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Molecular Diagnostics

Image Molecular Diagnostics
  • 21-Hydroxylase deficiency (frequent mutations and deletion/duplication analysis of CYP21A2 gene)
  • Achondroplasia (FGFR3 gene)
  • Acute Intermittent Porphyria (HMBS gene)
  • Alpha-1 Antitrypsin (genotyping)
  • Alstrom Syndrome (ALMS1 gene)
  • Alzheimer disease (APOE; alleles 2, 3 and 4)
  • Alzheimer disease (APP  and SERPINA1 genes)
  • AML/ALL rearrangement
  • AML1/ETO quantification
  • Angelman Syndrome (sequence analysis of UBE3A gene)
  • Autism related rearrangements (deletions/duplications of 15q11-13, 16p11, 22q13)
  • B cells (IGH) clonal rearrangement
  • Bardet-Biedl Syndrome
  • BCR/ABL (p190) quantification
  • BCR/ABL (p210) quantification
  • Becker Muscular Dystrophy (DMD gene)
  • Beckwith-Wiedemann Syndrome (methylation)
  • CADASIL (gene NOTCH3, exons 2 to 6 and 11)
  • Cardiofaciocutaneous Syndrome (frequent mutations of BRAF gene)
  • Carnitine Palmitoyltranferase II deficiency (CPT2 gene)
  • Celiac disease (HLA-DQ/DR)
  • Charcot-Marie-Tooth disease type 1A (microsatellite analysis)
  • Charcot-Marie-Tooth disease type 1B (sequence analysis of MPZ gene)
  • Charcot-Marie-Tooth disease type 1C (sequence analysis of LITAF gene)
  • Charcot-Marie-Tooth disease type 1E (sequence analysis of PMP22 gene)
  • Charcot-Marie-Tooth disease type 2B1 (sequence analysis of LMNA gene)
  • Charcot-Marie-Tooth disease type 2E/1F (sequence analysis of NEFL gene)
  • Charcot-Marie-Tooth disease type 2I/2J (sequence analysis of MPZ gene)
  • Charcot-Marie-Tooth disease type 2K/4A (sequence analysis of GDAP1 gene)
  • Charcot-Marie-Tooth disease X-linked (sequence analysis of GJB1 gene)
  • Chimerism after bone marrow transplantation
  • CLLU1 quantification
  • Cohen Syndrome (COH1 gene)
  • Colorectal Cancer Screening (methylation analysis of SEPT9 gene)
  • Congenital Deafness (deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 genes)
  • Congenital Nephrotic Syndrome type 1 - Finnish (NPHS1 gene)
  • Costello Syndrome (frequent mutations of HRAS gene)
  • Crigler-Najjar Syndrome (UGT1A1 gene)
  • Crohn disease (NOD2 gene)
  • Cystic Fibrosis (CFTR gene, delF508)
  • Cystic Fibrosis (frequent mutations of CFTR gene)
  • Cystic Fibrosis (sequence analysis of CFTR gene)
  • Dejerine-Sottas disease
  • Dementia with Lewy bodies
  • Detection by RT-PCR of del1p32 (SIL/TAL1)
  • Detection by RT-PCR of inv(16) (CBFB/MYH11)
  • Detection by RT-PCR of t(1;19) (E2A/PBX1)
  • Detection by RT-PCR of t(11;17) (PLZF/RARa)
  • Detection by RT-PCR of t(12;21) (TEL/AML1)
  • Detection by RT-PCR of t(15;17) (PML/RARa)
  • Detection by RT-PCR of t(4;11) (MLL/AF4)
  • Detection by RT-PCR of t(5;12) (TEL/PDGFRb)
  • Detection by RT-PCR of t(8;21) (AML1/ETO)
  • Detection by RT-PCR of t(9;22) (BCR/ABL)
  • Detection of aneuploidies on uncultured amniotic fluid by Multiplex-PCR
  • Detection of FIP1L1-PDGFRa fusion gene
  • Detection of ITD mutation on FLT3 gene
  • Detection of periodontal pathogens agents (panel of 5 main bacteria)
  • Detection of periodontal pathogens agents (panel of 6 bacteria)
  • Detection of point mutations on FLT3 gene (tyrosine kinase domain)
  • Determination of fetal Rh
  • Dilated Cardiomyopathy (frequent mutations of LMNA, MYH7 and TNNT2 genes)
  • Dilated Cardiomyopathy (X-linked, deletion/duplication analysis of DMD gene)
  • Dilated Cardiomyopathy (X-linked, sequence analysis of TAZ gene)
