| Molecular Genetics |
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21 Idrossilasi - Sindrome Adreno Genitale (CYP21 gene) -
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methylmalonic aciduria and homocystinuria, cbIC type (MMACHC) -
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MEVALONIC ACIDURIA - HYPER-IgD SYNDROME (MVK) -
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Achondroplasia (FGFR3 gene) -
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Actin myopathy (ACTA1) -
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adenosine deaminase deficiency (ADA) -
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Adrenoleukodystrophy (ALD)-ABCD1 -
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AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE (IGHM) -
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Alagille syndrome (JAG1) -
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Albinism, oculocutaneous 1 (TYR) -
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Alpha-1-Antitrypsin deficiency (PI gene) -
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Alzheimer - screening 7 polymorphisms -
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Alzheimer - early onset - PSEN1 gene -
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Alzheimer - early onset - PSEN2 gene -
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Alzheimer disease type 1, early onset familial (APP) -
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Amyloidosis (TTR) -
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Sickle-Cell Anemia -
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FANCONI anemia goup C -
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Molecular Aneuploidy Screening (QF-PCR) on chromosomes 13-18-21-X-Y -
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Molecular Aneuploidy Screening (QF-PCR) on chromosomes 21-X-Y -
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ANIRIDIA (PAX6) -
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Apolipoprotein E (ApoE): E2, E3, E4 alleles Genotyping -
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AROMATASE - deficiency (p450) -
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Friedreich Ataxia (FRDA) -
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Spinocerebellar Ataxia (SCA) type 1 (ATXN1) -
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Spinocerebellar Ataxia (SCA) type 2 (ATXN2) -
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Spinocerebellar Ataxia (SCA) type 3 (ATXN3) -
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Spinocerebellar Ataxia (SCA) type 6 (CACNA1A) -
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Spinocerebellar Ataxia (SCA) type 7 (ATXN7) -
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Spinal-Bulbar Muscular Atrophy (SBMA) - Kennedy disease (AR) -
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SPINAL MUSCULAR ATROPHY TYPE I,II,III (SMA) -
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Autism -
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Bartter syndrome type 1 (KCNJ1) -
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Beckwith-Wiedemann syndrome (CDKN1C) -
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blepharophimosis - ptosis - epicanthus inversus syndrome (BEPS): FOXL2 gene -
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BLOOM SYNDROME (BLM) -
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Bruton tyrosine kinase (BTK gene) - Bruton disease -
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CANAVAN disease (ASPA) -
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Ceroid-lipofuscinosis, neuronal, type 6 (CLN6) -
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CEROID LIPOFUSCINOSIS NEURONAL 1 (PPT1) -
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CHARCOT-MARIE-TOOTH type 1A (PMP22) - linkage -
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Charcot-Marie-Tooth X-Linked -
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Congenital disorder of glycosylation, type 1A (PMM2) -
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Crigler-Najjar syndrome (UGT1A1) -
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Diamond Blackfan Anemia (RPS19 gene) -
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DYSAUTONOMIA, FAMILIAL (FD) -
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Uniparental Disomy -
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diastrophic dysplasia (SLC26A2) -
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Primary Dystonia - DYT1 gene -
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Limb-Girdle Muscular Dystrophy - 1C (LGMD - 1C) - CAV3 gene -
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Limb-Girdle Muscular Dystrophy - 2C (LGMD - 2C) - SGCG gene -
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facioscapulohumeral muscular dystrophy (FSHD) -
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Myotonic Dystrophy (Steinert Disease) - (DMPK) -
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DYSTROPHIA MYOTONICA 2 (DM2) - (ZNF9) -
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Becker Muscular Dystrophy (DMB) -
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Duchenne Muscular Dystrophy (DMD) -
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Duchenne - Becker Muscular Dystrophy (DMD/DMB) - Linkage analysis -
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Duane-radial ray syndrome (SALL4) -
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Ectodermal dysplasia 1 (EDA) -
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ECTRODACTYLY ECTODERMAL DYSPLASIA (TP63) -
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Hemochromatosis type 4 (Ferroportin gene ) 2 mutations -
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Hemochromatosis classic (HFE gene ) 12 mutations screening -
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Hemochromatosis classic (HFE gene) 3 mutations screening -
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Hemochromatosis 18 mutations screening -
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Hemochromatosis type 3 (TFR2 gene ) 4 mutations screening -
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Hemophilia A (FVIII gene) -
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Hemophilia B (FIX gene) -
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EPIDERMOLYSIS BULLOSA Simplex - Dowling-Meara - KRT5 and KRT14 genes -
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EPIDERMOLYSIS BULLOSA Simplex - Mottled-Hyperpigmentation - KRT5 gene -
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EPIDERMOLYSIS BULLOSA Simplex - Weber-Cockayne - KRT5 gene -
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Exostoses (multiple) 1 (EXT1) -
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exostoses, multiple type 1(EXT1) -
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exostoses, multiple type 2 (EXT2) -
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Faciogenital dysplasia (FGD1) -
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FACTOR VII DEFICIENCY (F7) -
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Familial Mediterranean Fever (FMF) - Screening most frequent mutations MEFV gene -
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Familial Mediterranean Fever (FMF) - Total MEFV gene screening -
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PHENYLKETONURIA (PAH gene) -
