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Analysis List by Category

Biochemical Genetics
 
2^ trimester screening 2^ trimester screening
AFP (dosage) AFP (dosage)
I^ trimester screening I^ trimester screening
INHIBIN B INHIBIN B
S100B PROTEIN (dosage) S100B PROTEIN (dosage)
Cardiovascular Diseases (Ereditary Thrombophilia)
 
 Angiotensinogen gene  (AGT) Angiotensinogen gene (AGT)
3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE (HMGCR): -911 C-A 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE (HMGCR): -911 C-A
5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE (MTR): A2756G 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE (MTR): A2756G
ALPHA-1-ANTICHYMOTRYPSIN (AACT): -51 G-T ALPHA-1-ANTICHYMOTRYPSIN (AACT): -51 G-T
ALPHA-2B-ADRENERGIC RECEPTOR - ADRA2B:  Ins>Del Codon 299 ALPHA-2B-ADRENERGIC RECEPTOR - ADRA2B: Ins>Del Codon 299
Angiotensin Converting Enzyme (ACE) Angiotensin Converting Enzyme (ACE)
APOA1   (Apolilipoprotein A) APOA1 (Apolilipoprotein A)
ApoB (R3500Q)) Genotyping ApoB (R3500Q)) Genotyping
Apolipoprotein C3 (APOC3) - T3206G Apolipoprotein C3 (APOC3) - T3206G
Apolipoprotein C3 (APOC3):  T3175G Apolipoprotein C3 (APOC3): T3175G
Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping
Beta Fibrinogen (FGB):  -455G-A polymorphism  Beta Fibrinogen (FGB): -455G-A polymorphism
BETA-1-ADRENERGIC RECEPTOR -  ADRB1: Gly389Arg BETA-1-ADRENERGIC RECEPTOR - ADRB1: Gly389Arg
BETA-2-ADRENERGIC RECEPTOR - ADRB2 -  Gln27Glu  BETA-2-ADRENERGIC RECEPTOR - ADRB2 - Gln27Glu 
BETA-2-ADRENERGIC RECEPTOR - ADRB2 -  Gly16Arg BETA-2-ADRENERGIC RECEPTOR - ADRB2 - Gly16Arg
Cardiovascular diseases - screening 50 polymorphisms Cardiovascular diseases - screening 50 polymorphisms
CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) -  G279A CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G279A
CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G1533A CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G1533A
CYSTATHIONINE BETA-SYNTHASE (CBS): C699T CYSTATHIONINE BETA-SYNTHASE (CBS): C699T
CYSTATHIONINE BETA-SYNTHASE (CBS): T1080C CYSTATHIONINE BETA-SYNTHASE (CBS): T1080C
Factor  V  Leiden Factor V Leiden
Factor II (prothrombin): G20210 polymorphism Factor II (prothrombin): G20210 polymorphism
Factor V Cambridge: mutation R306T Factor V Cambridge: mutation R306T
FACTOR V:  mutation Y1702C FACTOR V: mutation Y1702C
FACTOR XIII:  VAL34LEU (V34L) FACTOR XIII: VAL34LEU (V34L)
FACTORE V:  mutation  His1299Arg FACTORE V: mutation His1299Arg
GJA4 (Connexin 37 - CX37) GJA4 (Connexin 37 - CX37)
Human Platelet Alloantigens (HPA) Human Platelet Alloantigens (HPA)
Human Platelet Alloantigens (HPA) Human Platelet Alloantigens (HPA)
HYPERLIPOPROTEINEMIA, TYPE III  (APOE gene) HYPERLIPOPROTEINEMIA, TYPE III (APOE gene)
INTERFERON GAMMA (IFNG): +874 T-A INTERFERON GAMMA (IFNG): +874 T-A
INTERLEUKIN 10 (IL10): G-1082A INTERLEUKIN 10 (IL10): G-1082A
INTERLEUKIN 1B (IL1B):  -511 C-T INTERLEUKIN 1B (IL1B): -511 C-T
INTERLEUKIN 6 (IL6):  G-174C INTERLEUKIN 6 (IL6): G-174C
INTERLEUKIN 6 (IL6): G-634C INTERLEUKIN 6 (IL6): G-634C
Ipercolesterolemia familiare Ipercolesterolemia familiare
Lipoprotein lipase (LPL): C1595G Lipoprotein lipase (LPL): C1595G
MATRIX METALLOPROTEINASE 3  (MMP3): -1171 5A>6A MATRIX METALLOPROTEINASE 3 (MMP3): -1171 5A>6A
METHIONINE SYNTHASE REDUCTASE  (MTRR):  A66G METHIONINE SYNTHASE REDUCTASE (MTRR): A66G
Methylenetetrahydrofolate reductase (MTHFR) gene:  1298 A/C variant Methylenetetrahydrofolate reductase (MTHFR) gene: 1298 A/C variant
Methylenetetrahydrofolate reductase (MTHFR) gene:  C677T variant Methylenetetrahydrofolate reductase (MTHFR) gene: C677T variant
NEUROPEPTIDE Y (NPY): Leu7Pro NEUROPEPTIDE Y (NPY): Leu7Pro
NITRIC OXIDE SYNTHASE 3 (NOS3)  -786 T>C NITRIC OXIDE SYNTHASE 3 (NOS3) -786 T>C
NITRIC OXIDE SYNTHASE 3 (NOS3) - Glu298Asp NITRIC OXIDE SYNTHASE 3 (NOS3) - Glu298Asp
NITRIC OXIDE SYNTHASE 3 (NOS3):  VNTR intron 4 NITRIC OXIDE SYNTHASE 3 (NOS3): VNTR intron 4
PLASMINOGEN ACTIVATOR INHIBITOR 1 (PAI-1): mutazione 1-BP DEL/INS, 4G/5G PLASMINOGEN ACTIVATOR INHIBITOR 1 (PAI-1): mutazione 1-BP DEL/INS, 4G/5G
PON1 (PARAOXONASE 1 ):  Gln192Arg PON1 (PARAOXONASE 1 ): Gln192Arg
STEROL REGULATORY ELEMENT BINDING TRANSCRIPTION FACTOR 2 (SREBF2): Gly595Ala  STEROL REGULATORY ELEMENT BINDING TRANSCRIPTION FACTOR 2 (SREBF2): Gly595Ala
SUPEROXIDE DISMUTASE - EXTRACELLULAR  (SOD3) SUPEROXIDE DISMUTASE - EXTRACELLULAR (SOD3)
SUPEROXIDE DISMUTASE 2 (SOD2): C(-28)T SUPEROXIDE DISMUTASE 2 (SOD2): C(-28)T
SUPEROXIDE DISMUTASE 2 (SOD2): T175C SUPEROXIDE DISMUTASE 2 (SOD2): T175C
Thrombophilia Panel 13 mutations Thrombophilia Panel 13 mutations
Thrombophilia Panel 4 mutations Thrombophilia Panel 4 mutations
TUMOR NECROSIS FACTOR-ALPHA (TNFA): -308 G-A TUMOR NECROSIS FACTOR-ALPHA (TNFA): -308 G-A
Vascular endothelial growth factor (VEGF):  -2578 C-A Vascular endothelial growth factor (VEGF): -2578 C-A
CYTOGENETICS
 
