A

Achondroplasia (FGFR3 gene) Alzheimer - early onset - PSEN1 gene Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping Alpha-1-Antitrypsin deficiency (PI gene) Androgen Receptor - CAG repeats Aromatase (p450 gene) Androgen Receptor (AR gene) Angiotensin Converting Enzyme (ACE) AUTOIMMUNITY (ANA, ENA, ASMA, LAC, ACA, AOA, ATGA, APA) Adrenoleukodystrophy (ALD)-ABCD1 ApoB (R3500Q)) Genotyping APOA1 (Apolilipoprotein A) Apolipoprotein C3 (APOC3) - T3206G Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping Apolipoprotein C3 (APOC3): T3206G Apolipoprotein C3 (APOC3): T3175G ACE Apolipoprotein C3 (APOC3): T3175G AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE (IGHM) Amyloidosis (TTR) Albinism, oculocutaneous 1 (TYR) Alzheimer - early onset - PSEN2 gene AROMATASE - deficiency (p450) ANDROGEN INSENSITIVITY SYNDROME (AR) ADRENAL HYPOPLASIA, CONGENITAL - AHC (DAX1) AMYOTROPHIC LATERAL SCLEROSIS 1 (SOD1) APOPTOSI - TEST (TUNEL TEST) ANTI SPERM ANTIBODIES (ASA) AUTOIMMUNITY (ANA, ENA, ASMA, LAC, ACA, AOA, ATGA, APA) ANTIPHOSPHOLIPID ANTIBODIES (ACA, APA, LAC) APOA1 (Apolilipoprotein A) APO E (E2 E3 E4 ) Apolipoprotein E ADRA2B ADRB1 ANGIOTENSIN CONVERTING ENZIME (ACE) AGT ADRB2 - ( Gln27Glu) ADRB3 ANDROGEN RECEPTOR (AR) AROMATASE - CYP19A1 (1558C>T) APO B (R3500Q ) Apolipoprotein C3 (APOC3): T3175G AFP (dosage) Alzheimer - screening 7 polymorphisms Alzheimer - screening 7 polymorphisms ALPHA-2B-ADRENERGIC RECEPTOR - ADRA2B: Ins>Del Codon 299 ALPHA-1-ANTICHYMOTRYPSIN (AACT): -51 G-T APOA1 (Apolilipoprotein A): -75 G>A Apolipoprotein B (Apo B): R3500Q Apolipoprotein C3 (APOC3) - T3206G Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping ALPHA-2B-ADRENERGIC RECEPTOR - ADRA2B: Ins>Del Codon 299 ANIRIDIA (PAX6) Actin myopathy (ACTA1) Alagille syndrome (JAG1) Alzheimer disease type 1, early onset familial (APP) adenosine deaminase deficiency (ADA) Autism Array-CGH Array-CGH images Array-CGH chip Array-CGH: Images 2

B

BRCA1 - Breast and Ovarian cancer Predisposition Test Becker Muscular Dystrophy (DMB) Bruton tyrosine kinase (BTK gene) - Bruton disease Beta Fibrinogen (FGB): -455G-A polymorphism Bordetella pertussis - Qualitative test BLOOM SYNDROME (BLM) BRCA2 - Breast and Ovarian cancer Predisposition Test BETA-1-ADRENERGIC RECEPTOR - ADRB1: Gly389Arg BETA-2-ADRENERGIC RECEPTOR - ADRB2 - Gly16Arg BETA-2-ADRENERGIC RECEPTOR - ADRB2 - Gln27Glu  BETA-2-ADRENERGIC RECEPTOR - ADRB2 - Gln27Glu  BETA-1-ADRENERGIC RECEPTOR - ADRB1: Gly389Arg BETA-2-ADRENERGIC RECEPTOR - ADRB2 - Gly16Arg BETA-3-ADRENERGIC RECEPTOR - ADRB3: Trp64Arg blepharophimosis - ptosis - epicanthus inversus syndrome (BEPS): FOXL2 gene Beckwith-Wiedemann syndrome (CDKN1C) Bartter syndrome type 1 (KCNJ1)

