Diagnosis of genetic disorders according to organ systems - DIAGSURE

Diagsure

Diagsure is a method of sequencing genes that has practical clinical value. Synthesizing the most up-to-date databases and relevant scientific literature, it increases the probability of correct medical diagnosis by identifying clinically important genes.

177 panels with 13 specialties and more than 3000 genes analyzed.

Scope of diagnostic genetic tests

Cardiology

Genetic diagnosis is becoming standard practice in the field of cardiology. It is recommended in the AHA, HRS-EHRA, ESC and CCS protocols. Diagsure has been shown to be cost-effective compared to conventional clinical screening.

Genetic diagnosis is the most effective way to group hereditary cardiovascular diseases, optimal timing of surgical intervention for aortic disease, differential diagnosis in sarcomere, and familial risk stratification for sudden cardiac death.

CARDIOLOGYNO. OF GENESGENES
TM-01 Arrhythmia45ABCC9, AKAP9, ANK2, BAG3, CACNA1C, CACNB2, CALM1, CASQ2, CAV3,  DBH, DES, DSC2, DSG2, DSP, FLNC, GATA6, HADHA, HCN4, JUP, KCNA5,  KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, MYH6, MYH7,  NKX2-5, PKP2, RYR2, SALL4, SCN1B, SCN3B, SCN5A, TBX5, TGFB3, TMEM43,  TNNI3, TNNT2, TRDN, TRPM4, TTN
TM-02 Cardiomyopathy122AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL,  ALMS1, ANO5, APOA1, BAG3, BRAF, CALR3, CAPN3, CASQ2, CBL, COX15,  CPT2, CRYAB, CSRP3, DBH, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP,  DTNA, DYSF, EMD, ETFA, ETFB, ETFDH, FHL1, FKRP, FKTN, FLNC, FOXRED1,  FXN, GAA, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GUSB, HADHA, HCN4,  HFE, HRAS, ISPD, JPH2, JUP, KRAS, LAMA2, LAMP2, LDB3, LMNA, MAP2K1,  MAP2K2, MLYCD, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN,  NEXN, NF1, NRAS, PCCA, PCCB, PKP2, PLEC, PNPLA2, PTPN11, RAF1, RBM20,  RMND1, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SGCA, SGCB, SGCD,  SGCG, SHOC2, SLC22A5, SLC25A4, SLC25A20, SOS1, SPRED1, TAB2, TAZ,  TBX5, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2,  TPM1, TRIM32, TSFM, TTN, TTR, VCL, VCP, VPS13A, XK
TM-03 Aorta Disease36ABCC6, ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ALDH18A1,  CBS, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN,  ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, MYH11, NOTCH1, PLOD1,  SKI,SLC2A10, SLC39A13, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2,  ZNF469
TM-04 Congenital Structural  heart disease49ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ADAMTS10, ADAMTS17,  B3GAT3, BCOR, BMPR2, CBL, CHD7, CRELD1, CTC1, DHCR7, EFTUD2, ELN,  ENG, FLNA, GATA4, GATA6, GDF1, GJA1, GJA5, GPC3, HOXA1, HRAS, JAG1,  MYCN, NF1, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NSD1, PITX2,  RBM10, SALL4, TAB2, TBX1, TBX5, TBX20, TFAP2B, TLL1, ZFPM2, ZIC3

TM-05 Pulmonary Artery

hypertension

9ACVRL1, BMPR2, CAV1, ENG, FOXF1, KCNA5, NFU1, SMAD4, TBX4
TM-06 Marfan Syndrome28ABL1, ADAMTS10, ADAMTS17, ADAMTSL4, CBS, COL1A1, COL1A2, COL2A1,  COL3A1, COL5A1, COL5A2, COL11A1, COL11A2, EFEMP2, FBN1, FBN2,  MED12, PLOD1, SKI, SLC2A10, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2,  UPF3B, VCAN
TM-07 Noonan Syndrome16CTB, ACTG1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, NSUN2,  PTPN11, RAF1, SHOC2, SOS1, SPRED1
TM-08 Ehlers-Danlos Syndrome30ABCC6, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, CBS, CHST14,  COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, EFEMP2,  ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, PLOD1, PYCR1, SLC39A13, SMAD3,  TGFB2, TGFBR1, TGFBR2, ZNF469
TM-09 Hereditary hemorrhagic  telangiectasia3ACVRL1, ENG, SMAD4
TM-10 Hyperlipidemia15ABCA1, ABCG5, ABCG8, ALMS1, APOA1, APOA5, APOB, APOC2, APOE, LDLR,  LDLRAP1, LIPA, LMF1, LPL, PCSK9
Dermatology
Genetic diagnosis is the most effective way to group hereditary dermatological diseases, the backbone of personalized treatment and clinical decision-making. Detection of pathogenic mutations informs family counseling, creates opportunities for preventive treatment and recommendations for lifestyle, and routine follow-up by a physician.
DERMATOLOGYNO. OF GENESGENES
DL-01 Adams-Oliver Syndrome5ARHGAP31, DOCK6, NOTCH1, RBPJ, UBR1
DL-02 Albinism19AP3B1, BLOC1S6, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST,  MC1R, MITF, MLPH, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1
DL-03 Cutis Laxa10ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1,  SLC2A10
DL-04 Dyskeratosis Congenita8AK2, CTC1, DKC1, NOP10, TERT, TINF2, USB1, WRAP53
DL-05 Ectodermal Dysplasia20BCS1L, CDH3, DSP, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6,  HOXC13, HR, IFT122, JUP, MPLKIP, PORCN, TP63, WDR35, WNT10A
DL-06 Ehlers-Danlos Syndrome30ABCC6, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, CBS, CHST14,  COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, EFEMP2,  ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, PLOD1, PYCR1, SLC39A13, SMAD3,  TGFB2, TGFBR1, TGFBR2, ZNF469
DL-07 Epidermolysis Bullosa22ATP2C1, COL7A1, COL17A1, DSG1, DSG2, DSG4, DSP, DST, FERMT1, GRIP1,  ITGA3, ITGA6, ITGB4, KRT1, KRT5, KRT14*, LAMA3, LAMB3, LAMC2, PKP1,  PLEC, TGM5
DL-08 Hereditary Acrodermatitis  Enteropathica1SLC39A4
DL-09 Hermansky-Pudlak Syndrome20BCA3, AP3B1, BLOC1S6, DKC1, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5,  HPS6, LYST, OCA2, SFTPB, SFTPC, SLC45A2, TERT, TINF2, TYR, TYRP1
DL-10 Ichthyosis27ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, CYP4F22, EBP, ERCC2, FLG,  GJB2, GJB3, GJB4, KRT1, KRT2, KRT10, LOR, MBTPS2, MPLKIP, NIPAL4, PEX7,  PHYH, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1
DL-11 Neurofibromatosis8KIT, KITLG, NF1, NF2, PTPN11, RAF1, SMARCB1, SPRED1
DL-12 Pachyonychia Congenita5AAGAB, KRT6A, KRT16, KRT17, TRPV3
DL-13 Palmoplantar Keratoderma22AAGAB, CTSC, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, KRT1, KRT6A, KRT14,  KRT16, KRT17, LOR, MBTPS2, PKP1, SLURP1, TRPV3, WNT10A, GJA1, DSC2
DL-14 Progeria and Progeroid  Syndrome17AGPAT2, ALDH18A1, B4GALT7, BLM, BSCL2, COL3A1, ERCC2, ERCC4, ERCC5,  ERCC6, ERCC8, GORAB, LMNA, PYCR1, RECQL4, WRN, ZMPSTE24
DL-15 Waardenburg Syndrome7EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10
Ear, Nose & Throat
Genetic diagnosis is becoming a standard practice in hearing loss and deafness, as recommended by the ACMG protocol. Many genes are associated with hereditary hearing loss and deafness, and pathogenic variants of these genes may be responsible for these conditions. Thus, genetic diagnosis is key to understanding genetic pathways and disease prognosis, informing personalized treatment and clinical decisions, as well as planning for family members.