Fluorescent In-Situ Hybridization (FISH) Fluorescent In-Situ Hybridization (FISH)
Karyotype Karyotype
Karyotype - Amniotic fluid Karyotype - Amniotic fluid
Karyotype - peripheral blood Karyotype - peripheral blood
Karyotype on abortion product Karyotype on abortion product
Karyotype on CVS Karyotype on CVS
Sindrome di Down - Trisomia 21 Sindrome di Down - Trisomia 21
Ereditary Endocrinopaties
 
21 Idroxilase - S.A.G. (CYP21 gene) 21 Idroxilase - S.A.G. (CYP21 gene)
5-Alpha Reductase (SRD5A-2 gene) 5-Alpha Reductase (SRD5A-2 gene)
Androgen Receptor (AR gene) Androgen Receptor (AR gene)
Aromatase  (p450 gene) Aromatase (p450 gene)
Congenital Adrenal  Hypoplasia - AHC (DAX1 gene) Congenital Adrenal Hypoplasia - AHC (DAX1 gene)
Estrogen Receptor (ER gene) Estrogen Receptor (ER gene)
Thyroid Hormone Receptor (THR) Thyroid Hormone Receptor (THR)
Female infertility
 
ANTIPHOSPHOLIPID ANTIBODIES (ACA, APA, LAC) ANTIPHOSPHOLIPID ANTIBODIES (ACA, APA, LAC)
AUTOIMMUNITY  (ANA, ENA, ASMA, LAC, ACA, AOA, ATGA, APA) AUTOIMMUNITY (ANA, ENA, ASMA, LAC, ACA, AOA, ATGA, APA)
Fragile X (FRAXA gene) Fragile X (FRAXA gene)
Fragile X (FRAXE gene) Fragile X (FRAXE gene)
FSHR FSHR
GALT gene - Premature Overian Failure GALT gene - Premature Overian Failure
INHIBIN A gene (Premature Ovarian failure) INHIBIN A gene (Premature Ovarian failure)
INHIBIN B INHIBIN B
Karyotype Karyotype
LH- Receptor (LHR) gene LH- Receptor (LHR) gene
LH- Receptor (LHR) gene LH- Receptor (LHR) gene
Luteinizing hormone Beta (LHB) Luteinizing hormone Beta (LHB)
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 ) 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 )
Forensic Genetics
 
Chromosome X STR genotyping Chromosome X STR genotyping
DNA profiling - forensic purpose DNA profiling - forensic purpose
Dr. Francesco FIORENTINO Dr. Francesco FIORENTINO
Dr.ssa Marina BALDI Dr.ssa Marina BALDI
Forensic genetics test on biological stains Forensic genetics test on biological stains
Mitocondrial DNA (HVR1-HVR2) Mitocondrial DNA (HVR1-HVR2)
Mitocondrial DNA (mtDNA) for forensic purposes Mitocondrial DNA (mtDNA) for forensic purposes
NUCLEAR  DNA - identification purpose (15 markers) NUCLEAR DNA - identification purpose (15 markers)
parentage testing parentage testing
Y-Chromosome hapotyping Y-Chromosome hapotyping
HLA - Typing
 
HLA - Typing HLA - Typing
Infectious diseases - molecular testing
 
Bordetella pertussis - Qualitative test Bordetella pertussis - Qualitative test
Candida albicans - Qualitative test Candida albicans - Qualitative test
Chlamydia Trachomatis - Qualitative test Chlamydia Trachomatis - Qualitative test
CMV - Citomegalovirus - Qualitative test CMV - Citomegalovirus - Qualitative test
CMV - Citomegalovirus - Quantitative test CMV - Citomegalovirus - Quantitative test
CMV Genotyping for Drug Resistance CMV Genotyping for Drug Resistance
EBV - Epstein-barr virus - Qualitative test EBV - Epstein-barr virus - Qualitative test
Gardnerella vaginalis - Qualitative test Gardnerella vaginalis - Qualitative test
HAV - A Hepatitis virus - Qualitative test HAV - A Hepatitis virus - Qualitative test
HAV - A Hepatitis virus - Quantitative test HAV - A Hepatitis virus - Quantitative test
HBV - B Hepatitis virus - Drugs resestence HBV - B Hepatitis virus - Drugs resestence
HBV - B Hepatitis virus - qualitative test HBV - B Hepatitis virus - qualitative test
HBV - B Hepatitis virus - quantitative test HBV - B Hepatitis virus - quantitative test
HCV - C Hepatitis - virus - Genotyping HCV - C Hepatitis - virus - Genotyping
HCV - C Hepatitis - virus - Qualitative test HCV - C Hepatitis - virus - Qualitative test
HCV - C Hepatitis virus - Quantitative test HCV - C Hepatitis virus - Quantitative test
HDV - D Hepatitis virus - Qualitative test HDV - D Hepatitis virus - Qualitative test
HDV - D Hepatitis virus - Quantitative test HDV - D Hepatitis virus - Quantitative test
Helicobacter Pylori - Drugs resistence Helicobacter Pylori - Drugs resistence
Helicobacter Pylori - Qualitative test Helicobacter Pylori - Qualitative test
HGV - G Hepatitis virus - Qualitative test HGV - G Hepatitis virus - Qualitative test
HGV - G Hepatitis virus - Quantitative test HGV - G Hepatitis virus - Quantitative test
HHV 6 - Herpes Virus Type 6 - Qualitative test HHV 6 - Herpes Virus Type 6 - Qualitative test
HHV 8 - Herpes Virus Type 8 - Qualitative test HHV 8 - Herpes Virus Type 8 - Qualitative test
HIV-1 DNA - Qualitative test HIV-1 DNA - Qualitative test
HIV-1 DNA - Quantitative test HIV-1 DNA - Quantitative test
HIV-1 RNA - Qualitative test HIV-1 RNA - Qualitative test
HIV-1 RNA - Quantitative test HIV-1 RNA - Quantitative test
HIV-2 DNA - Qualitative test HIV-2 DNA - Qualitative test
HPV - Genotyping HPV - Genotyping
HPV - Qualitative test HPV - Qualitative test
HPV - Quantitative test HPV - Quantitative test
HSV 1 - Herpes Simplex Virus Type 1 - Qualitative test HSV 1 - Herpes Simplex Virus Type 1 - Qualitative test
Mycobacterium Tuberculosis - Drugs resistence Mycobacterium Tuberculosis - Drugs resistence
Mycobacterium Tuberculosis - Qualitative test Mycobacterium Tuberculosis - Qualitative test
Mycoplasma genitalium - Qualitative test Mycoplasma genitalium - Qualitative test
Mycoplasma hominis - Qualitative test Mycoplasma hominis - Qualitative test
Mycoplasma pneumoniae - Qualitative test Mycoplasma pneumoniae - Qualitative test
Neisseria gonorrhoeae PCR - Qualitative test Neisseria gonorrhoeae PCR - Qualitative test
Parvovirus (B19) - Qualitative test Parvovirus (B19) - Qualitative test
Rubeovirus - Qualitative test Rubeovirus - Qualitative test
Staphylococcus saprophyticus - Qualitative test Staphylococcus saprophyticus - Qualitative test
Streptococcus agalactiae - Qualitative test Streptococcus agalactiae - Qualitative test
Toxoplasma gondii - Qualitative test Toxoplasma gondii - Qualitative test
Trichomonas vaginalis - Qualitative test Trichomonas vaginalis - Qualitative test
Ureaplasma Urealitycum - Qualitative test Ureaplasma Urealitycum - Qualitative test
VZV- Varicella Zoster Virus - Qualitative test VZV- Varicella Zoster Virus - Qualitative test
Male Infertility
 
