤ gene

7 Hypochondroplasia Hypophosphatasia Hypophosphatemic rickets Idiopathic hypereosinophilic syndrome Iris coloboma JAK2 gene Jeune syndrome Joubert syndrome Kallmann syndrome FGFR3 gene ALPL gene NGS panel of 6 genes NGS panel of 2 genes PAX6 gene V617F mutation NGS panel of 21 genes NGS panel of 10 genes Conventional karyotype (Peripheral bood) Couple conventional karyotype Amniotic fluid cells Karyotype Chorionic villi cells Product of conception Fetal blood Molecular karyotype(array CGH) High-resolution molecular karyotype (array CGH) Lactic Acidosis and Pyruvate Metabolism Leber congenital amaurosis Leigh syndrome Lesch-Nyhan syndrome Leukodystrophy and peroxisome biogenesis disorders NGS panel of 69 genes NGS panel of 17 genes NGS panel of 25 genes HPRT1 gene NGS panel of 38 genes

8 Lissencephaly Long QT syndrome Lysosomal storage disorders NGS panel of 12 genes NGS panel of 60 genes Υ-chromosome microdeletions Male infertility Marfan syndrome Marinesco-Sjogren syndrome Meckel-Gruber syndrome Melanoma (predisposition panel) Microcephaly Conventional karyotype, Cystic fibrosis (52 most common CFTR gene point mutations-cftr gene exon deletions & duplications), Υ-chromosome microdeletions NGS panel of 15 genes SIL1 gene NGS panel of 10 genes NGS panel of 6 genes Microcephaly and pontocerebellar hypoplasia (NGS panel of 22 genes) DiGeorge, Sotos, Rubinstein-Taybi and NF1 Williams, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis and RETT Microdeletion syndromes Migraine Mitochondrial diseases Mitochondrial encephalopathy & Leigh syndrome Morris syndrome - Androgen insensitivity syndrome 1q21.1-TAR, 2p16.1, 15q13.3, 16p11 and 17q12 2p16, Langer-Giedion region 8q24, 9q22.3, WAGR syndrome 11p13, 15q24 and 17q p36, 3q29, Cri du Chat, Wolf-Hirschhorn region and 22q13 Phelan-McDermid 1q21.1- TAR, 3q29, 7q36.1, 12p11.23, 15q13, 15q24.1, 16p11, 17q12, 18q21.2, and 20p12.2 NGS panel of 7 genes NGS panel of 100 genes NGS panel of 62 genes AR gene

9 Moyamoya disease NGS panel of 2 genes Type ΙΙΙΑ (SGSH gene) Mucopolysaccharidoses Type ΙΙΙΒ (NAGLU gene) Type IVB (GLB1 gene) Type VI (ARSB gene) Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 Muscular dystrophy Myopathy (congenital) Nephronophthisis Nephrotic syndrome Nephrotic syndrome Netherton syndrome Neurofibromatosis type 1 Niemann-Pick disease Non syndromic mental retardation Noonan, Leopard & Costello syndromes NutriNext 'Health & Wellness' MEN1 gene Most common mutations of RET gene RET gene DMPK gene (DM1) ZNF9 gene (DM2) NGS panel of 17 genes NGS panel of 10 genes Finnish type (NPHS1 gene) NPHS2 gene SPINK5 gene NF1 gene Type Α and Β (SMPD1 gene) Τype C (NPC1 & NPC2 genes) NGS panel of 20 genes NGS panel of 14 genes Weight control Cardiovascular function & weight control

10 Bone health Ηomocysteine metabolism NutriNext 'Health & Wellness' Inflammatory response Antioxidant stress (Anti-aging) Health & wellness (complete screening) Genetic predisposition to celiac disease Sensitivty to caffeine Lactose intolerance NutriNext 'Sensitivity & Intolerance' Fructose intolerance Sensitivity to alcohol Sensitivity to nickel Sensitivity to sulphite salts Sensitivity and Intolerance (complete screening) Osteogenesis imperfecta Osteopetrosis Parkinson disease NGS panel of 11 genes NGS panel of 9 genes Autosomal dominant and recessive inheritance (NGS panel of 8 genes) Parkinson disease with dystonia (NGS panel of 5 genes) Atypical form (NGS panel of 10 genes) Pendred syndrome Periodic fever syndromes Polycystic kidney disease Autosomal recessive inheritance (PKHD1 gene) Autosomal dominant inheritance (PKD1, PKD2 genes)