C

Cistic Fibrosis - 100 mutations screening (CFTR) CMV - Citomegalovirus - Qualitative test Chromosome Y deletion Chlamydia Trachomatis - Qualitative test Come si esegue la PGD Cistic Fibrosis - 33 mutations + 5Tpolymorphism screening (CFTR) Cistic Fibrosis - 200 mutations screening (CFTR) Cistic Fibrosis - total CFTR gene screening Congenital Adrenal Hypoplasia - AHC (DAX1 gene) COLLAGEN, TYPE I, ALPHA-1; COL1A1: intron 1 2046G-T   Charcot-Marie-Tooth X-Linked CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G1533A CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G279A CETP - G1533A Cardiovascular diseases - screening 50 polymorphisms CMV - Citomegalovirus - Quantitative test Candida albicans - Qualitative test CMV Genotyping for Drug Resistance CYP2D6 CYP2C19 CYP2C9 CYP1A2 CYP2B6 CYP2C8 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4B1 CYP19 (Aromatase) CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G279A COLLAGEN, TYPE I, ALPHA-1; COL1A1: intron 1 2046G-T   CYSTATHIONINE BETA-SYNTHASE (CBS): C699T CANAVAN disease (ASPA) CEROID LIPOFUSCINOSIS NEURONAL 1 (PPT1) CHARCOT-MARIE-TOOTH type 1A (PMP22) - linkage Crigler-Najjar syndrome (UGT1A1) Cistic Fibrosis - 33 mutations + 5Tpolymorphism screening (CFTR) Chromosome X STR genotyping CETP: G279A CYP1A1 (T>C+3801) CYP1B1 (Leu 432Val) COL1A1 CYP17A1 CYP1A1 (Ile462Val) CYP1B1 (Asn453Ser) COMT CYP1A1 (T>C+3801) CYP1B1 (Leu 432Val) Cardiovascular diseases - screening 50 polymorphisms CYSTATHIONINE BETA-SYNTHASE (CBS): T1080C CYSTATHIONINE BETA-SYNTHASE (CBS): C699T CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G1533A CYSTATHIONINE BETA-SYNTHASE (CBS): T1080C CALCITONIN RECEPTOR; CALCR: PRO463LEU CALCITONIN RECEPTOR; CALCR: PRO463LEU Ceroid-lipofuscinosis, neuronal, type 6 (CLN6) Congenital disorder of glycosylation, type 1A (PMM2) Caffeine intollerance test

D

Dr. Francesco FIORENTINO Duchenne Muscular Dystrophy (DMD) Diamond Blackfan Anemia (RPS19 gene) diidropirimidina deidrogenasi (DPD) DRD2 DYSTROPHIA MYOTONICA 2 (DM2) - (ZNF9) diastrophic dysplasia (SLC26A2) DYSAUTONOMIA, FAMILIAL (FD) Duchenne - Becker Muscular Dystrophy (DMD/DMB) - Linkage analysis DNA profiling - forensic purpose Duane-radial ray syndrome (SALL4) Dr.ssa Marina BALDI

E

EPIDERMOLYSIS BULLOSA Simplex - Dowling-Meara - KRT5 and KRT14 genes Estrogen Receptor (ER gene) EBV - Epstein-barr virus - Qualitative test Embriotoxicity Test EPIDERMOLYSIS BULLOSA Simplex - Weber-Cockayne - KRT5 gene EPIDERMOLYSIS BULLOSA Simplex - Mottled-Hyperpigmentation - KRT5 gene EPHX1 EPHX2 ESR1 ESR2 Exostoses (multiple) 1 (EXT1) ECTRODACTYLY ECTODERMAL DYSPLASIA (TP63) ESR-1 (IVS1) ESTROGEN RECEPTOR 1; ESR1: XbaI (IVS1-351 A/G) polymorphism ESTROGEN RECEPTOR 1; ESR1: PvuII (IVS1-397 T/C) polymorphism ESTROGEN RECEPTOR 1; ESR1: XbaI (IVS1-351 A/G) polymorphism ESTROGEN RECEPTOR 1; ESR1: PvuII (IVS1-397 T/C) polymorphism Ectodermal dysplasia 1 (EDA) exostoses, multiple type 1(EXT1) exostoses, multiple type 2 (EXT2)

