Dear ###USER_title1### ###USER_last_name###,
Centogene has further increased its broad diagnostic portfolio. We are committed to meet clinicians' needs at best in helping to improve patient's health. Therefore a large list of new genes has been added, e.g. SRP72, associated with familial bone marrow failure with early onset aplastic anemia or pancytopenia; FHL1, causing Emery-Dreifuss muscular dystrophy type 6; KBTBD13, associated with Nemaline myopathy type 6; IRX5, causing Hamamy syndrome, a severe disease with hypertelorism, brachycephaly and osteopenia.
Please see below a list of new genes being offered for genetic analyses at Centogene.
Centogene has also further increased its NGS panel analyses, covering a wide range of disorders. Correctly identifying these disorders is essential to ensure the appropriate care, that monitoring is provided and to preclude unnecessary testing.
Please see below an excerpt of new NGS panels being offered by Centogene.
- Breast ovarian cancer (BRCA1, BRCA2, BARD1, BRIP1, CHEK2, MRE11A, MSH6, NBN, PALB2, RAD50, RAD51C, TP53)
- Oculomotor apraxia (APTX, PIK3R5, SETX)
- Epileptic encephalopathy early infantile (ARX, CDKL5, KCNQ2, PCDH19, PLCB1, PNKP, SCN1A, SCN2A, SCN8A, SLC25A22, SPTAN1, STXBP1)
- Epilepsy childhood absence (CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1)
- Congenital myopathy (ACTA1, BIN1, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3)
- Epilepsy partial familial (CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, LGI1, SCN1A, SCN1B, SCN2A, SCN9A, SLC2A1, SRPX2)
- Epilepsy generalized with febrile seizures (GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A)
- Leukodystrophy (ABCD1, AIMP1, ARSA, ASPA, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, GALC, GFAP, GJC2, HEPACAM, HSD17B4, HSPD1, LMNB1, MLC1, NDUFV1, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PHYH, PLP1, POLR3A, POLR3B, PSAP, RNASET2, SCP2, SLC16A2, SOX10, TREM2, TYROBP)
- Ehlers Danlos syndrome (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB)
- Polycystic kidney (BICC1, PKD1, PKD2, NOTCH2)
- Joubert syndrome (AHI1, ARL13B, C5orf42, CC2D2A, CEP41, CEP290, EXOC8, INPP5E, NPHP1, OFD1, RPGRIP1L, TMEM67, TMEM138, TMEM216)
- Kallmann syndrome (CHD7, FGFR1, FGF8, KAL1, PROK2, PROKR2, SEMA3A)
Your Feedback is important to us
We always serve clinicians' needs as the first priority. Your feedback is greatly appreciated. Please contact us anytime for suggestions and assistance.
Senior Director Strategic Communication