EAR, NOSE & THROATNO. OF GENESGENES
TMH-01 Alport Syndrome6CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
TMH-02 Branchio-Oto-Renal (BOR) Syndrome4EYA1, SIX1, SIX5, TFAP2A
TMH-03 Comprehensive Hearing Loss and Deafness146ABHD12, ACTG1, AIFM1, ALMS1, ANKH, ATP6V1B1, BCS1L, BSND,  BTD, CABP2, CACNA1D, CCDC50, CD151, CDH23, CDKN1C,  CEACAM16, CHD7, CHSY1, CIB2, CLDN14, CLRN1, COCH,  COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2,  COL9A3, COL11A1, COL11A2, DCAF17, DFNA5, DFNB31,  DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3,  EDNRB, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXI1, GATA3,  GIPC3,GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, HARS, HARS2,  HGF, HOXB1, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1,  KCNQ4, KIT, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA,  MARVELD2, MET, MGP, MITF, MSRB3, MYH9, MYH14, MYO3A,  MYO6, MYO7A,MYO15A, NDP,NLRP3, OTOF, OTOG, OTOGL,PAX3,  PCDH15, PDZD7, PEX1, PEX6, PEX26, POLR1C, POLR1D, POU3F4,  POU4F3, PRPS1, RDX, RMND1, RPS6KA3, SALL1, SALL4, SEMA3E,  SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5,  SLC29A3, SLC33A1, SLC52A2, SLC52A3, SMAD4, SMPX, SNAI2,  SOX10, SUCLA2, SUCLG1, TBC1D24, TCOF1, TECTA, TFAP2A,  TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TRMU,  TSPEAR, TYR, USH1C, USH1G, USH2A, VCAN, WFS1
TMH-04 Hereditary Hemorrhagic Telangiectasia (HHT)4ACVRL1, ENG, RASA1, SMAD4
TMH-05 Pendred Syndrome3FOXI1, KCNJ10, SLC26A4
TMH-06 Stickler Syndrome8COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LRP2,  VCAN
TMH-07 Usher Syndrome11CIB2, CLRN1, DFNB31, HARS, MYO7A, PCDH15, PDZD7, PEX1,  USH1C, USH1G, USH2A
TMH-08 Waardenburg Syndrome7EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10
Endocrinology
The applicability of genetic testing in endocrinology is very high, bringing great economic benefits to the healthcare system. For example, it has been typically applied in thyroid endocrine disorders and glucocorticoids. Genetic testing supports accurate molecular diagnoses, treatment optimization, and recognizing other manifestations of the suspected syndrome. Identifying the disease-causing gene and its heredity mechanism allows at-risk members to perform necessary tests and make reproductive plans.
ENDOCRINOLOGYNO. OF GENESGENES
NT-01 Monogenic Diabetes18HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1,  NEUROG3, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC2A2, SLC16A1,  WFS1
NT-02 Abnormal Genitalia/Disorders of Sex  Development45AMH, AMHR2, AR, ARX, ATRX, BCOR, CDKN1C, CEP41, CHD7, CREBBP,  CYP11A1, CYP11B1, CYP19A1, CYP21A2, DHCR7, DHH, DYNC2H1,  ERCC3, FGF8, FGFR1, FIG4, FRAS1, GATA4, GNRHR, HSD3B2,  HSD17B3, IRF6, KISS1R, LHCGR, MAMLD1, MAP3K1, MKS1, NR5A1,  NR0B1, POR, PROK2, PROKR2, RSPO1, SOX9, SRD5A2, SRY, STAR,  TACR3, WT1, ZFPM2
NT-03 Congenital Adrenal Hyperplasia7CYP11A1, CYP11B1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR
NT-04 Glucocorticoid Deficiency6MC2R, MRAP, NNT, NR3C1, POMC, STAR
NT-05 Hyperparathyroidism8AIRE, CASR, CDC73, CDKN1B, GCM2, MEN1, PTH, RET
NT-06 Hypoglycemia, Hyperinsulinism and  Ketone Metabolism50ABCC8, ACAT1, ACSF3, AGL, ALDOA, ALDOB, EPM2A, FBP1, G6PC,  GAA, GBE1, GCK, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2,  HNF1A, HNF4A, INSR, KCNJ11, LAMP2, LDHA, MPV17, NHLRC1,  OXCT1, PC, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2,  PHKB, PHKG2, PTF1A, PYGL, PYGM, SLC2A2, SLC16A1, SLC37A4,  GLUD1, NEUROD1, PAX2, PAX4, PAX6, INS, PCSK1
NT-07 Hypothyroidism and Resistance  to Thyroid Hormone21DUOX2, DUOXA2, FOXE1, GNAS, HESX1, IGSF1, NKX2-1, NKX2-5,  PAX8, POU1F1, PROP1, SECISBP2, SLC5A5, SLC16A2, SLC26A4, TG,  THRA, THRB, TPO, TSHB, TSHR
NT-08 Kallmann Syndrome8CHD7, FGF8, FGFR1, GNRHR, KISS1R, PROK2, PROKR2, TACR3
NT-09 MODY: Maturity Onset Diabetes  of the Young12ABCC8, BLK, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11,  PAX4, PDX1, RFX6
NT-10 Monogenic Obesity31ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12,  CEP290, CUL4B, GNAS, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1,  NR0B2, NTRK2, PCSK1, PHF6, POMC, PPARG, SDCCAG8, SIM1,  TRIM32, TTC8, VPS13B, WDPCP
NT-11 Premature Ovarian Failure14BMP15, CYP19A1, FOXL2, FSHR, GALT, GNAS, LHCGR, LMNA, NOBOX,  NR5A1, POLG, POR, STAR, WT1
Gastroenterology
Genetic diagnosis is the most effective way to group digestive diseases such as idiopathic or hereditary pancreatitis. In addition to supporting personalized treatment and management strategies, gene sequencing is also useful for predicting patients’ additional risks, counseling families at risk, creating opportunities for preventive treatment, and recommending lifestyle, routine follow-ups by a physician.