5T Polymorphism of CFTR gene - CAVD 5T Polymorphism of CFTR gene - CAVD
Androgen Receptor - CAG repeats Androgen Receptor - CAG repeats
ANTI SPERM ANTIBODIES (ASA) ANTI SPERM ANTIBODIES (ASA)
APOPTOSI - TEST   (TUNEL TEST) APOPTOSI - TEST (TUNEL TEST)
Chromosome Y deletion Chromosome Y deletion
Cistic Fibrosis - 33 mutations + 5Tpolymorphism screening (CFTR) Cistic Fibrosis - 33 mutations + 5Tpolymorphism screening (CFTR)
INHIBIN  B INHIBIN B
Karyotype Karyotype
M470V Polymorphism of CFTR gene - CAVD M470V Polymorphism of CFTR gene - CAVD
Sperm FISH Sperm FISH
TG(n)  Polymorphism of CFTR gene - (CAVD) TG(n) Polymorphism of CFTR gene - (CAVD)
Microarray-based molecular karyotyping
 
15q24.1-qter Duplication 15q24.1-qter Duplication
18q21.2-qter Deletion 18q21.2-qter Deletion
22q11.2 microdeletion syndrome 22q11.2 microdeletion syndrome
Array-CGH Array-CGH
Array-CGH chip Array-CGH chip
Array-CGH images Array-CGH images
Array-CGH: Images 2 Array-CGH: Images 2
List of 100 microdeletion/duplication syndromes detected by array-CGH List of 100 microdeletion/duplication syndromes detected by array-CGH
Microchip images Microchip images
Molecular karyotyping by Array-CGH Molecular karyotyping by Array-CGH
Trisomy 21 Trisomy 21
Molecular Cytogenetics
 
FISH  for  SMITH-MAGENIS Syndrome FISH for SMITH-MAGENIS Syndrome
FISH  for  WOLF-HIRSCHHORN Syndrome FISH for WOLF-HIRSCHHORN Syndrome
FISH  for CRI-DU-CHAT Syndrome FISH for CRI-DU-CHAT Syndrome
FISH  for DI GEORGE Syndrome FISH for DI GEORGE Syndrome
FISH  for KALLMANN (KAL) Syndrome FISH for KALLMANN (KAL) Syndrome
FISH  for MILLER DIEKER /LISSENCEPHALY Syndrome FISH for MILLER DIEKER /LISSENCEPHALY Syndrome
FISH  for PRADER WILLI /ANGELMAN Syndrome FISH for PRADER WILLI /ANGELMAN Syndrome
FISH  for WILLIAMS Syndrome FISH for WILLIAMS Syndrome
FISH - interphase amniotic cells  (13, 18, 21,  X, Y) FISH - interphase amniotic cells (13, 18, 21, X, Y)
FISH - interphase amniotic cells (21 e X,Y) FISH - interphase amniotic cells (21 e X,Y)
FISH  with PAINTING Probes FISH with PAINTING Probes
Sperm FISH Sperm FISH
Molecular Genetics
 