  • Drepanocytosis
  • Drug metabolism (CYP2D6, CYP2C9, CYP2C19, CYP3A4 and NAT2 genes)
  • Duchenne Muscular Dystrophy (DMD gene)
  • Dystonia sensitive to Dopa
  • E-cadherin (sequence analysis)
  • EGFR (sequence analysis)
  • Fabry disease (GLA gene)
  • Facioscapulohumeral Dystrophy
  • Familial Adenomatous Polyposis (APC gene)
  • Familial Amyloidotic Polyneuropathy (TTR gene)
  • Familial Amyloidotic Polyneuropathy (TTR gene, Met30)
  • Familial Breast/Ovarian Cancer (deletion/duplication analysis of BRCA1 and BRCA2 genes)
  • Familial Breast/Ovarian Cancer (sequence analysis of BRCA1 and BRCA2 genes)
  • Familial Hemochromatosis (frequent mutations of HFE gene)
  • Familial Mediterranean Fever (frequent mutations of MEFV gene)
  • Familial Spastic Paraplegia type 3, SPG3 (sequence analysis of SPG3 gene)
  • Familial Spastic Paraplegia type 4, SPG4 (sequence analysis of SPG4 gene)
  • Fragile X Syndrome (FMR1 gene)
  • Fraser Syndrome (FREM2 and FRAS1 genes)
  • Friedreich Ataxia
  • Friedreich-Like Ataxia with vitamin E deficiency
  • Frontotemporal Dementia
  • Frutose intolerance (ALDOB gene)
  • Gastric cancer (KRAS gene)
  • Gaucher disease (GBA gene)
  • Genetic Profile
  • Gilbert Syndrome (UGT1A1 gene)
  • Hepatic Adenoma (HNF1A gene)
  • Hereditary Hemochromatosis (frequent mutations of HFE gene)
  • Hereditary Non-polyposis Colorectal Cancer, type 1 and 2 , HNPCC (deletion/duplication analysis of MLH1 and MSH2 genes)
  • Hereditary Non-polyposis Colorectal Cancer, type 1 and 2 , HNPCC (sequence analysis of MLH1 and MSH2 genes)
  • Hereditary Pancreatic Cancer (KRAS gene)
  • Hereditary Pancreatitis (PRSS1 and SPINK1 genes)
  • Holt-Oram Syndrome (sequence analysis of TBX5 gene)
  • HPV genotyping (by PCR, greater sensitivity than hybrid capture)
  • Hypercholesterolemia (LDLR and APOB genes)
  • Hyperkalemic Periodic Paralysis (SCN4A gene)
  • Hypertrophic Cardiomyopathy (MYH7, MYBPC3, TNNT2 and TNNI3 genes)
  • Hypocondroplasia (FGFR3 gene)
  • Hypokalemic Periodic Paralysis (CACNA1S genes)
  • Idiopathic Nephrotic Syndrome (NPHS2 gene)
  • IGK clonal rearrangement
  • Infant Severe Myoclonic Epilepsy (SCN1A gene)
  • JAK2 gene analysis (mutations on exon 12)
  • JAK2 gene analysis (V617F mutation)
  • JAK2 quantification
  • KRAS (sequence analysis)
  • Lactose intolerance (gene MCM6)
  • Leber's Hereditary Optic Neuropathy (LHON)
  • LEOPARD Syndrome (frequent mutations of PTPN11 gene)
  • Li-Fraumeni Syndrome (TP53 gene)
  • Long QT Syndrome (frequent mutations of KCNQ1 and HERG genes)
  • Lowe Syndrome (OCRL1)
  • Marfan Syndrome (sequence analysis of FBN1, TGFBR1 and TGFBR2 genes)
  • Menkes disease (ATP7A gene)
  • Microsatellite Instability in Colorectal Cancer
  • Mitochondrial Congenital Deafness (frequent mutations of MTRNR1 and MTTS1 genes)
  • MLP gene analysis (W515L/K mutations)
  • MODY 1 (HNF4a gene)
  • MODY 2 (GCK gene)
  • MODY 3 (HNF1a gene)
  • Multiple Endocrine Neoplasia type 1 (MEN1 gene)
  • Myotonia Congenita AD, Becker disease (CLCN1)
  • Myotonia Congenita AR, Thomsen disease (CLCN1)
  • Myotonic Dystrophy type 2 (ZNF9 gene)
  • Nemaline Myopathy (ACTA1 and NEB genes)
  • Neurofibromatosis type I (deletion/duplication analysis of NF1 gene)
  • Neurofibromatosis type I (NF1 gene)
  • Neurofibromatosis type I (sequence analysis of NF1 gene)
  • Neurofibromatosis type II (NF2 gene)
  • N-MYC (sequence analysis)
  • Noncompaction of Left Ventricular Myocardium (TAZ gene, G4.5)
