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Molecular Genetics

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 ) - GBA gene most frequent mutations
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) -