GASTROENTEROLOGYNO. OF GENESGENES
TH-01 Cholestasis43ABCB4, ABCB11, ABCC2, AKR1D1, ATP8B1, BAAT, CFTR, CYP7B1,  DGUOK, EPCAM, FAH, HSD3B7, JAG1, LCT, LMF1, MKS1, MYO5B,  NEUROG3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, PEX1,  PEX2, PEX5, PEX6, PEX10, PEX12, PEX26, SERPINA1, SLC25A13,  SLC26A3, SMPD1, SPINT2, TJP2, TMEM216, TRMU, TTC37, UGT1A1,  VIPAS39, VPS33B
TH-02 Congenital Diarrhoea21ADAM17, CYP27A1, EPCAM, FOXP3, GUCY2C, IL10RA, IL10RB, LCT,  LIPA, MVK, MYO5B, NCF2, NEUROG3, SAR1B, SI, SLC5A1, SLC10A2,  SLC26A3, SPINT2, TTC37, XIAP
TH-03 Congenital Hepatic Fibrosis49AHI1, ARL6, ARL13B, B9D1, B9D2, BAAT, BBS1, BBS2, BBS4, BBS5,  BBS7, BBS9, BBS10, BBS12, C5ORF42, CC2D2A, CEP41, CEP164,  CEP290, GLIS2, INPP5E, INVS, IQCB1, KIF7, LIPA, MKKS, MKS1,  NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKD2, PKHD1, RPGRIP1L,  TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, TMEM231,  TMEM237, TRIM32, TTC8, TTC21B, WDR19, WDR35, ZNF423
TH-04 Gastrointestinal Atresia12CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1, MYCN,  PTF1A, RFX6, SOX2
TH-05 Hirschsprung Disease11BDNF, EDN3, EDNRB, L1CAM, MITF, NRTN, PAX3, PHOX2B, RET,  SOX10, ZEB2
TH-06 Pancreatitis5APOA5, CFTR, PRSS1, SPINK1, UBR1
TH-07 Polycystic Liver Disease5LRP5, PKD1, PKD2, PRKCSH, SEC63
Hematology
An accurate genetic test is required for the diagnosis of hematopoietic cancer and to establish the optimal treatment for the patient. Identifying abnormal genes and genetic pathways warns families about health risks and the need to get tested and plan accordingly.
HEMATOLOGYNO. OF GENESGENES
HH-01 Anemia65ABCB7, ADAMTS13, ALAS2, AMN, ANK1, ATM, ATR, ATRX, BLM,  BRCA2, BRIP1, CDAN1, CLCN7, CUBN, CYB5R3, EPB42, ERCC4,  FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI,  FANCL, FANCM, G6PD, GATA1, GPI, GSS, HBB, HFE, KLF1, LPIN2,  MTR, NBN, NT5C3A, PALB2, PC, PDHA1, PDHX, PKLR, PUS1,  RAD51C, REN, RHAG, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26,  SEC23B, SLC4A1, SLC19A2, SLC25A38, SLX4, SPTA1, SPTB, TCN2,  TF, THBD, TMPRSS6, YARS2
HH-02 Bleeding Disorder/Coagulopathy49ABCG8, ADAMTS13, ANKRD26, AP3B1, BLOC1S6, DTNBP1, ETV6,  F2, F5, F7, F8, F9, F10, F11, F12, F13A1, FGA, FGB, FLNA, GATA1,  GGCX, GP1BA, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6,  ITGA2, ITGA2B, ITGB3, LMAN1, MASTL, MCFD2, MPL, MYH9,  NBEAL2, P2RY12, PROC, PROS1, RUNX1, SERPINC1, THBD, THPO,  TUBB1, VKORC1, VWF, WAS
HH-03 Bloom Syndrome1BLM
HH-04 Bone Marrow Failure Syndrome101ACTB, AK2, ANKRD26, AP3B1, ATM, ATR, BLM, BLOC1S6, BRAF,  BRCA1, BRCA2, BRIP1, CBL, CDKN2A, CEBPA, CSF2RA, CSF3R,  CTC1, CTSC, CXCR4, DKC1, DTNBP1, ELANE, EPCAM, ERCC4, ETV6,  FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG,  FANCI, FANCL, FANCM, FAS, FASLG, G6PC3, GATA1, GATA2, GFI1,  HAX1, HPS1, HPS3,HPS4 ,HPS5, HPS6, HRAS, IFNGR2, ITK, KRAS,  LAMTOR2, LYST, MAGT1, MAP2K1, MAP2K2, MLH1, MPL, MSH2,  MSH6, MYO5A, NBN, NF1, NOP10, NRAS, PALB2, PMS2, PRF1,  PTPN11, RAB27A, RAC2, RAD51C, RECQL4, RPL5, RPL11, RPL35A,  RPS19, RPS24, RPS26, RUNX1, SAMD9, SH2D1A, SLC37A4, SLX4,  SOS1, SRP72, STX11, STXBP2, TERT, THPO, TINF2, TP53, UNC13D,  USB1, VPS13B, WAS, WIPF1, WRAP53, XIAP
HH-05 Coagulation Factor Deficiency15F2, F5, F7, F8, F9, F10, F11, F12, F13A1, FGA, FGB, GGCX, LMAN1,  VKORC1, VWF
HH-06 Congenital Neutropenia17ACTB, CSF2RA, CSF3R, CTSC, ELANE, G6PC3, GATA2, GFI1, HAX1,  IFNGR2, LAMTOR2, LYST, RAC2, SLC37A4, SRP72, VPS13B, WAS
HH-07 Diamond-Blackfan anemia7GATA1, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26
HH-08 Dyskeratosis Congenita8AK2, CTC1, DKC1, NOP10, TERT, TINF2, USB1, WRAP53
HH-09 Fanconi anemia21ATM, ATR, BLM, BRCA2, BRIP1, CXCR4, ERCC4, FANCA, FANCB,  FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM,  NBN, PALB2, RAD51C, SLX4