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Cistic Fibrosis - 200 mutations screening (CFTR) -
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Cistic Fibrosis - 33 mutations + 5Tpolymorphism screening (CFTR) -
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Cistic Fibrosis - 100 mutations screening (CFTR) -
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Cistic Fibrosis - total CFTR gene screening -
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GALACTOSIDASE-BETA -1 DEFICIENCY (GLB1) -
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galactosemia, type I (GALT) -
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Gangliosidosis (GLB1) -
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Gaucher disease - (GBA most frequent mutations screening ) -
GBA gene most frequent mutations
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GAUCHER disease - (GBA) - complete gene screening -
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GILBERT SYNDROME (UGT1A1) -
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GLUTARICACIDEMIA I (GCDH gene) -
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Glycogen storage disease type 1a (GSD1a) -
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Glycogen storage disease type I, von Gierke disease (G6PC) -
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GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (CYBB) -
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GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD gene) -
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HOLT-ORAM (TBX5 gene) -
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Huntington Disease (HD) -
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Ichthyosis, lamellar (TGM1) -
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Immunodysregulation, polyendocrinopathy, enteropathy (FOXP3) -
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ANDROGEN INSENSITIVITY SYNDROME (AR) -
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interleukin 3 receptor, alpha (IL3RA) -
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HYPER-IgD SYNDROME (MVK) -
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Hypocondroplasia (FGFR3 gene) -
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Hypophosphatasia type 1 (ALPL) -
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HYPOMAGNESEMIA, PRIMARY (CLDN16) -
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ADRENAL HYPOPLASIA, CONGENITAL - AHC (DAX1) -
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Keratitis (PAX6) -
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KRABBE Disease -
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KRABBE Disease (GALC gene) -
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Leri-Weill dyschondrosteosis (SHOX) -
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Lesch-Nyhan Syndrome (HPRT1 gene) -
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Metachromatic leukodystrophy (ARSA) -
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hemophagocytic lymphohistiocytosis (PFR1) -
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lymphoproliferative syndrome X-linked - (SH2D1A) -
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LOWE OCULOCEREBRORENAL SYNDROME (OCRL1) -
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HOXA13 -
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Maple syrup urine disease (MSUD) -
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Medium Chain Acyl-CoA dehydrogenase (MCAD) deficit -
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Melas Syndrome -
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Mucolipidosis type IV (MLIV) -
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MUCOPOLYSACCHARIDOSIS TYPE IIIA - SANFILIPPO SYNDROME (SGSH gene) -
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MUCOPOLYSACCHARIDOSIS TYPE IIIB (NAGLU) -
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MUCOPOLYSACCHARIDOSIS TYPE IVB (GLB1) -
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Mucopolysaccharidosis VI (Arylsulphatase B - ARSB) -
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mucopolysaccharidosis, type I (IDUA) -
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NEPHROTIC SYNDROME - STEROID RESISTANT (NPHS2) -
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Nemaline myopathy (CFL2) -
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Neutropenia severe congenital type 1 (ELA2) -
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Niemann-Pick disease type A (SMPD1) -
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Niemann-Pick disease type B (SMPD1) -
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Omenn syndrome (RAG1) -
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Pancreatitis - hereditary (PRSS1-TYR) -
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PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION (PANK2) -
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SPASTIC PARAPLEGIA ( SPG3A) -
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Peutz-Jeghers syndrome (STK11) -
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Propionic acidemia B (PCCB) -
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Pycnodysostosis (CTSK) -
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polycystic kidney disease (PKD1) - linkage -
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POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE (PKHD1) - linkage analysis -
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RETINITIS PIGMENTOSA (RHODOPSIN - RHO gene) -
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RETT Syndrome - MECP2 gene -
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AMYOTROPHIC LATERAL SCLEROSIS 1 (SOD1) -
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TUBEROUS SCLEROSIS ( TSC1) -
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Shwachman-Bodian-Diamond syndrome (SBDS) -
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HOXD13 -
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Smith-Lemli-Opitz syndrome (DHCR7) -
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Hereditary DEAFNESS - (CX26 total gene screening) -
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Hereditary DEAFNESS - (CX30 total gene screening) -
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Hereditary DEAFNESS - (CX26-most frequent mutations screening) -
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SRY - Sex Determining region Y -
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Superoxide dismutase 1 (SOD1) -
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Talassemia Alpha -
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Thalassemia Beta - Total beta globin gene -
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Thalassemia Beta - Screening of 23 most frequent mutations of beta globin gene -
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TAY SACHS (HEXA) -
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Tyrosinemia type I (FAH) -
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Van der Woude syndrome (IRF6) -
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Wiskott-Aldrich Syndrome (WAS gene) -
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Fragile X (FRAXA gene) -
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Fragile X (FRAXE gene) -
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