docexpanded its portfolio
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expanded its portfolio
CentoBrief January 2015 :: newly added single gene analyses and NGS panels CENTOGENE has recently added the following single gene tests and Next Generation Sequencing panels to its portfolio. CENTOGENE‘s NGS panel composition always reflects the clinical relevance to the specific disease phenotype. All of our NGS panels are processed with a standardized quality scheme and internal controls. Benefit from our medical expertise and first class genetic testing. New single genes Disease Metabolic Diseases Aspartylglucosaminuria Succinic semialdehyde dehydrogenase deficiency Hypophosphatasia, adult Hypophosphatasia, childhood Hypophosphatasia, infantile Odontohypophosphatasia AMP deaminase deficiency, erythrocytic Coproporphyria Dihydropyrimidine dehydrogenase deficiency Glutamate formiminotransferase deficiency Leukocyte adhesion deficiency Leukocyte adhesion deficiency Pyruvate dehydrogenase lipoic acid synthetase deficiency Prolidase deficiency Lipodystrophy generalized type 4 Combined D-2- and L-2-hydroxyglutaric aciduria Hyperoxaluria, SLC26A6 related Tyrosinemia type 2 Gene AGA ALDH5A1 ALPL AMPD3 CPOX DPYD FTCD ITGB1 ITGB2 LIAS PEPD PTRF SLC25A1 SLC26A6 TAT Neurological Diseases Autism spectrum disorder Autism spectrum disorder Autism, ATP1B4 related Autism spectrum disorder Schizophrenia, CALR related Corticobasal Degeneration, CFL1 related DYT11 Myoclonic dystonia Mental retardation, x-linked, EFHC2 related Mitochondrial DNA depletion syndrome type 13 Autism, FCRL6 related Cerebral palsy type 1, spastic quadriplegic Mental retardation, autosomal dominant type 1 Mitochondrial DNA depletion syndrome type 11 Mental retardation, X-linked type 101 Inclusion body myopathy Mental retardation, autosomal recessive type 46 Leigh syndrome due to mitochondrial complex I deficiency Early infantile epileptic encephalopathy type 20 Adrenoleukodystrophy, x-linked Autism spectrum disorder Gaze palsy, horizontal, with progressive scoliosis Episodic pain syndrome type 2, familial Episodic pain syndrome type 3, familial Early infantile epileptic encephalopathy type 25 Mental retardation X-linked, SMARCA1 related Mental retardation, autosomal recessive type 14 McLeod syndrome with or without chronic granulomatous disease AHNAK2 ANKS3 ATP1B4 BPIFA3 CALR CFL1 DRD2 EFHC2 FBXL4 FCRL6 GAD1 MBD5 MGME1 MID2 MYH2 NDST1 NDUFA12 PIGA PLXNB3 RABGGTA ROBO3 SCN10A SCN11A SLC13A5 SMARCA1 TECR XK Ophthalmological Diseases Progressive external ophthalmoplegia with mitochondrial deletions type 6 Cataract, pulverulent or cerulean, with or without microcornea Gaze palsy, horizontal, with progressive scoliosis DNA2 MAF ROBO3 Ear, Nose and Throat Diseases Primary ciliary dyskinesia type 10 DNAAF2 New single genes Disease Bone, Skin and Immune Diseases Gene Immunodeficiency type 2, with hyper-IgM Spondylocostal dysostosis, autosomal recessive type 1 Cutis laxa, autosomal dominant Cole disease Kindler syndrome Radioulnar synostosis, FGFRL1 related Telangiectasia hereditary hemorrhagic type 5 Hypertrophic osteoarthropathy type 