21 Idrossilasi - Sindrome Adreno Genitale (CYP21 gene) 21 Idrossilasi - Sindrome Adreno Genitale (CYP21 gene)
Achondroplasia (FGFR3 gene) Achondroplasia (FGFR3 gene)
Actin myopathy (ACTA1) Actin myopathy (ACTA1)
adenosine deaminase deficiency (ADA) adenosine deaminase deficiency (ADA)
ADRENAL HYPOPLASIA, CONGENITAL - AHC (DAX1) ADRENAL HYPOPLASIA, CONGENITAL - AHC (DAX1)
Adrenoleukodystrophy (ALD)-ABCD1 Adrenoleukodystrophy (ALD)-ABCD1
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE (IGHM) AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE (IGHM)
Alagille syndrome (JAG1) Alagille syndrome (JAG1)
Albinism, oculocutaneous 1 (TYR) Albinism, oculocutaneous 1 (TYR)
Alpha-1-Antitrypsin deficiency (PI gene) Alpha-1-Antitrypsin deficiency (PI gene)
Alzheimer  - screening 7 polymorphisms Alzheimer - screening 7 polymorphisms
Alzheimer - early onset - PSEN1 gene Alzheimer - early onset - PSEN1 gene
Alzheimer - early onset - PSEN2 gene Alzheimer - early onset - PSEN2 gene
Alzheimer disease type 1, early onset familial (APP) Alzheimer disease type 1, early onset familial (APP)
Amyloidosis (TTR) Amyloidosis (TTR)
AMYOTROPHIC LATERAL SCLEROSIS 1 (SOD1) AMYOTROPHIC LATERAL SCLEROSIS 1 (SOD1)
ANDROGEN INSENSITIVITY SYNDROME (AR) ANDROGEN INSENSITIVITY SYNDROME (AR)
ANIRIDIA (PAX6) ANIRIDIA (PAX6)
Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping
AROMATASE - deficiency (p450) AROMATASE - deficiency (p450)
Autism Autism
Bartter syndrome type 1 (KCNJ1) Bartter syndrome type 1 (KCNJ1)
Becker Muscular Dystrophy (DMB) Becker Muscular Dystrophy (DMB)
Beckwith-Wiedemann syndrome (CDKN1C) Beckwith-Wiedemann syndrome (CDKN1C)
blepharophimosis - ptosis - epicanthus inversus syndrome (BEPS): FOXL2 gene blepharophimosis - ptosis - epicanthus inversus syndrome (BEPS): FOXL2 gene
BLOOM SYNDROME (BLM) BLOOM SYNDROME (BLM)
Bruton tyrosine kinase (BTK gene) - Bruton disease Bruton tyrosine kinase (BTK gene) - Bruton disease
CANAVAN disease (ASPA) CANAVAN disease (ASPA)
CEROID LIPOFUSCINOSIS  NEURONAL 1  (PPT1) CEROID LIPOFUSCINOSIS NEURONAL 1 (PPT1)
Ceroid-lipofuscinosis, neuronal, type 6 (CLN6) Ceroid-lipofuscinosis, neuronal, type 6 (CLN6)
CHARCOT-MARIE-TOOTH type 1A  (PMP22) -  linkage CHARCOT-MARIE-TOOTH type 1A (PMP22) - linkage
Charcot-Marie-Tooth X-Linked Charcot-Marie-Tooth X-Linked
Cistic Fibrosis - 100 mutations screening (CFTR) Cistic Fibrosis - 100 mutations screening (CFTR)
Cistic Fibrosis - 200 mutations screening (CFTR) Cistic Fibrosis - 200 mutations screening (CFTR)
Cistic Fibrosis - 33 mutations + 5Tpolymorphism screening (CFTR) Cistic Fibrosis - 33 mutations + 5Tpolymorphism screening (CFTR)
Cistic Fibrosis - total CFTR gene screening Cistic Fibrosis - total CFTR gene screening
Congenital disorder of glycosylation, type 1A (PMM2) Congenital disorder of glycosylation, type 1A (PMM2)
Crigler-Najjar syndrome (UGT1A1) Crigler-Najjar syndrome (UGT1A1)
Diamond Blackfan Anemia (RPS19 gene) Diamond Blackfan Anemia (RPS19 gene)
diastrophic dysplasia (SLC26A2) diastrophic dysplasia (SLC26A2)
Duane-radial ray syndrome (SALL4) Duane-radial ray syndrome (SALL4)
Duchenne - Becker Muscular Dystrophy (DMD/DMB) - Linkage analysis Duchenne - Becker Muscular Dystrophy (DMD/DMB) - Linkage analysis
Duchenne Muscular Dystrophy (DMD) Duchenne Muscular Dystrophy (DMD)
DYSAUTONOMIA,  FAMILIAL (FD) DYSAUTONOMIA, FAMILIAL (FD)
DYSTROPHIA MYOTONICA 2 (DM2) - (ZNF9) DYSTROPHIA MYOTONICA 2 (DM2) - (ZNF9)
Ectodermal dysplasia 1 (EDA) Ectodermal dysplasia 1 (EDA)
ECTRODACTYLY  ECTODERMAL DYSPLASIA (TP63) ECTRODACTYLY ECTODERMAL DYSPLASIA (TP63)
EPIDERMOLYSIS BULLOSA Simplex -  Mottled-Hyperpigmentation -  KRT5  gene EPIDERMOLYSIS BULLOSA Simplex - Mottled-Hyperpigmentation - KRT5 gene
EPIDERMOLYSIS BULLOSA Simplex -  Weber-Cockayne -  KRT5  gene EPIDERMOLYSIS BULLOSA Simplex - Weber-Cockayne - KRT5 gene
EPIDERMOLYSIS BULLOSA Simplex - Dowling-Meara -  KRT5 and  KRT14 genes EPIDERMOLYSIS BULLOSA Simplex - Dowling-Meara - KRT5 and KRT14 genes
Exostoses (multiple) 1 (EXT1) Exostoses (multiple) 1 (EXT1)
exostoses, multiple type 1(EXT1) exostoses, multiple type 1(EXT1)
exostoses, multiple type 2 (EXT2) exostoses, multiple type 2 (EXT2)
Faciogenital dysplasia (FGD1) Faciogenital dysplasia (FGD1)
facioscapulohumeral muscular dystrophy (FSHD) facioscapulohumeral muscular dystrophy (FSHD)
FACTOR VII DEFICIENCY  (F7) FACTOR VII DEFICIENCY (F7)
Familial Mediterranean Fever (FMF) - Screening most frequent mutations MEFV gene Familial Mediterranean Fever (FMF) - Screening most frequent mutations MEFV gene
Familial Mediterranean Fever (FMF) - Total MEFV gene screening Familial Mediterranean Fever (FMF) - Total MEFV gene screening
FANCONI anemia goup C FANCONI anemia goup C
Fragile X (FRAXA gene) Fragile X (FRAXA gene)
Fragile X (FRAXE gene) Fragile X (FRAXE gene)
Friedreich Ataxia (FRDA) Friedreich Ataxia (FRDA)
galactosemia, type I (GALT) galactosemia, type I (GALT)
GALACTOSIDASE-BETA -1 DEFICIENCY (GLB1) GALACTOSIDASE-BETA -1 DEFICIENCY (GLB1)
Gangliosidosis (GLB1) Gangliosidosis (GLB1)
Gaucher disease  - (GBA most frequent mutations screening ) Gaucher disease - (GBA most frequent mutations screening )
GAUCHER disease -  (GBA) - complete gene screening GAUCHER disease - (GBA) - complete gene screening
GILBERT SYNDROME (UGT1A1) GILBERT SYNDROME (UGT1A1)
GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD gene) GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD gene)
GLUTARICACIDEMIA I (GCDH gene) GLUTARICACIDEMIA I (GCDH gene)
Glycogen storage disease type 1a (GSD1a) Glycogen storage disease type 1a (GSD1a)
Glycogen storage disease type I, von Gierke disease (G6PC) Glycogen storage disease type I, von Gierke disease (G6PC)
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (CYBB) GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (CYBB)
Hemochromatosis  18 mutations screening Hemochromatosis 18 mutations screening
Hemochromatosis  type 4 (Ferroportin gene ) 2 mutations Hemochromatosis type 4 (Ferroportin gene ) 2 mutations
Hemochromatosis classic (HFE gene ) 12 mutations screening Hemochromatosis classic (HFE gene ) 12 mutations screening
Hemochromatosis classic (HFE gene) 3 mutations screening Hemochromatosis classic (HFE gene) 3 mutations screening