F

Forensic genetics test on biological stains Factor V Leiden Factor II (prothrombin): G20210 polymorphism Familial Adenomatous Polyposis (FAP) - APC gene Fluorescent In-Situ Hybridization (FISH) Friedreich Ataxia (FRDA) Fragile X (FRAXA gene) FACTOR XIII: VAL34LEU (V34L) Familial Mediterranean Fever (FMF) - Screening most frequent mutations MEFV gene Familial Mediterranean Fever (FMF) - Total MEFV gene screening FSHR FANCONI anemia goup C FACTOR VII DEFICIENCY (F7) Fragile X (FRAXE gene) Fragile X (FRAXA gene) Fragile X (FRAXE gene) FACTOR II FACTOR V DI LEIDEN FACTOR V ( Y1702C ) FIBRINOGEN BETA (FGB) FACTOR XIII (F13A1) FISH - interphase amniotic cells (21 e X,Y) FISH - interphase amniotic cells (13, 18, 21, X, Y) FISH for WOLF-HIRSCHHORN Syndrome FISH for CRI-DU-CHAT Syndrome FISH for WILLIAMS Syndrome FISH for PRADER WILLI /ANGELMAN Syndrome FISH for MILLER DIEKER /LISSENCEPHALY Syndrome FISH for SMITH-MAGENIS Syndrome FISH for DI GEORGE Syndrome FISH for KALLMANN (KAL) Syndrome FISH with PAINTING Probes FACTOR V: mutation Y1702C FACTORE V: mutation His1299Arg Faciogenital dysplasia (FGD1) Factor V Cambridge: mutation R306T Factor V Cambridge: mutation R306T facioscapulohumeral muscular dystrophy (FSHD) FSHR

G

GLUTARICACIDEMIA I (GCDH gene) GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD gene) Gaucher disease - (GBA most frequent mutations screening ) GJA4 (Connexin 37 - CX37) Gardnerella vaginalis - Qualitative test GSTP1 - glutatione S-tranferasi P1 GSTM1 GSTT1 Glutatione S-transferase mu, M1 (GSTM1): gene  deletion Glutatione S-transferase P1 (GSTP1): I105V GAUCHER disease - (GBA) - complete gene screening GILBERT SYNDROME (UGT1A1) Glycogen storage disease type 1a (GSD1a) GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (CYBB) GALACTOSIDASE-BETA -1 DEFICIENCY (GLB1) Gangliosidosis (GLB1) GJA4 (Connexin 37 - CX37) G BETA 3 PROTEIN GSTP1 GSTM1 GAP JUNCTION PROTEIN ALPHA 4 (Connexin 37 - CX37): Pro319Ser Glutatione S-transferase P1 (GSTP1): polimorfismi A114V   Glutatione S-transferase theta, T1 (GSTT1): gene  deletion Glycogen storage disease type I, von Gierke disease (G6PC) galactosemia, type I (GALT) GALT gene - Premature Overian Failure

H

Hereditary Melanoma (P16 gene) HIV-1 DNA - Qualitative test HBV - B Hepatitis virus - qualitative test HPV - Qualitative test HLA - Typing HLA -genotyping HCV - C Hepatitis - virus - Qualitative test Hypocondroplasia (FGFR3 gene) Hemochromatosis classic (HFE gene) 3 mutations screening Huntington Disease (HD) Hemophilia A (FVIII gene) Hemophilia B (FIX gene) Hereditary DEAFNESS - (CX26-most frequent mutations screening) Helicobacter Pylori - Qualitative test Hereditary DEAFNESS - (CX26 total gene screening) HYPERLIPOPROTEINEMIA, TYPE III (APOE gene) Human Platelet Alloantigens (HPA) HOLT-ORAM (TBX5 gene) Human Platelet Alloantigens (HPA) Hemochromatosis type 3 (TFR2 gene ) 4 mutations screening Hemochromatosis type 4 (Ferroportin gene ) 2 mutations Hemochromatosis classic (HFE gene ) 12 mutations screening Hemochromatosis 18 mutations screening HPV - Quantitative test HPV - Genotyping HBV - B Hepatitis virus - quantitative test HBV - B Hepatitis virus - Drugs resestence HCV - C Hepatitis virus - Quantitative test HCV - C Hepatitis - virus - Genotyping HAV - A Hepatitis virus - Qualitative test HDV - D Hepatitis virus - Qualitative test HGV - G Hepatitis virus - Qualitative test HAV - A Hepatitis virus - Quantitative test HDV - D Hepatitis virus - Quantitative test HGV - G Hepatitis virus - Quantitative test HSV 1 - Herpes Simplex Virus Type 1 - Qualitative test HHV 6 - Herpes Virus Type 6 - Qualitative test HHV 8 - Herpes Virus Type 8 - Qualitative test HIV-1 DNA - Quantitative test HIV-2 DNA - Qualitative test HIV-1 RNA - Qualitative test HIV-1 RNA - Quantitative test Helicobacter Pylori - Drugs resistence HOXA13 HOXD13 HYPOMAGNESEMIA, PRIMARY (CLDN16) HYPER-IgD SYNDROME (MVK) Hereditary DEAFNESS - (CX30 total gene screening) HUMAN PLATELET ALLOANTIGENS (HPA) hemophagocytic lymphohistiocytosis (PFR1) Hypophosphatasia type 1 (ALPL)