HH-10 Hereditary Leukemia32ANKRD26, ATM, BLM, BRAF, BRCA1, BRCA2, CBL, CDKN2A, CEBPA,  DKC1 EPCAM, ETV6, FANCA, GATA2, HRAS, KRAS, MAP2K1, MAP2K2,  MLH1, MSH2, MSH6, NBN, NF1, NRAS, PMS2, PTPN11, RUNX1,  SOS1, SRP72, TERT, TINF2, TP5
HH-11 Hermansky-Pudlak Syndrome20ABCA3, AP3B1, BLOC1S6, DKC1, DTNBP1, GPR143, HPS1, HPS3,  HPS4, HPS5, HPS6, LYST, OCA2, SFTPB, SFTPC, SLC45A2, TERT,  TINF2, TYR, TYRP1
HH-12 Platelet Function Disorder17AP3B1, BLOC1S6, DTNBP1, GP1BA, GP9, HPS1, HPS3, HPS4, HPS5,  HPS6, ITGA2B, ITGB3, NBEAL2, P2RY12, RUNX1, THPO, WIPF1
HH-13 Red Blood Cell Membrane Disorder7ANK1, EPB41, EPB42, RHAG, SLC4A1, SPTA1, SPTB
HH-14 Thrombocytopenia22ABCG5, ABCG8, ADAMTS13, ANKRD26, ETV6, FLNA, GATA1, GP1BA,  GP9, HOXA11, ITGA2, ITGA2B, ITGB3, MASTL, MPL, MYH9, NBEAL2,  RUNX1, THBD, TUBB1, WAS, WIPF1
Immunology
Accurate genetic diagnosis of immunodeficiency with a detailed disease subtype is important in rare disease classification and improvement of treatment as well as follow-up strategies for patients and their family. It also assists in counseling at-risk families, facilitating preventive treatment and lifestyle recommendations, as well as routine follow-ups by a physician.
IMMUNOLOGYNO. OF GENESGENES
MD-01 Autoinflammatory Syndrome24ACP5, ADAR, CARD14, ELANE, IL1RN, IL36RN, LPIN2, MEFV, MVK,  NLRP1, NLRP3, NLRP12, NOD2, PLCG2, PSENEN, PSMB8,  PSTPIP1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC29A3,  TNFRSF1A, TREX1
MD-02 Bone Marrow Failure Syndrome2WRAP53, XIAP
MD-03 Chronic Granulomatous Disease6CYBA, CYBB, G6PD, NCF2, NCF4, NOD2
MD-04 Complement System Disorder43ADIPOQ, C1QA, C1QB, C1QC, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9,  CCDC39, CCDC40, CCDC103, CD59, CFD, CFH, CFI, CFP, COLEC11,  CR2, DGKE, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11, DNAI1,  DNAI2, DNAL1, FCN3, LRRC6, MASP1, MASP2, NME8, OFD1, PIGA,  RSPH4A, RSPH9, SERPING1, THBD
MD-05 Congenital Neutropenia17ACTB, CSF2RA, CSF3R, CTSC, ELANE, G6PC3, GATA2, GFI1, HAX1,  IFNGR2, LAMTOR2, LYST, RAC2, SLC37A4, SRP72, VPS13B, WAS
MD-06 Primary Immunodeficiency190ACP5, ACTB, ADA, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, ATM, BCL10,  BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1S, C2, C3, CARD9, CARD14, CASP8,  CASP10, CD3D, CD3E, CD3G, CD8A, CD19, CD40, CD40LG, CD55, CD59,  CD79A, CD79B, CD81, CD247, CEBPE, CFD, CFH, CFI, CFP, CFTR, CHD7,  CIITA, CLCN7, COLEC11, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1,  CTLA4, CTSC, CXCR4, CYBA, CYBB, DCLRE1C, DGKE, DKC1, DNMT3B,  DOCK8, ELANE, FADD, FAS, FASLG, FERMT3, FOXN1, FOXP3, G6PC3, G6PD,  GATA2, GFI1, HAX1, ICOS, IFNAR2, IFNGR1, IFNGR2, IGLL1, IL1RN, IL2RA,  IL2RG, IL7R, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL21R, IL36RN, IRAK4,  IRF8, ITGB2, ITK, JAK3, KRAS, LAMTOR2, LIG4, LPIN2, LRBA, LYST, MAGT1,  MASP1, MEFV, MOGS, MRE11A, MVK, MYD88, MYO5A, NBN, NCF2, NCF4,  NCSTN, , NFKBIA, NHEJ1, NLRP1, NLRP3, NLRP12, NOD2, NOP10, NRAS,  OFD1, ORAI1, PEPD, PIGA, PLCG2, PMS2, PNP, PRF1, PRKDC, PSENEN  ,PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RECQL4, RFX5,  RFXANK, RFXAP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, SAMD9,  SAMHD1, SERPING1, SH2D1A, SLC7A7, SLC29A3, SLC35C1, SLC37A4,  SLC46A1, SMARCAL1, SP110, SPINK5, SRP72, STAT1, STAT3, STAT5B, STIM1  ,STK4, STX11, STXBP2, TAP2, TBX1, TCN2, TERT, THBD, TINF2, TMC6, TMC8,  TNFRSF1A, TNFRSF13B, TREX1, TYK2, UNC13D, UNC93B1, UNC119, UNG,  USB1, VPS13B, WAS, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24
Metabolic Disorders
Genetic diagnosis is the most effective way to group metabolic diseases, providing the necessary information for personalized treatment and monitoring strategies. With coenzyme Q10 deficiency, accurate diagnosis offers the opportunity for patients to respond to CoQlO treatment. Furthermore, it also assists in counseling at-risk families, facilitating preventive treatment and lifestyle recommendations, as well as routine follow-ups by a physician.