Hemochromatosis type 3 (TFR2 gene ) 4 mutations screening Hemochromatosis type 3 (TFR2 gene ) 4 mutations screening
hemophagocytic lymphohistiocytosis (PFR1) hemophagocytic lymphohistiocytosis (PFR1)
Hemophilia  B (FIX gene) Hemophilia B (FIX gene)
Hemophilia A (FVIII gene) Hemophilia A (FVIII gene)
Hereditary DEAFNESS - (CX26 total gene screening) Hereditary DEAFNESS - (CX26 total gene screening)
Hereditary DEAFNESS - (CX26-most frequent mutations screening) Hereditary DEAFNESS - (CX26-most frequent mutations screening)
Hereditary DEAFNESS - (CX30 total gene screening) Hereditary DEAFNESS - (CX30 total gene screening)
HOLT-ORAM (TBX5 gene) HOLT-ORAM (TBX5 gene)
HOXA13 HOXA13
HOXD13 HOXD13
Huntington Disease (HD) Huntington Disease (HD)
HYPER-IgD SYNDROME (MVK) HYPER-IgD SYNDROME (MVK)
Hypocondroplasia (FGFR3 gene) Hypocondroplasia (FGFR3 gene)
HYPOMAGNESEMIA, PRIMARY (CLDN16) HYPOMAGNESEMIA, PRIMARY (CLDN16)
Hypophosphatasia type 1 (ALPL) Hypophosphatasia type 1 (ALPL)
Ichthyosis, lamellar (TGM1) Ichthyosis, lamellar (TGM1)
Immunodysregulation, polyendocrinopathy, enteropathy (FOXP3) Immunodysregulation, polyendocrinopathy, enteropathy (FOXP3)
interleukin 3 receptor, alpha (IL3RA) interleukin 3 receptor, alpha (IL3RA)
Keratitis (PAX6) Keratitis (PAX6)
KRABBE Disease (GALC gene) KRABBE Disease (GALC gene)
Leri-Weill dyschondrosteosis (SHOX) Leri-Weill dyschondrosteosis (SHOX)
Lesch-Nyhan Syndrome (HPRT1 gene) Lesch-Nyhan Syndrome (HPRT1 gene)
Limb-Girdle Muscular Dystrophy - 1C (LGMD - 1C) - CAV3 gene Limb-Girdle Muscular Dystrophy - 1C (LGMD - 1C) - CAV3 gene
Limb-Girdle Muscular Dystrophy - 2C (LGMD - 2C) - SGCG gene Limb-Girdle Muscular Dystrophy - 2C (LGMD - 2C) - SGCG gene
LOWE OCULOCEREBRORENAL SYNDROME  (OCRL1) LOWE OCULOCEREBRORENAL SYNDROME (OCRL1)
lymphoproliferative syndrome X-linked - (SH2D1A) lymphoproliferative syndrome X-linked - (SH2D1A)
Maple syrup urine disease (MSUD) Maple syrup urine disease (MSUD)
Medium Chain Acyl-CoA dehydrogenase (MCAD) deficit Medium Chain Acyl-CoA dehydrogenase (MCAD) deficit
Melas Syndrome Melas Syndrome
Metachromatic leukodystrophy (ARSA) Metachromatic leukodystrophy (ARSA)
methylmalonic aciduria and homocystinuria, cbIC type (MMACHC) methylmalonic aciduria and homocystinuria, cbIC type (MMACHC)
MEVALONIC ACIDURIA - HYPER-IgD SYNDROME (MVK) MEVALONIC ACIDURIA - HYPER-IgD SYNDROME (MVK)
Molecular Aneuploidy Screening (QF-PCR) on chromosomes  13-18-21-X-Y Molecular Aneuploidy Screening (QF-PCR) on chromosomes 13-18-21-X-Y
Molecular Aneuploidy Screening (QF-PCR) on chromosomes 21-X-Y Molecular Aneuploidy Screening (QF-PCR) on chromosomes 21-X-Y
Mucolipidosis type IV (MLIV) Mucolipidosis type IV (MLIV)
MUCOPOLYSACCHARIDOSIS TYPE IIIA - SANFILIPPO SYNDROME (SGSH gene) MUCOPOLYSACCHARIDOSIS TYPE IIIA - SANFILIPPO SYNDROME (SGSH gene)
MUCOPOLYSACCHARIDOSIS TYPE IIIB (NAGLU) MUCOPOLYSACCHARIDOSIS TYPE IIIB (NAGLU)
MUCOPOLYSACCHARIDOSIS TYPE IVB (GLB1) MUCOPOLYSACCHARIDOSIS TYPE IVB (GLB1)
Mucopolysaccharidosis VI (Arylsulphatase B - ARSB) Mucopolysaccharidosis VI (Arylsulphatase B - ARSB)
mucopolysaccharidosis, type I (IDUA) mucopolysaccharidosis, type I (IDUA)
Myotonic Dystrophy  (Steinert Disease) - (DMPK) Myotonic Dystrophy (Steinert Disease) - (DMPK)
Nemaline myopathy  (CFL2) Nemaline myopathy (CFL2)
NEPHROTIC SYNDROME - STEROID RESISTANT (NPHS2) NEPHROTIC SYNDROME - STEROID RESISTANT (NPHS2)
Neutropenia severe congenital type 1 (ELA2) Neutropenia severe congenital type 1 (ELA2)
Niemann-Pick disease type A  (SMPD1) Niemann-Pick disease type A (SMPD1)
Niemann-Pick disease type B  (SMPD1) Niemann-Pick disease type B (SMPD1)
Omenn syndrome (RAG1) Omenn syndrome (RAG1)
Pancreatitis - hereditary (PRSS1-TYR) Pancreatitis - hereditary (PRSS1-TYR)
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION (PANK2) PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION (PANK2)
Peutz-Jeghers syndrome (STK11) Peutz-Jeghers syndrome (STK11)
PHENYLKETONURIA (PAH gene) PHENYLKETONURIA (PAH gene)
POLYCYSTIC KIDNEY DISEASE  -  AUTOSOMAL RECESSIVE (PKHD1) - linkage analysis POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE (PKHD1) - linkage analysis
polycystic kidney disease (PKD1) - linkage polycystic kidney disease (PKD1) - linkage
Primary Dystonia - DYT1 gene Primary Dystonia - DYT1 gene
Propionic acidemia B (PCCB) Propionic acidemia B (PCCB)
Pycnodysostosis (CTSK) Pycnodysostosis (CTSK)
RETINITIS PIGMENTOSA (RHODOPSIN - RHO gene) RETINITIS PIGMENTOSA (RHODOPSIN - RHO gene)
RETT Syndrome - MECP2 gene RETT Syndrome - MECP2 gene
Shwachman-Bodian-Diamond syndrome (SBDS) Shwachman-Bodian-Diamond syndrome (SBDS)
Sickle-Cell Anemia Sickle-Cell Anemia
Smith-Lemli-Opitz syndrome (DHCR7) Smith-Lemli-Opitz syndrome (DHCR7)
SPASTIC PARAPLEGIA ( SPG3A) SPASTIC PARAPLEGIA ( SPG3A)
SPINAL MUSCULAR ATROPHY TYPE  I,II,III (SMA) SPINAL MUSCULAR ATROPHY TYPE I,II,III (SMA)
Spinal-Bulbar Muscular Atrophy (SBMA) - Kennedy disease (AR) Spinal-Bulbar Muscular Atrophy (SBMA) - Kennedy disease (AR)
Spinocerebellar Ataxia (SCA) type 1 (ATXN1) Spinocerebellar Ataxia (SCA) type 1 (ATXN1)
Spinocerebellar Ataxia (SCA) type 2 (ATXN2) Spinocerebellar Ataxia (SCA) type 2 (ATXN2)
Spinocerebellar Ataxia (SCA) type 3 (ATXN3) Spinocerebellar Ataxia (SCA) type 3 (ATXN3)
Spinocerebellar Ataxia (SCA) type 6 (CACNA1A) Spinocerebellar Ataxia (SCA) type 6 (CACNA1A)
Spinocerebellar Ataxia (SCA) type 7 (ATXN7) Spinocerebellar Ataxia (SCA) type 7 (ATXN7)
SRY - Sex Determining region Y SRY - Sex Determining region Y
Superoxide dismutase 1 (SOD1) Superoxide dismutase 1 (SOD1)
TAY SACHS (HEXA) TAY SACHS (HEXA)
Thalassemia Beta  - Screening of 23 most frequent mutations of beta globin gene Thalassemia Beta - Screening of 23 most frequent mutations of beta globin gene
Thalassemia Beta - Total beta globin gene Thalassemia Beta - Total beta globin gene
TUBEROUS SCLEROSIS  ( TSC1) TUBEROUS SCLEROSIS ( TSC1)
Tyrosinemia type I (FAH) Tyrosinemia type I (FAH)
Uniparental Disomy Uniparental Disomy
Van der Woude syndrome (IRF6) Van der Woude syndrome (IRF6)
Wiskott-Aldrich Syndrome (WAS gene) Wiskott-Aldrich Syndrome (WAS gene)
Molecular Oncology (Early Diagnosis)
 