I

Ipercolesterolemia familiare I^ trimester screening INTERLEUKIN 6 (IL6): G-174C Ichthyosis, lamellar (TGM1) INHIBIN B INHIBIN B INTEGRIN BETA 3 (GPIIIa) INTERLEUCHIN 6 (IL6) INTERLEUCHIN 10 (IL10) INHIBIN A INHIBIN B INTERLEUKIN 1B (IL1B): -511 C-T INTERLEUKIN 6 (IL6): G-174C INTERLEUKIN 6 (IL6): G-634C INTERLEUKIN 10 (IL10): G-1082A INTERFERON GAMMA (IFNG): +874 T-A INTERLEUKIN 1B (IL1B): -511 C-T INTERLEUKIN 6 (IL6): G-634C INTERLEUKIN 10 (IL10): G-1082A interleukin 3 receptor, alpha (IL3RA) Immunodysregulation, polyendocrinopathy, enteropathy (FOXP3) INHIBIN A gene (Premature Ovarian failure)

J

No analysis found

K

Karyotype KRABBE Disease (GALC gene) Karyotype Karyotype Karyotype - peripheral blood Karyotype - Amniotic fluid Karyotype on CVS Karyotype on abortion product Keratitis (PAX6)

L

LOH/RER Li-Fraumeni Syndrome - p53 gene Limb-Girdle Muscular Dystrophy - 2C (LGMD - 2C) - SGCG gene Limb-Girdle Muscular Dystrophy - 1C (LGMD - 1C) - CAV3 gene Lesch-Nyhan Syndrome (HPRT1 gene) Lipoprotein lipase (LPL) Lipoprotein lipase (LPL): C1595G Lipoprotein lipase (LPL): C1595G LOWE OCULOCEREBRORENAL SYNDROME (OCRL1) lymphoproliferative syndrome X-linked - (SH2D1A) Lactose intolerance (LCT): polymorphysm -13910 T/C Leri-Weill dyschondrosteosis (SHOX) LH- Receptor (LHR) gene LH- Receptor (LHR) gene LH- Receptor (LHR) gene Luteinizing hormone Beta (LHB) Luteinizing hormone Beta (LHB) LH- Receptor (LHR) gene List of 100 microdeletion/duplication syndromes detected by array-CGH

