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Analysis List (A-Z)

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