 K-Ras gene mutation analysis K-Ras gene mutation analysis
LOH/RER LOH/RER
mRNA MART-1 mRNA MART-1
mRNA MGB mRNA MGB
mRNA PSA mRNA PSA
mRNA Tyrosinase mRNA Tyrosinase
p53 gene mutation analysis p53 gene mutation analysis
Phroibitin (PHB) Phroibitin (PHB)
Molecular Oncology (Predictive Tests)
 
(RET proto-oncogene) - Medullar Tyroid Cancer Predisposition Test (RET proto-oncogene) - Medullar Tyroid Cancer Predisposition Test
BRCA1 - Breast and Ovarian cancer Predisposition Test BRCA1 - Breast and Ovarian cancer Predisposition Test
BRCA2 - Breast and Ovarian cancer Predisposition Test BRCA2 - Breast and Ovarian cancer Predisposition Test
Familial Adenomatous Polyposis (FAP) - APC gene Familial Adenomatous Polyposis (FAP) - APC gene
Hereditary Melanoma (P16 gene) Hereditary Melanoma (P16 gene)
Li-Fraumeni Syndrome - p53 gene Li-Fraumeni Syndrome - p53 gene
MLH1  - HNPCC - Hereditary Non-Polyposys Colon Cancer Predisposition Test MLH1 - HNPCC - Hereditary Non-Polyposys Colon Cancer Predisposition Test
MSH2  - HNPCC - Hereditary Non-Polyposys Colon Cancer Predisposition Test MSH2 - HNPCC - Hereditary Non-Polyposys Colon Cancer Predisposition Test
Multiple endocrine neoplasia 1 (MEN1) Multiple endocrine neoplasia 1 (MEN1)
Neurofibromatosis (NF1 gene) Neurofibromatosis (NF1 gene)
Neurofibromatosis (NF1 gene) - Linkage Neurofibromatosis (NF1 gene) - Linkage
Retinoblastoma (RB1 gene) Retinoblastoma (RB1 gene)
Von Hippel-Lindau syndrome (VHL) Von Hippel-Lindau syndrome (VHL)
Nutrigenetics
 