METABOLIC DISORDERSNO. OF GENESGENES
CH-01 Aicardi-Goutières Syndrome6ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
CH-02 Congenital and Familial Lipodystrophy9AGPAT2, AKT2, BSCL2, CAV1, LMNA, PLIN1, PPARG, PTRF,  ZMPSTE24
CH-03 Congenital Disorders of Glycosylation39ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, ALG13, ATP6V0A2,  B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS,  DOLK, DPAGT1, DPM1, DPM2, DPM3, GNE, MAGT1, MAN1B1,  MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, RFT1, SEC23B, SLC35A1,  SLC35C1, SRD5A3*, TMEM165, TUSC3
CH-04 Congenital Mono – and Disaccharide Disorders9ALDOB, GALE, GALK1, GALT, LCT, SI, SLC2A1, SLC2A2, SLC5A1
CH-05 Creatine Metabolism Deficiency3GAMT, GATM, SLC6A8
CH-06 Cystinuria2SLC3A1, SLC7A9
CH-07 Fatty Acid Oxidation Syndrome24ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL,  ALDH5A1, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HADHA,  HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, PPARG, SLC22A5,  SLC25A20, TAZ
CH-08 Glycogen storage Disorder25AGL, ALDOA, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2,  LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1,  PHKA2, PHKB, PHKG2, PYGL, PYGM, SLC2A2, SLC37A4
CH-09 Hereditary Hemochromatosis5HAMP, HFE, HFE2, SLC40A1, TFR2
CH-10 Homocystinuria4CBS, MTHFR, MTR, MTRR
CH-11 Hyperammonemia and Urea Cycle Disorder47ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB,  CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUL, HADHA,  HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2,  MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, NBAS, OAT,  OTC, PC, PCCA, PCCB, SLC7A7, SLC22A5, SLC25A13, SLC25A15,  SLC25A20, SUCLA2, SUCLG1, TMEM70, UMPS
CH-12 Hyperphenylalaninemia5GCH1, PAH, PCBD1, PTS, QDPR
CH-13 Lysosomal Disorders and Mucopolysaccharidosis99ABCC8, ACY1, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ANTXR2,  ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BTD, CLN3, CLN5, CLN6,  CLN8, COL2A1, COL11A2, CTNS, CTSA, CTSC, CTSD, CTSK, DHCR7,  DPYD, DYM, ETFA, ETFB, ETFDH, FOLR1, FUCA1, GAA, GALC, GALNS,  GAMT, GBA, GCDH, GLA, GLB1, GLDC, GM2A, GNE, GNPTAB, GNPTG,  GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HRAS, HYAL1, IDS, IDUA,  L2HGDH, LAMA2, LAMP2, LDB3, LIPA, MAN1B1, MAN2B1, MANBA,  MCOLN1, MFSD8, MOCS1, MOCS2, MYOT, NAGA, NAGLU, NPC1,  NPC2, PEX1, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX16,  PEX26, PGK1, PHYH, PPT1, PRODH, PSAP, QDPR, RAI1, SGSH,  SLC17A5, SLC25A15, SLC46A1, SMPD1, SUMF1, SUOX, TCF4, TPP1
CH-14 Metabolic Liver Failure16ALDOB, ATP7B, FAH, GALE, GALK1, GALT, LIPA, MPI, NPC1, NPC2,  PHKA2, PHKB, PHKG2, PYGL, SERPINA1, SMPD1
CH-15 Metabolic Myopathy and Rhabdomyolysis47ACAD9, ACADL, ACADM, ACADVL, ADCK3, AGL, AHCY, ALDOA, AMPD1,  ANO5, CAV3, COQ2, CPT2, DYSF, ETFA, ETFB, ETFDH, FKRP, FKTN, GAA,  GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, MYH3, OPA1,  OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, POLG, POLG2, PYGM,  RRM2B, RYR1, SCN4A, SLC22A5, SLC25A20, SUCLA2, TK2, TYMP
CH-16 Mitochondrial DNA Depletion Syndrome22AGK, APTX, AUH, DGUOK, MFN2, MPV17, NDUFS1, OPA1, OPA3,  POLG, POLG2, RRM2B, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1,  TIMM8A, TK2, TMEM126A, TYMP, WFS1
CH-17 Peroxisomal Disorders26ABCD1, ABCD3, ACOX1, AGPS, AGXT, AMACR, DYM, EBP, GNPAT,  HSD17B4, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B,  PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PHYH, TRIM37
CH-18 Porphyria9ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS
Nephrology
The genetic mechanisms of kidney disease include single-gene disorders, chromosomal abnormalities and many polygenic disorders. Accurate genetic diagnosis helps to optimize treatment and identify other manifestations of the syndrome that need screening, as well as counsel patients’ families about health risks. Furthermore, patients with nephrotic syndrome (NS) can avoid steroids and other immunosuppressive drugs thanks to genetic testing. Genetic testing for pathogenic variants is used in prognoses such as post-transplant recurrence.
NEPHROLOGYNO. OF GENESGENES
THAN-01 Bardet-Biedl Syndrome21ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12,  C8ORF37, CEP290, LZTFL1, MKKS, MKS1, PNPLA6, SDCCAG8, TMEM67,  TRIM32, TTC8, WDPCP
THAN-02 Bartter Syndrome7BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3
THAN-03 Ciliopathy71ACVR2B, AHI1, ALMS1, ARL6, ARL13B, B9D1, B9D2, BBS1, BBS2, BBS4,  BBS5, BBS7, BBS9, BBS10, BBS12, C5ORF42, C8ORF37, CC2D2A, CEP41,  CEP164, CEP290, DHCR7, DYNC2H1, EVC, EVC2, FAM58A, GLI2, GLI3,  GLIS2, HYLS1, IFT43, IFT80, IFT122, IFT140, INPP5E, INVS, IQCB1, KIF7,  LZTFL1, MKKS, MKS1, NEK1, NEK8, NODAL, NPHP1, NPHP3, NPHP4,  OFD1, PKD1, PKD2, PKHD1, PMM2, PNPLA6, RPGRIP1L, SDCCAG8, TCTN1,  TCTN2, TCTN3,TMEM67, TMEM138, TMEM216, TMEM231, TMEM237,  TRIM32, TTC8, TTC21B, WDPCP, WDR19, WDR35, ZIC3, ZNF423