1 Systemic lupus erythematosus, susceptibility to Hypotrichosis type 7 Multicentric osteolysis, nodulosis, and arthropathy Cold autoinflammatory syndrome type 2 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne Herpes simplex encephalitis type 2, susceptibility to Osteogenesis imperfecta type 14 Immunodeficiency type 5, with hyper IgM AICDA DLL3 ELN ENPP1 FBLIM1 FGFRL1 GDF2 HPGD ITGAM LIPH MMP2 NLRP12 PSTPIP1 TLR3 TMEM38B UNG Cardiological and Lung Diseases Cardiac defects, CNOT3 related Cardiomyopathy, dilated type 1LL Bicuspid aortic valve Diaphragmatic hernia type 3 Tetralogy of Fallot CNOT3 PRDM16 TIMP1 ZFPM2 Vascular Diseases Polyarteritis nodosa, childhood-onset Supravalvar aortic stenosis Arterial calcification type 1, generalized, infantile Coarctation of the aorta Capillary malformation-arteriovenous malformation CECR1 ELN ENPP1 MCTP2 RASA1 Liver, Kidney and Endocrinological Diseases Rickets, vitamin D 25-hydroxylation-deficient, type 1B Hypophosphatemic rickets, autosomal recessive type 2 Factor XIIIA deficiency Pancreatitis, chronic, protection against CYP2R1 ENPP1 F13A1 PRSS2 Tumoral and Haematological Diseases ACIN1 related tumors Leukemia/Lymphoma, B-cell type ERG related tumors Platelet dense granule secretion defect, excessive bleeding Colorectal cancer, somatic ACIN1 BCL3 ERG FLI1 MXRA5 Malformation and Retardation Syndromes Bohring-Opitz syndrome Orofaciodigital syndrome type 14 Craniofacial and neuro-developmental abnormalities Split-hand/foot malformation type 1 with sensorineural hearing loss Ellis-van Creveld syndrome Ellis-van Creveld syndrome Prolidase deficiency Schinzel-Giedion midface retraction syndrome Phelan-McDermid syndrome Split-hand/foot malformation type 6 McLeod syndrome with or without chronic granulomatous disease ASXL1 C2CD3 DISP1 DLX5 EVC EVC2 PEPD SETBP1 SHANK3 WNT10B XK New NGS panels or extended NGS panels Panel Metabolic Diseases Urea Cycle disorder panel (expanded) Genes ARG1 ASL ASS1 CPS1 NAGS Neurological Diseases Autism spectrum disorders panel (new) Dopa-responsive dystonia panel (new) Lissencephaly panel (expanded) EN2 MECP2 NLGN3 NLGN4X PDE8B RPL10 GCH1 TH SPR ARX DCX NDE1 PAFAH1B1 POMT1 POMT2 RELN TUBA1A YWHAE Ophthalmological Diseases Ophthalmoplegia (progressive external) panel (expanded) C10ORF2 DNA2 OPA1 POLG POLG2 RRM2B SLC25A4 TYMP Bone, Skin and Immune Diseases Periodic fever syndrome panel (new) Waardenburg syndrome panel (new) ELANE LPIN2 MEFV MVK NLRP3 PSTPIP1 TNFRSF1A EDN3 EDNRB MITF PAX3 SNAI2 SOX10 TYR New NGS panels or extended NGS panels Panel Liver, Kidney and Endocrinological Diseases Kallmann syndrome panel (expanded) Meckel syndrome panel (new) Genes CHD7 FGFR1 FGF8 GNRHR GNRH1 KAL1 KISS1R PROK2 PROKR2 SEMA3A TAC3 TACR3 MKS1 TMEM216 TMEM67 CEP290 RPGRIP1L CC2D2A NPHP3 TCTN2 B9D1 B9D2 TMEM231 Malformation and Retardation Syndromes Ashkenazi panel (advanced) (expanded) GBA (8 mutations) CFTR (26 mut) HEXA (7 mut) IKBKAP (2 mut) ASPA (4 mut) G6PC (2 mut) ABCC8 (2 mut) MCOLN1 (2 mut) BCKDHB (3 mut) FANCC (2 mut) DLD (2 mut) SMPD1 (4 mut) CLRN1 (1 mut) PCDH15 (1mut) BLM (1 mut) NEB (1 mut) BRCA1 (2 mut) BRCA2 (1 mut)