M

Methylenetetrahydrofolate reductase (MTHFR) gene: C677T variant MSH2 - HNPCC - Hereditary Non-Polyposys Colon Cancer Predisposition Test mRNA PSA Mycobacterium Tuberculosis - Qualitative test Molecular Aneuploidy Screening (QF-PCR) on chromosomes 13-18-21-X-Y Myotonic Dystrophy (Steinert Disease) - (DMPK) Mycoplasma genitalium - Qualitative test Molecular Aneuploidy Screening (QF-PCR) on chromosomes 21-X-Y mRNA Tyrosinase mRNA MART-1 mRNA MGB Medium Chain Acyl-CoA dehydrogenase (MCAD) deficit Methylenetetrahydrofolate reductase (MTHFR) gene: 1298 A/C variant Mitocondrial DNA (mtDNA) for forensic purposes Mycoplasma pneumoniae - Qualitative test MUCOPOLYSACCHARIDOSIS TYPE IIIA - SANFILIPPO SYNDROME (SGSH gene) Mucopolysaccharidosis VI (Arylsulphatase B - ARSB) Melas Syndrome MATRIX METALLOPROTEINASE 3 (MMP3): -1171 5A>6A Mycobacterium Tuberculosis - Drugs resistence Mycoplasma hominis - Qualitative test MDR1- Multi-Drug resistence 1 METHIONINE SYNTHASE REDUCTASE (MTRR): A66G Methylenetetrahydrofolate reductase (MTHFR) gene: C677T variant Maple syrup urine disease (MSUD) Mucolipidosis type IV (MLIV) Multiple endocrine neoplasia 1 (MEN1) MEVALONIC ACIDURIA - HYPER-IgD SYNDROME (MVK) MLH1 - HNPCC - Hereditary Non-Polyposys Colon Cancer Predisposition Test MUCOPOLYSACCHARIDOSIS TYPE IIIB (NAGLU) MUCOPOLYSACCHARIDOSIS TYPE IVB (GLB1) Mitocondrial DNA (HVR1-HVR2) MMP3 MTHFR - C677T MTHFR - 1298 A/C METHIONINE SYNTHASE REDUCTASE (MTRR): A66G MATRIX METALLOPROTEINASE 3 (MMP3): -1171 5A>6A Methylenetetrahydrofolate reductase (MTHFR) gene: 1298 A/C variant methylmalonic aciduria and homocystinuria, cbIC type (MMACHC) Metachromatic leukodystrophy (ARSA) mucopolysaccharidosis, type I (IDUA) M470V Polymorphism of CFTR gene - CAVD Metabolism of Sulfites panel Molecular karyotyping by Array-CGH Microchip images

N

Neurofibromatosis (NF1 gene) Neisseria gonorrhoeae PCR - Qualitative test Neurofibromatosis (NF1 gene) - Linkage NITRIC OXIDE SYNTHASE 3 (NOS3): VNTR intron 4 NITRIC OXIDE SYNTHASE 3 (NOS3) - Glu298Asp NITRIC OXIDE SYNTHASE 3 (NOS3) -786 T>C Nutritional Genetics (Nutrigenetics) - screening 50 polymorphisms N-acetiltransferasi 2 (NAT2) NITRIC OXIDE SYNTHASE 3 (NOS3): VNTR intron 4 Niemann-Pick disease type A (SMPD1) NEPHROTIC SYNDROME - STEROID RESISTANT (NPHS2) Niemann-Pick disease type B (SMPD1) NUCLEAR DNA - identification purpose (15 markers) NOS3 -786 T>C NOS3 - Glu298Asp NOS3 (VNTR) NPY (Neuropeptid Y) NEUROPEPTIDE Y (NPY): Leu7Pro NITRIC OXIDE SYNTHASE 3 (NOS3) - Glu298Asp NITRIC OXIDE SYNTHASE 3 (NOS3) -786 T>C NEUROPEPTIDE Y (NPY): Leu7Pro Neutropenia severe congenital type 1 (ELA2) Nemaline myopathy (CFL2)

O

Osteoporosis - Screening 7 polymorphisms Omenn syndrome (RAG1) Osteoporosis - Screening 7 polymorphisms

P

p53 gene mutation analysis Primary Dystonia - DYT1 gene Parvovirus (B19) - Qualitative test PHENYLKETONURIA (PAH gene) PGD mediante analisi del DNA: Quali patologie é possibile diagnosticare? parentage testing PLASMINOGEN ACTIVATOR INHIBITOR 1 (PAI-1): mutazione 1-BP DEL/INS, 4G/5G Preimplantation Genetic Diagnosis (PGD) for HLA typing on embryos (Preimplantation HLA matching) PON1 (PARAOXONASE 1 ): Gln192Arg PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA (PPARG): Pro12Ala PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION (PANK2) polycystic kidney disease (PKD1) - linkage POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE (PKHD1) - linkage analysis Peutz-Jeghers syndrome (STK11) Phroibitin (PHB) PON1 (PARAOXONASE 1 ) PAI- 1 PROGESTERON RECEPTOR - PGR PROSTATE CANCER, HEREDITARY - type 2 (ELAC2) Pancreatitis - hereditary (PRSS1-TYR) Paternity and Parentage Testing PON1 (PARAOXONASE 1 ): Gln192Arg Propionic acidemia B (PCCB) Pycnodysostosis (CTSK)

Q

No analysis found

R

Retinoblastoma (RB1 gene) Rubeovirus - Qualitative test RETINITIS PIGMENTOSA (RHODOPSIN - RHO gene) RETT Syndrome - MECP2 gene Response to Controlled ovarian hyperstimulation (COH)