THAN-04 Cystic Kidney Disease31CEP164, CEP290, COL4A1, EYA1, GLIS2, HNF1B, INVS, IQCB1, JAG1,  LRP5, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD1,  PKD2, PKHD1, RPGRIP1L, SDCCAG8, SIX5, TMEM67, TSC1, TSC2, TTC21B,  UMOD, VHL, WDR19, ZNF423
THAN-05 Diabetes Insipidus3AQP2, AVP, AVPR2
THAN-06 Hemolytic Uremic Syndrome8ADAMTS13, C3, CD46, CFH, CFHR5, CFI, DGKE, THBD
THAN-07 Joubert Syndrome26AHI1, ARL13B, B9D1, B9D2, C5ORF42, CC2D2A, CEP41, CEP164, CEP290,  INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3,  TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TTC21B, ZNF423
THAN-08 Liddle Syndrome2SCNN1B, SCNN1G
THAN-09 Meckel Syndrome11B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2,  TMEM67, TMEM216, TMEM231
THAN-10 Nephrolithiasis32GXT, ALPL, APRT, ATP6V1B1, ATP6V0A4, CA2, CASR, CLCN5, CLDN16,  CLDN19, CYP24A1, FAM20A, GPHN, GRHPR, HNF4A, HOGA1, HPRT1,  KCNJ1, MOCS1*, OCRL, SLC2A9, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1,  SLC12A1, SLC22A12, SLC26A1, SLC34A1, SLC34A3, VDR, XDH
THAN-11 Nephronophthisis16ANKS6, CEP164, CEP290, GLIS2, INVS, IQCB1, NEK8, NPHP1, NPHP3,  NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, ZNF423
THAN-12 Nephrotic Syndrome38ACTN4, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, DGKE, FAN1, FN1,  INF2, ITGA3, LAMB2, LMX1B, MAFB, MYH9, MYO1E, NPHS1, NPHS2,  PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1, PAX2, LMNA,  KANK1, PTPRO, APOL1, CUBN, ITGB4, CD151, COQ6, PDSS2, ZMPSTE24,  PMM2, ALG1
THAN-13 Polycystic Kidney Disease)8JAG1, LRP5, NOTCH2, PKD1, PKD2, PKHD1, PRKCSH, SEC63
THAN-14 Primary Ciliary Dyskinesia21CCDC39, CCDC40, CCDC103, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAH5,  DNAH11, DNAI1, DNAI2, DNAL1, DYX1C1, HYDIN, INVS, LRRC6, NME8,  OFD1, RPGR, RSPH4A, RSPH9
THAN-15 Primary Hyperoxaluria3AGXT, GRHPR, HOGA1
THAN-16 Pseudohypoaldosteronism10CUL3, HSD11B2, KCNJ5, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G,  WNK1, WNK4
THAN-17 Renal Malformation20ACE, AGT, BMP4, EYA1, FAM58A, FANCB, FOXC2, FREM1, FREM2, GATA3,  HNF1B, PAX2, PBX1, REN, RET, ROBO2, SALL1, SIX1, SIX5, WT1
THAN-18 Renal Tubular Acidosis5ATP6V1B1, ATP6V0A4, CA2, SLC4A1, SLC4A4
Neurology
Genetic diagnosis is the most effective way to group neurological diseases, providing the information needed for personalized treatment and monitoring strategies. An accurate genetic diagnosis can terminate a long diagnostic process and assess the prognosis of the patient.
NEUROLOGYNO. OF GENESGENES
TK-01 Amyotrophic Lateral Sclerosis26ALS2, ANG, ATL1, BSCL2, CHMP2B, DCTN1, FIG4, FUS, GBE1, GRN,  HEXA, KIAA0196, KIF5A, OPTN, PRF1, REEP1, SLC52A3, SOD1, SPAST,  SPG11, SPG20, SQSTM1, TARDBP, UBQLN2, VAPB, VCP
TK-02 Ataxia128ABCB7, ABHD12, ACO2, ADCK3, AFG3L2, AHI1, ALDH5A1, ANO10,  APTX, ARL6, ARL13B, ATCAY, ATM, ATP1A3, BBS1, BBS2, BBS4, BBS5,  BBS7, BBS9, BBS10, BBS12, BEAN1, C5ORF42, CA8, CACNA1A, CACNB4,  CAMTA1, CASK, CC2D2A, CCDC88C, CEP41, CEP290, CLCN2, CLN5, CSTB,  CYP27A1, DNAJC19, DNMT1, ELOVL4, FA2H, FGF14, FLVCR1, FMR1, FXN,  GFAP, GOSR2, GRM1, GSS, HARS2, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1,  KCNC3, KCNJ10, KIF7, LAMA1, LMNB1, LRPPRC, MKKS, MKS1, MRE11A,  MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8,  NDUFV1, NOL3, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PAX6, PDYN, PEX7,  PHYH, PNKD, PNKP, PNPLA6, POLG, PPP2R2B, PRKCG, PRRT2, RPGRIP1L,  SACS, SERAC1, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SLC20A2, SLC52A2,  SPG7, SPTBN2, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TGM6,  TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TPP1, TRIM32,  TTBK2, TTC8, TTC19, TTPA, VLDLR, WDPCP, WDR81, WFS1, WWOX,  ZFYVE26, ZNF423, CP
TK-03 Autism Spectrum Disorders17BCL11A, CACNA1C, CC2D1A, CTNND2, DHCR7, FOXP1, GAMT, MECP2, NLGN3,  NLGN4X, NSD1, PTCHD1, PTEN, RPL10, SHANK3, TSC1, TSC2
TK-04 Cerebral Cavernous Malformation4CCM2, KRIT1, PDCD10, RASA1
TK-05 Charcot-Marie-Tooth Neuropathy80AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATP7A, BAG3, BSCL2, CCT5,  COX10, CTDP1, DCTN1, DHTKD1, DNM2, DNMT1, DST, DYNC1H1,  EGR2, FAM134B, FBLN5, FGD4, FIG4, FXN, GAN, GARS, GDAP1, GJB1,  GNE, HADHB, HARS, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, IKBKAP,  INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MED25,  MFN2, MPZ, MTMR2, MYOT, NDRG1, NEFL, NGF, NTRK1, PLEKHG5,  PMP22, POLG, PRPS1, PRX, RAB7A, REEP1, SACS, SBF2, SCN9A, SETX,  SH3TC2, SLC12A6, SMAD3, SPG11, SPTLC1, SPTLC2, SURF1, TFG,  TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZFYVE26
TK-06 Coenzyme qio Deficiency12ADCK3, ANO10, APTX, COQ2, COQ5, COQ6, COQ9, ETFA, ETFB, ETFDH,  PDSS1, PDSS2