3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE (HMGCR): -911 C-A 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE (HMGCR): -911 C-A
5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE (MTR): A2756G 5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE (MTR): A2756G
ACE ACE
ALPHA-2B-ADRENERGIC RECEPTOR - ADRA2B:  Ins>Del Codon 299 ALPHA-2B-ADRENERGIC RECEPTOR - ADRA2B: Ins>Del Codon 299
APOA1   (Apolilipoprotein A): -75 G>A APOA1 (Apolilipoprotein A): -75 G>A
Apolipoprotein B (Apo B):  R3500Q Apolipoprotein B (Apo B): R3500Q
Apolipoprotein C3 (APOC3) - T3206G Apolipoprotein C3 (APOC3) - T3206G
Apolipoprotein C3 (APOC3):  T3175G Apolipoprotein C3 (APOC3): T3175G
Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping
BETA-1-ADRENERGIC RECEPTOR -  ADRB1: Gly389Arg BETA-1-ADRENERGIC RECEPTOR - ADRB1: Gly389Arg
BETA-2-ADRENERGIC RECEPTOR - ADRB2 -  Gln27Glu  BETA-2-ADRENERGIC RECEPTOR - ADRB2 - Gln27Glu 
BETA-2-ADRENERGIC RECEPTOR - ADRB2 -  Gly16Arg BETA-2-ADRENERGIC RECEPTOR - ADRB2 - Gly16Arg
BETA-3-ADRENERGIC RECEPTOR - ADRB3:  Trp64Arg BETA-3-ADRENERGIC RECEPTOR - ADRB3: Trp64Arg
Caffeine intollerance test Caffeine intollerance test
CALCITONIN RECEPTOR; CALCR: PRO463LEU CALCITONIN RECEPTOR; CALCR: PRO463LEU
CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) -  G279A CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G279A
CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G1533A CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) - G1533A
COLLAGEN, TYPE I, ALPHA-1; COL1A1: intron 1 2046G-T   COLLAGEN, TYPE I, ALPHA-1; COL1A1: intron 1 2046G-T  
CYSTATHIONINE BETA-SYNTHASE (CBS): C699T CYSTATHIONINE BETA-SYNTHASE (CBS): C699T
CYSTATHIONINE BETA-SYNTHASE (CBS): T1080C CYSTATHIONINE BETA-SYNTHASE (CBS): T1080C
ESTROGEN RECEPTOR 1; ESR1: PvuII (IVS1-397 T/C) 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: XbaI (IVS1-351 A/G) polymorphism
GAP JUNCTION PROTEIN ALPHA 4  (Connexin 37 - CX37): Pro319Ser GAP JUNCTION PROTEIN ALPHA 4 (Connexin 37 - CX37): Pro319Ser
Glutatione S-transferase mu, M1 (GSTM1):  gene  deletion Glutatione S-transferase mu, M1 (GSTM1): gene  deletion
Glutatione S-transferase P1 (GSTP1): I105V Glutatione S-transferase P1 (GSTP1): I105V
Glutatione S-transferase P1 (GSTP1): polimorfismi  A114V   Glutatione S-transferase P1 (GSTP1): polimorfismi A114V  
Glutatione S-transferase theta, T1 (GSTT1): gene  deletion Glutatione S-transferase theta, T1 (GSTT1): gene  deletion
INTERLEUKIN 10 (IL10): G-1082A INTERLEUKIN 10 (IL10): G-1082A
INTERLEUKIN 1B (IL1B):  -511 C-T INTERLEUKIN 1B (IL1B): -511 C-T
INTERLEUKIN 6 (IL6):  G-174C INTERLEUKIN 6 (IL6): G-174C
INTERLEUKIN 6 (IL6): G-634C INTERLEUKIN 6 (IL6): G-634C
Lactose intolerance (LCT):  polymorphysm -13910 T/C Lactose intolerance (LCT): polymorphysm -13910 T/C
Lipoprotein lipase (LPL): C1595G Lipoprotein lipase (LPL): C1595G
MATRIX METALLOPROTEINASE 3  (MMP3): -1171 5A>6A MATRIX METALLOPROTEINASE 3 (MMP3): -1171 5A>6A
Metabolism of Sulfites panel Metabolism of Sulfites panel
METHIONINE SYNTHASE REDUCTASE  (MTRR):  A66G METHIONINE SYNTHASE REDUCTASE (MTRR): A66G
Methylenetetrahydrofolate reductase (MTHFR) gene:  1298 A/C variant Methylenetetrahydrofolate reductase (MTHFR) gene: 1298 A/C variant
Methylenetetrahydrofolate reductase (MTHFR) gene:  C677T variant Methylenetetrahydrofolate reductase (MTHFR) gene: C677T variant
NEUROPEPTIDE Y (NPY): Leu7Pro NEUROPEPTIDE Y (NPY): Leu7Pro
NITRIC OXIDE SYNTHASE 3 (NOS3) - Glu298Asp NITRIC OXIDE SYNTHASE 3 (NOS3) - Glu298Asp
NITRIC OXIDE SYNTHASE 3 (NOS3) -786 T>C NITRIC OXIDE SYNTHASE 3 (NOS3) -786 T>C
NITRIC OXIDE SYNTHASE 3 (NOS3):  VNTR intron 4 NITRIC OXIDE SYNTHASE 3 (NOS3): VNTR intron 4
Nutritional Genetics (Nutrigenetics) - screening 50 polymorphisms Nutritional Genetics (Nutrigenetics) - screening 50 polymorphisms
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA (PPARG): Pro12Ala PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA (PPARG): Pro12Ala
PON1 (PARAOXONASE 1 ):  Gln192Arg PON1 (PARAOXONASE 1 ): Gln192Arg
STEROL REGULATORY ELEMENT BINDING TRANSCRIPTION FACTOR 2 (SREBF2): Gly595Ala STEROL REGULATORY ELEMENT BINDING TRANSCRIPTION FACTOR 2 (SREBF2): Gly595Ala
SUPEROXIDE DISMUTASE - EXTRACELLULAR  (SOD3) SUPEROXIDE DISMUTASE - EXTRACELLULAR (SOD3)
SUPEROXIDE DISMUTASE 2 (SOD2): C(-28)T SUPEROXIDE DISMUTASE 2 (SOD2): C(-28)T
SUPEROXIDE DISMUTASE 2 (SOD2): T175C SUPEROXIDE DISMUTASE 2 (SOD2): T175C
TUMOR NECROSIS FACTOR-ALPHA (TNFA): -308 G-A TUMOR NECROSIS FACTOR-ALPHA (TNFA): -308 G-A
Vitamin D receptor (VDR): BsmI polymorphism Vitamin D receptor (VDR): BsmI polymorphism
Vitamin D receptor (VDR): Fok1 polymorphism Vitamin D receptor (VDR): Fok1 polymorphism
Vitamin D receptor (VDR): TaqI polymorphism Vitamin D receptor (VDR): TaqI polymorphism
Osteoporosis
 
CALCITONIN RECEPTOR; CALCR: PRO463LEU CALCITONIN RECEPTOR; CALCR: PRO463LEU
COLLAGEN, TYPE I, ALPHA-1; COL1A1: intron 1 2046G-T   COLLAGEN, TYPE I, ALPHA-1; COL1A1: intron 1 2046G-T  
ESTROGEN RECEPTOR 1; ESR1: PvuII (IVS1-397 T/C) 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: XbaI (IVS1-351 A/G) polymorphism
Osteoporosis - Screening 7 polymorphisms Osteoporosis - Screening 7 polymorphisms
Vitamin D receptor (VDR): BsmI polymorphism Vitamin D receptor (VDR): BsmI polymorphism
Vitamin D receptor (VDR): Fok1 polymorphism Vitamin D receptor (VDR): Fok1 polymorphism
Vitamin D receptor (VDR): TaqI polymorphism Vitamin D receptor (VDR): TaqI polymorphism
Paternity and Parentage Testing
 
Paternity and Parentage Testing Paternity and Parentage Testing
Pharmacogenetics
 
5-@Hydroxytryptamine transporter (5-HTT, SLC6A4) 5-@Hydroxytryptamine transporter (5-HTT, SLC6A4)
CYP19 (Aromatase) CYP19 (Aromatase)
CYP1A2 CYP1A2
CYP2B6 CYP2B6
CYP2C19 CYP2C19
CYP2C8 CYP2C8
CYP2C9 CYP2C9
CYP2D6 CYP2D6
CYP2E1 CYP2E1
CYP2J2 CYP2J2
CYP3A4 CYP3A4
CYP3A5 CYP3A5
CYP4B1 CYP4B1
diidropirimidina deidrogenasi (DPD) diidropirimidina deidrogenasi (DPD)
DRD2 DRD2
EPHX1 EPHX1
EPHX2 EPHX2
ESR1 ESR1
ESR2 ESR2
FSHR FSHR
GSTM1 GSTM1
GSTP1 - glutatione S-tranferasi P1 GSTP1 - glutatione S-tranferasi P1
GSTT1 GSTT1
LH- Receptor (LHR) gene LH- Receptor (LHR) gene
MDR1- Multi-Drug resistence 1 MDR1- Multi-Drug resistence 1
N-acetiltransferasi 2 (NAT2) N-acetiltransferasi 2 (NAT2)
Response to Controlled ovarian hyperstimulation (COH) Response to Controlled ovarian hyperstimulation (COH)
SULT1A1 SULT1A1
SULT1A2 SULT1A2
Timidilato sintasi (TS) Timidilato sintasi (TS)
UGT1A1 - UDP-glucorosil-transferasi A1 UGT1A1 - UDP-glucorosil-transferasi A1
UGT1A6 UGT1A6
UGT1A7 UGT1A7
UGT2B15 UGT2B15
UGT2B4 UGT2B4
Preimplantation Genetic Diagnosis (PGD)
 
