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)