TK-07 Collagen Type Vl-Related Disorders5COL4A1, COL4A2, COL6A1, COL6A2, COL6A3
TK-08 Comprehensive Epilepsy220ABAT, ABCD1, ADAR, ADSL, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2,  ALDH5A1, ALDH7A1, ALG13, AMACR, AMT, AP4B1, AP4E1, AP4M1, AP4S1,  ARG1, ARHGEF9, ARSA, ARX, ASAH1, ASNS, ASPA, ATP1A3, ATP13A2, ATRX,  BRAT1, BTD, CACNA1A, CACNA1H, CACNB4, CASK, CASR, CC2D1A, CDKL5,  CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6,  CLN8, CNTNAP2, COL4A1, COX6B1, COX15, CPT2, CSF1R, CSTB, CTC1, CTSD,  CUL4B, CYP27A1, D2HGDH, DARS2, DCX, DDC, DNAJC5, DNM1, DPYD,  DPYS, EARS2, ECM1, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A,  ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FARS2, FLNA, FOLR1, FOXG1,  FOXRED1, GABRA1, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP,  GFM1, GJC2, GLB1, GLDC, GLRB, GNE, GOSR2, GPHN, GRIA3, GRIK2, GRIN1,  GRIN2A, GRIN2B, GRN, HACE1, HEPACAM, HIBCH, HSD17B10, HTRA1, HTT,  IQSEC2, KCNA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIF1A, L2HGDH,  LGI1, LMNB1, LRPPRC, MBD5, MECP2, MED12, MEF2C, MFSD8, MLC1,  MOCS1, MTFMT, MTHFR, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7,  NDUFS8, NDUFV1, NFU1, NHLRC1, NOTCH3, NRXN1, NUBPL, OFD1, OPHN1,  PCDH19, PGK1, PHF6, PIGA, PIGN, PIGO, PIGV, PLCB1, PLP1, PNKP, PNPO,  POLG, POLR3A, POLR3B, PPT1, PRICKLE1, PRODH, PRRT2, PSAP, PTS, QDPR,  RAB39B, RELN, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2,  ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1,  SDHAF1, SERAC1, SERPINI1, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SLC19A3,  SLC25A15, SLC25A22, SLC46A1, SOX10, SPTAN1, ST3GAL3, ST3GAL5,  STXBP1, SUMF1, SUOX, SYN1, TAF1, TBC1D24, TBCE, TCF4, TPP1, TREX1,  TSC1, TSC2, TTC19, UBE2A, UBE3A, VPS13A, WWOX, ZEB2, ZFYVE26
TK-09 Comprehensive Muscular Dystrophy  /Myopathy53ACTA1, ANO5, ATP2A1, B3GALNT2, BAG3, CAPN3, CAV3, CFL2,  COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRYAB, DES, DMD,  DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, ISPD, ITGA7,  KBTBD13, LAMA2, LARGE, LDB3, LMNA, MEGF10, MTM1, MYH7,  MYOT, NEB, PNPLA2, POLG, POMT1, SGCA, SGCB, SGCD, SGCG, SYNE1,  TCAP, TMEM43, TNNT1, TPM2, TPM3, TRIM32, TTN, VMA21, VPS13A
TK-10 Congenital Myasthenic Syndromes17AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7,  DPAGT1, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A, STIM1
TK-11 Dementia17APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2,  SIGMAR1, SNCA, TARDBP, TREM2, UBE3A, UBQLN2, VCP
TK-12 Dystonia15ADCY5, ATP1A3, DCAF17, FA2H, GCH1, PDGFB, PDGFRB, PNKD,  PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A
TK-13 Emery-Dreifuss Muscular Dystrophy6DMD, EMD, FHL1, LMNA, TMEM43, TTN
TK-14 Epileptic Encephalopathy94ABAT, ADAR, ADSL, ALDH7A1, ALG13, AMT, ARHGEF9, ARX, ASNS, BRAT1,  CACNA1A, CASK, CDKL5, CHD2, CLCN4, CNTNAP2, COX6B1, CPT2, D2HGDH,  DCX, DNM1L, ETHE1, FARS2, FLNA, FOXG1, GABRA1, GABRB3, GABRG2,  GAMT, GLDC, GPHN, GRIN1, GRIN2A, GRIN2B, HEPACAM, HIBCH, HTT,  KCNQ2, KCNQ3, KCNT1, KIF1A, LRPPRC, MBD5, MECP2, MEF2C, MOCS1,  MTFMT, MTHFR, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1,  NRXN1, NUBPL, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, RMND1,  RNASEH2A, RNASEH2B, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A,  SCO1, SDHAF1, SERAC1, SLC2A1, SLC6A8, SLC9A6, SLC19A3, SLC25A22,  SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, TBC1D24, TBCE, TCF4, TREX1,  TSC1, TSC2, TTC19, UBE3A, WWOX, ZEB2
TK-15 Holoprosencephaly12CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3,  TGIF1, ZIC2
TK-16 Leukodystrophy and Leukoencephalopathy62ABCD1, ADAR, AIFM1, AIMP1, ALDH3A2, AP4B1, AP4E1, AP4M1, AP4S1,  ARSA, ASPA, CLCN2, COL4A1, COX6B1, COX15, CSF1R, CTC1, CYP27A1,  D2HGDH, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H,  FAM126A, FOLR1, FOXRED1, GALC, GFAP, GFM1, GJC2, HEPACAM, HIBCH,  HTRA1, L2HGDH, LMNB1, MLC1, MTFMT, NDUFAF5, NFU1, NOTCH3, NUBPL,  PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2,  SAMHD1, SCO1, SDHAF1, SERAC1, SOX10, SUMF1, TREX1, TTC19, ZFYVE26
TK-17 LGMD and Congenital Muscular  Dystrophy31ANO5, B3GALNT2, CAPN3, CAV3, COL4A1, COL4A2, CRYAB, DES, DMD, DNAJB6,  DYSF, FKRP, FKTN, ISPD, ITGA7, LAMA2, LMNA, MEGF10, MYH7, MYOT,  PNPLA2, POMT1, SGCA, SGCB, SGCD, SGCG, SYNE1, TCAP, TRIM32, TTN,  VMA21
TK-18 Lissencephaly15ACTB, ACTG1, ARX, ATP6V0A2, DCX, FKTN, ISPD, LAMB1, LARGE, PAFAH1B1,  POMT1, RELN, TUBA1A, VLDLR, YWHAE
TK-19 Macrocephaly/Overgrowth  Syndrome36AKT1, AKT3, ASPA, BRWD3, CDKN1C, CUL4B, DHCR24, DIS3L2, EIF2B5, EZH2, GFAP,  GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KIAA0196, KIF7, L1CAM, MED12,  MLC1, NFIX, NSD1, OFD1, PIGA, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RNF135,  SYN1, TSC1, TSC2, UPF3B