11 Porphyria Preimplantation genetic diagnosis for chromosomal abnormalities (PGS) NGS panel of 7 genes Screening of all chromosomes by a-cgh Rapid detection of 13, 18, 21, X and Y chromosomal aneuploidies (QF-PCR) Known parental mutations Prenatal testing - invasive Conventional karyotype, QF-PCR, Cystic fibrosis- F508del Molecular karyotype, QF-PCR, Cystic fibrosis-f508del Molecular karyotype, Cystic fibrosis-50 most common CFTR gene mutations, spinal muscular atrophy PrenatalScreen -NGS panel of 744 genes PrenatalSafe 3 (chromosomes 21, 18, 13) PrenatalSafe 5 (chromosomes 21, 18, 13, X, Y) PrenatalSafe Plus (chromosomes 21, 18, 13, Χ, Υ- trisomies of 9 and 16 chromosomes-6 microdeletion syndromes) PrenatalSafe Karyo (all chromosomes) Prenatal testing - non invasive (NIPT) PrenatalSafe Karyo Plus (all chromosomes-9 microdeletion syndromes) GeneSafe Inherited GeneSafe De Novo GeneSafe Complete (De Novo & Inherited) PrenatalSafe Complete (PrenatalSafe Karyo & GeneSafe Complete ) PrenatalSafe Complete Plus (PrenatalSafe Karyo Plus & GeneSafe Complete ) Primary ciliary dyskinesia Recurrent pregnancy loss Retinoblastoma NGS panel of 8 genes Conventional karyotype, thrombophilia risk assessment (Analysis of 12 mutations-polymorphisms) RB1 gene

12 Retinitis pigmentosa (NGS panel of 137 genes) Retinopathy Macular degeneration (CFH gene) Cone-rod dystrophy (NGS panel of 30 genes) Vitreoretinipathy - Wagner syndrome (NGS panel of 6 genes) Rett syndrome Rubisten-Taybi syndrome Sandhoff syndrome Short stature Shwachman Diamond syndrome Smith-Lemli-Opitz syndrome Spastic paraplegia Spinal and bulbar muscular atrophy (Kennedy disease) MECP2 gene CREBBP gene HEXB gene NGS panel of 12 genes SBDS gene DHCR7 gene NGS panel of 32 genes AR gene Spinal muscular atrophy SMN1 & SMN2 (exons 7 & 8) Spinocerebellar ataxia SCA 1,2,3,6,7 Spinocerebellar atrophy Stargardt disease STD Stickler syndrome PRKCG gene Molecular detection of 10 sexually transmitted diseases: Chlamydia trachomatis, Neisseria gonorrhoeae, Ureaplasma parvum / urealyticum, Mycoplasma genitalium / hominis, Herpes simplex 1, Herpes simplex 2, Treponema pallidum, Trichomonas vaginalis NGS panel of 5 genes Subtelomeric deletions and duplications Tay-Sachs disease HEXA gene

13 β-thalassemia and sickle cell anemia Thalassemia δβ-thalassemia α-thalassemia FV G1691A (Leiden), PTH G20210A and MTHFR C677T mutations FV G1691A (Leiden) and FV H1299R (R2) mutations Thrombophilia MTHFR C677T and MTHFR A1298C mutations PTH G20210A mutation Factor PAI-1 4G/5G Risk assessment - Analysis of 12 mutationspolymorphisms Thyroid hormone receptors Tooth agenesis THRA & THRB genes NGS panel of 6 genes TP53 gene Complete gene sequencing Treacher Collins syndrome Tuberous sclerosis Uniparental disomy (UPD) - Family test Usher syndrome Vitamin D receptor Von Gierke disease - Glycogen storage disease type IA Von Hippel-Lindau syndrome Von Willebrand factor TSC1 & TSC2 genes Chromosomes 7, 11, 14, 15, 22 and Prader-Willi, Angelmann, Beckwith- Wiedemann, Silver-Russel syndromes NGS panel of 12 genes VDR gene G6PC gene VHL gene VWF gene

14 Waardenburg syndrome Warburg syndrome Weaver syndrome NGS panel of 6 genes RAB3GAP1 gene EZH2 gene Gold - Solo Whole Exome Sequencing Gold - Trio Platinum - Solo Platinum - Trio Wilson disease ATP7B gene Wiskott-Aldrich syndrome WAS gene X-linked mental retardation X-linked Retinoschisi NGS panel of 12 genes NGS panel of 92 genes RS1 gene