Come si esegue la PGD Come si esegue la PGD
PGD mediante analisi del DNA: Quali patologie é possibile diagnosticare? PGD mediante analisi del DNA: Quali patologie é possibile diagnosticare?
Preimplantation Genetic Diagnosis (PGD) for HLA typing on embryos (Preimplantation HLA matching) Preimplantation Genetic Diagnosis (PGD) for HLA typing on embryos (Preimplantation HLA matching)
Preventive Genetic Testing
 
 ADRB2 - ( Gly16Arg) ADRB2 - ( Gly16Arg)
3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE (HMGCR) 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE (HMGCR)
ADRA2B ADRA2B
ADRB1 ADRB1
ADRB2 - ( Gln27Glu) ADRB2 - ( Gln27Glu)
ADRB3 ADRB3
AGT AGT
Alzheimer  - screening 7 polymorphisms Alzheimer - screening 7 polymorphisms
ANDROGEN RECEPTOR (AR) ANDROGEN RECEPTOR (AR)
ANGIOTENSIN CONVERTING ENZIME (ACE) ANGIOTENSIN CONVERTING ENZIME (ACE)
APO B  (R3500Q ) APO B (R3500Q )
APO E (E2 E3 E4 ) Apolipoprotein E APO E (E2 E3 E4 ) Apolipoprotein E
APOA1   (Apolilipoprotein A) APOA1 (Apolilipoprotein A)
Apolipoprotein C3 (APOC3):  T3175G Apolipoprotein C3 (APOC3): T3175G
Apolipoprotein C3 (APOC3):  T3206G Apolipoprotein C3 (APOC3): T3206G
Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping
AROMATASE  - CYP19A1 (1558C>T) AROMATASE - CYP19A1 (1558C>T)
Cardiovascular diseases - screening 50 polymorphisms Cardiovascular diseases - screening 50 polymorphisms
CETP - G1533A CETP - G1533A
CETP: G279A CETP: G279A
COL1A1 COL1A1
COMT COMT
CYP17A1 CYP17A1
CYP1A1 (Ile462Val) CYP1A1 (Ile462Val)
CYP1A1 (T>C+3801) CYP1A1 (T>C+3801)
CYP1A1 (T>C+3801) CYP1A1 (T>C+3801)
CYP1B1 (Asn453Ser) CYP1B1 (Asn453Ser)
CYP1B1 (Leu 432Val) CYP1B1 (Leu 432Val)
CYP1B1 (Leu 432Val) CYP1B1 (Leu 432Val)
ESR-1 (IVS1) ESR-1 (IVS1)
FACTOR II FACTOR II
FACTOR V     ( Y1702C ) FACTOR V ( Y1702C )
Factor V Cambridge: mutation R306T Factor V Cambridge: mutation R306T
FACTOR V DI LEIDEN FACTOR V DI LEIDEN
FACTOR XIII (F13A1) FACTOR XIII (F13A1)
FIBRINOGEN BETA (FGB) FIBRINOGEN BETA (FGB)
G BETA 3 PROTEIN G BETA 3 PROTEIN
GJA4 (Connexin 37 - CX37) GJA4 (Connexin 37 - CX37)
GSTM1 GSTM1
GSTP1     GSTP1
HUMAN PLATELET ALLOANTIGENS (HPA) HUMAN PLATELET ALLOANTIGENS (HPA)
INTEGRIN BETA 3 (GPIIIa) INTEGRIN BETA 3 (GPIIIa)
INTERLEUCHIN  6 (IL6) INTERLEUCHIN 6 (IL6)
INTERLEUCHIN 10 (IL10) INTERLEUCHIN 10 (IL10)
Lipoprotein lipase (LPL) Lipoprotein lipase (LPL)
MMP3 MMP3
MTHFR  - 1298 A/C MTHFR - 1298 A/C
MTHFR - C677T MTHFR - C677T
NOS3  -786 T>C NOS3 -786 T>C
NOS3 - Glu298Asp NOS3 - Glu298Asp
NOS3 (VNTR) NOS3 (VNTR)
NPY (Neuropeptid Y) NPY (Neuropeptid Y)
Osteoporosis - Screening 7 polymorphisms Osteoporosis - Screening 7 polymorphisms
PAI- 1 PAI- 1
PON1 (PARAOXONASE 1 ) PON1 (PARAOXONASE 1 )
PROGESTERON RECEPTOR - PGR PROGESTERON RECEPTOR - PGR
PROSTATE CANCER,  HEREDITARY - type  2 (ELAC2) PROSTATE CANCER, HEREDITARY - type 2 (ELAC2)
STEROID 5-ALPHA-REDUCTASE  di type II - SRD5A2 - (Ala49Thr) STEROID 5-ALPHA-REDUCTASE di type II - SRD5A2 - (Ala49Thr)
STEROID 5-ALPHA-REDUCTASE  di type II - SRD5A2 - (Val89Leu) STEROID 5-ALPHA-REDUCTASE di type II - SRD5A2 - (Val89Leu)
STEROL REGULATORY ELEMENT BINDING TRANSCRIPTION FACTOR 2 (SREBF2) STEROL REGULATORY ELEMENT BINDING TRANSCRIPTION FACTOR 2 (SREBF2)
TGFBR TGFBR
VDR - (IVS7) VDR - (IVS7)
VITAMIN D RECEPTOR (VDR) VITAMIN D RECEPTOR (VDR)
Recurrent Miscarriage
 
AUTOIMMUNITY (ANA, ENA, ASMA, LAC, ACA, AOA, ATGA, APA) AUTOIMMUNITY (ANA, ENA, ASMA, LAC, ACA, AOA, ATGA, APA)
HLA -genotyping HLA -genotyping
Thrombophilia Panel 13 mutations Thrombophilia Panel 13 mutations
Thrombophilia Panel for recurrent miscarriages Thrombophilia Panel for recurrent miscarriages
Reproductive Genetics
 
INHIBIN A INHIBIN A
LH- Receptor (LHR) gene LH- Receptor (LHR) gene
Luteinizing hormone Beta (LHB) Luteinizing hormone Beta (LHB)