  • Nonsyndromic Congenital Deafness: DFNA3 (sequence analysis of GJB6 gene)
  • Nonsyndromic Congenital Deafness: DFNB1 (sequence analysis of GJB6 gene)
  • Nonsyndromic Congenital Deafness: DFNB1 and DFNA3 (sequence analysis of GJB2 gene)
  • Nonsyndromic Congenital Deafness: DFNB4 (sequence analysis of SLC26A4 gene)
  • Nonsyndromic Congenital Deafness: DFNB9 (sequence analysis of OTOF gene)
  • Noonan Syndrome (frequent mutations of PTPN11 gene)
  • Obesity (susceptibility markers)
  • Oculopharyngeal Muscular Dystrophy (PABPN1 gene)
  • Panel of Syndromes associated to Mental Retardation:
  • Parkinson disease 2, autosomal recessive juvenile (PARK 2 gene)
  • Paternity investigation
  • Pendred Syndrome (sequence analysis of SLC26A4 gene)
  • Periodontitis Susceptibility Test (polymorphisms on IL-1 gene)
  • PML/RARa quantification
  • Polycystic Kidney Disease (PKD1 and PKD2 genes)
  • Polycystic Renal disease with Hepatic illness (PKHD)
  • Prader Willi/Angelman Syndrome (methylation)
  • Premature ovarian failure (FMR1 gene)
  • Pycnodysostosis (gene CTSK)
  • Renal Glucosuria (sequence analysis of SLC5A2 gene)
  • Resistance to Imatinib (c-KIT)
  • Resistance to Imatinib due to BCR/ABL mutations
  • Resistance to Methotrexate (SLC19A1 gene)
  • Resistance to Methotrexate (MTHFR gene)
  • Resistance to Methotrexate (SLC19A1)
  • Retinitis Pigmentosa
  • Rett Syndrome (MECP2 gene)
  • Right Ventricular Arrhythmogenic Dysplasia (PKP2 gene)
  • Silver-Russell Syndrome (methylation analysis of H19 gene)
  • Sotos Syndrome (deletion/duplication analysis of NSD1 gene)
  • Sotos Syndrome (NSD1 gene)
  • Spastic Paralysis, Infantile-onset Ascending; IAHSP (ALS2 gene)
  • Spinal Muscular Atrophy (deletion/duplication analysis of SMN1 gene)
  • Spinal Muscular Atrophy (sequence analysis of SMN1 gene)
  • Steinert disease or Myotonic Dystrophy
  • Subtelomeric rearrangements by MLPA
  • Susceptibility to Cetuximab (KRAS)
  • Susceptibility to Irinotecan (UGT1A1)
  • Susceptibility to Sibutramin (GNB3 gene)
  • Susceptibility to Warfarin (CYP2C9 and VKORC1)
  • t(11; 14) (IGH/BCL1) rearrangement
  • t(14; 18) (IGH/BCL2) rearrangement
  • TCRB clonal rearrangement
  • TCRG clonal rearrangement
  • TEL/AML1 quantification
  • Thrombophilia markers (ACE, ins/del)
  • Thrombophilia markers (Antithrombin III, sequence analysis of SERPINC1 gene)
  • Thrombophilia markers (APOE; alleles 2, 3 and 4)
  • Thrombophilia markers (Factor II, G20210A)
  • Thrombophilia markers (Factor V Leiden, R506Q)
  • Thrombophilia markers (FGB, -455G/A)
  • Thrombophilia markers (MTHFR, C677T and A1298C)
  • Thrombophilia markers (PAI-1, 4G/5G)
  • Thrombophilia markers (Protein C deficiency, sequence analysis of PROC gene)
  • Thrombophilia markers (Protein S deficiency, sequence analysis of PROS1 gene)
  • Tomaculous Neuropathy (HNPP) (dosage analysis of PMP22 gene)
  • Tomaculous Neuropathy (HNPP) (microsatellite analysis)
  • TP53 (sequence analysis)
  • Tuberculous Sclerosis (sequence analysis of TSC1 and TSC2 genes)
  • Usher Syndrome (MYO7A, CDH23, PCDH15, USH1C and USH1G genes)
  • Von Hippel-Lindau Syndrome (VHL gene)
  • Waardenburg Syndrome (PAX3 gene)
  • Wilson disease (ATP7B gene)
  • WT1 quantification
  • Xenobiotics metabolism (GSTM1, GSTT1 and NAT2 genes)
  • X-Linked Congenital Deafness (sequence analysis of POU3F4 gene)
  • X-linked Hydrocephalus (X-L1CAM gene)
  • Y chromosome microdeletions