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Laboratorio certificato - UNI EN ISO 9001:2000

Medical Centre
Via Po, 102
00198 Rome (Italy)

Tel. + (39) 06 85304150
      + (39) 06 85358425
Fax. + (39) 06 85344693


 Laboratory
Via Castel Giubileo, 11
00138 Rome (Italy)
Tel. : + (39) 06.8811270 (6 lines)
Fax : +(39) 06.64492025

E-mail
 info@laboratoriogenoma.eu

WebSite
 http://www.laboratoriogenoma.eu 
 

Numero Verde
 
Genetic Tests Analyses List

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

 


For more information:
Tel: +39068811270
Fax: +390664492025
E-mail: info@laboratoriogenoma.eu
 

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