S

Sindrome di Down - Trisomia 21 Spinocerebellar Ataxia (SCA) type 1 (ATXN1) Sickle-Cell Anemia SPINAL MUSCULAR ATROPHY TYPE I,II,III (SMA) Spinal-Bulbar Muscular Atrophy (SBMA) - Kennedy disease (AR) SRY - Sex Determining region Y Superoxide dismutase 1 (SOD1) STEROL REGULATORY ELEMENT BINDING TRANSCRIPTION FACTOR 2 (SREBF2): Gly595Ala Staphylococcus saprophyticus - Qualitative test Streptococcus agalactiae - Qualitative test SULT1A1 SULT1A2 SUPEROXIDE DISMUTASE 2 (SOD2): T175C SUPEROXIDE DISMUTASE - EXTRACELLULAR (SOD3) SPASTIC PARAPLEGIA ( SPG3A) Smith-Lemli-Opitz syndrome (DHCR7) Spinocerebellar Ataxia (SCA) type 2 (ATXN2) Spinocerebellar Ataxia (SCA) type 3 (ATXN3) Spinocerebellar Ataxia (SCA) type 6 (CACNA1A) Spinocerebellar Ataxia (SCA) type 7 (ATXN7) Sperm FISH STEROL REGULATORY ELEMENT BINDING TRANSCRIPTION FACTOR 2 (SREBF2) STEROID 5-ALPHA-REDUCTASE di type II - SRD5A2 - (Val89Leu) STEROID 5-ALPHA-REDUCTASE di type II - SRD5A2 - (Ala49Thr) Sperm FISH S100B PROTEIN (dosage) SUPEROXIDE DISMUTASE 2 (SOD2): C(-28)T SUPEROXIDE DISMUTASE 2 (SOD2): T175C SUPEROXIDE DISMUTASE - EXTRACELLULAR (SOD3) STEROL REGULATORY ELEMENT BINDING TRANSCRIPTION FACTOR 2 (SREBF2): Gly595Ala SUPEROXIDE DISMUTASE 2 (SOD2): C(-28)T Shwachman-Bodian-Diamond syndrome (SBDS)

T

Thrombophilia Panel 4 mutations Toxoplasma gondii - Qualitative test Thalassemia Beta - Screening of 23 most frequent mutations of beta globin gene Thrombophilia Panel for recurrent miscarriages Thalassemia Beta - Total beta globin gene Thyroid Hormone Receptor (THR) Thrombophilia Panel 13 mutations Thrombophilia Panel 13 mutations Trichomonas vaginalis - Qualitative test Timidilato sintasi (TS) TUMOR NECROSIS FACTOR-ALPHA (TNFA): -308 G-A TUBEROUS SCLEROSIS ( TSC1) TAY SACHS (HEXA) Thrombophilia Panel 13 mutations - Fact. V Leiden, Fact. V Y1702C, Fact.II, MTHFR (C677T, A1298C), Beta Fibrinogen, PAI-1, Factor XIII, HPA, ACE, ApoE, ApoB, AGT ) TGFBR Tyrosinemia type I (FAH) TUMOR NECROSIS FACTOR-ALPHA (TNFA): -308 G-A TG(n) Polymorphism of CFTR gene - (CAVD) Trisomy 21

U

Uniparental Disomy Ureaplasma Urealitycum - Qualitative test UGT1A1 - UDP-glucorosil-transferasi A1 UGT1A6 UGT1A7 UGT2B4 UGT2B15

V

VZV- Varicella Zoster Virus - Qualitative test Vitamin D receptor (VDR): TaqI polymorphism Vitamin D receptor (VDR): Fok1 polymorphism Van der Woude syndrome (IRF6) Von Hippel-Lindau syndrome (VHL) VITAMIN D RECEPTOR (VDR) VDR - (IVS7) Vascular endothelial growth factor (VEGF): -2578 C-A Vitamin D receptor (VDR): BsmI polymorphism Vitamin D receptor (VDR): TaqI polymorphism Vitamin D receptor (VDR): BsmI polymorphism Vitamin D receptor (VDR): Fok1 polymorphism

W

Wiskott-Aldrich Syndrome (WAS gene)

X

No analysis found

Y

Y-Chromosome hapotyping

Z

No analysis found