TK-20 Microcephaly and Pontocerebellar  Hypoplasia38AKT3, ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP63, CEP152, DYNC1H1, DYRK1A,  EFTUD2, EXOSC3, GFM1, KIF11, LIG4, MBD5, MCPH1, MRE11A, MYCN, NDE1,  NHEJ1, OPHN1, PAFAH1B1, PCNT, PHGDH, PNKP, POMT1, PQBP1, RARS2, RTTN,  SEPSECS, STIL, TSEN2, TSEN54, TUBB2B, TUBGCP6, VRK1, WDR62
TK-21 Migraine9ATP1A2, ATP1A3, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3,  SLC2A1
TK-22 Parkinson Disease19ATP1A3, ATP13A2, FBXO7, GCH1, LRRK2, MAPT, PARK2, PARK7, PDGFB,  PDGFRB, PINK1, PLA2G6, SLC6A3, SLC20A2, SNCA, SPR, TH, VPS13A,  VPS35
TK-23 Periodic Paralysis4CACNA1S, CLCN1, KCNJ2, SCN4A
TK-24 Polymicrogyria10AKT3, GPSM2, LAMC3, NDE1, NSDHL, SRPX2, TUBA1A, TUBA8, TUBB3,  WDR62
TK-25 Spastic Paraplegia46ABCD1, AFG3L2, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, ARG1, ATL1, BSCL2,  BTD, CTNNB1, CYP7B1, CYP27A1, DDHD1, FA2H, FARS2, FXN, GALC,  GBE1, GCH1, GJC2, HACE1, KDM5C, KIAA0196, KIF1A, KIF5A, L1CAM,  L2HGDH, NIPA1, PAH, PLP1, PNPLA6, REEP1, SACS, SETX, SLC16A2,  SLC25A15, SLC33A1, SPAST, SPG7, SPG11, SPG20, SPR, TH, ZFYVE26
TK-26 Spinal Muscular Atrophy24AARS, ASAH1, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, EXOSC3, GARS,  HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, PLEKHG5, REEP1, SCO2,  SLC5A7, TBCE, TRPV4, UBA1, VAPB, VRK1
TK-27 Tuberous Sclerosis2TSC1, TSC2
TK-28 X-linked Intellectual Disability94ABCD1, ACSL4, AFF2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, AT P7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CLCN4, CUL4B, DCX, DKC1,  DLG3, ELK1, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3,  HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2,  KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2,  MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X,  NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1,  PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10,  RPL10, RPS6KA3, SHROOM4, SLC6A8, SLC9A6, SLC16A2, SMC1A, SOX3,  SRPX2, SYN1, SYP, TAF1, TIMM8A, TSPAN7, UBE2A, UPF3B, ZCCHC12,  ZDHHC9, ZNF41, ZNF81, ZNF674, ZNF711
Ophthalmology
Retinal dystrophy is difficult to distinguish from similar disorders. Genetic diagnosis is the most effective way to group these diseases, providing personalized treatment and monitoring strategies as well as information on genetic pathways and prognosis. In particular, it gives patients the opportunity to be treated with advanced therapies.
OPHTHALMOLOGYNO. OF GENESGENES
MAT-01 Achromatopsia7CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP
MAT-02 Cataract60ABCB6, ADAMTS18, ADAMTSL4, AGK, ALDH18A1, BCOR, BFSP1,  BFSP2, CHMP4B, COL2A1, COL4A1, COL11A1, COL18A1, CRYAB,  CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD,  CTDP1, CYP27A1, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1,  FAM126A, FOXE3, FYCO1, FZD4, GALE, GALK1, GALT, GCNT2,  GJA3, GJA8, HSF4, MAF, MYH9, NDP, NF2, NHS, OCRL, OPA3, PAX6,  PITX3, RAB3GAP1, RECQL4, SIL1, SLC16A12, SLC33A1, TDRD7,  TFAP2A, TMEM70, VSX2, WFS1, WRN
MAT-03 Cone Rod Dystrophy35ABCA4, ADAM9, ADAMTS18, AIPL1, BEST1, C8ORF37, CABP4,  CACNA1F, CACNA2D4, CDHR1, CERKL, CLN3, CNGA3, CNGB3,  CNNM4, CRB1, CRX, CYP4V2, GNAT2, GUCA1A, GUCY2D, KCNV2,  MERTK, PDE6C, PDE6H, PITPNM3, PRPH2, RAX2, RDH5, RGS9,  RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A
MAT-04 Congenital stationary Night Blindness16CABP4, CACNA1F, CACNA2D4, CYP4V2, GNAT1, GPR179, GRM6,  NYX, PDE6B, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1
MAT-05 Corneal Dystrophy26CHRDL1, CHST6, COL5A1, COL8A2, COL17A1, CYP4V2, DCN, FOXE3,  GJA8, GSN, KERA, KRT3, KRT12, LCAT, LOXHD1, MAF, PIKFYVE,  PITX2, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1,  ZNF469
MAT-06 Ectopia Lentis12AASS, ADAMTS10, ADAMTS17, ADAMTSL4, BCOR, CBS, COL18A1,  FBN1, LTBP2, PORCN, SUOX, VSX2
MAT-07 Flecked Retina Disorders11ABCA4, CHM, CYP4V2, ELOVL4, PLA2G5, PRPH2, RDH5, RHO, RLBP1,  RS1, VPS13B
MAT-08 Leber Congenital Amaurosis24AIPL1, ALMS1, BBS4, CABP4, CEP290, CNGA3, CRB1, CRX,  GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A,  NMNAT1, RD3, RDH5, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
MAT-09 Macular Dystrophy28CIB2, CLRN1, DFNB31, HARS, BEST1, CDH3, CERKL, CNGB3, CRB1,  CRX, EFEMP1, ELOVL4, IMPG2, MFSD8, PRPH2, RAX2, RDH5,  RDH12, RLBP1, RP1L1, RPGR, RS1, PCDH15, PDZD7, PEX1, USH1C,  USH1G, USH2A
MAT-10 Microphthalmia, Anophthalmia and  Anterior Segment Dysgenesis45ABCB6, ADAMTS18, BCOR, BMP4, CHD7, COL4A1, COX7B, CYP1B1,  ERCC2, ERCC5, ERCC6, FOXC1, FOXE3, FOXL2, FRAS1, FREM1,  FREM2, GRIP1, HCCS, HESX1, HMX1, MFRP, MITF, NAA10, NDP,  OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, PRSS56, RAB3GAP1, RAX,  RBP4, SHH, SIX3, SIX6, SMOC1, SOX2, STRA6, TFAP2A, VPS13B,  VSX2, ZIC2
MAT-11 Neuro- Ophthalmology29ACO2, APTX, CHN1, CISD2, FRMD7, GPR143, HESX1, KIF21A, MFN2,  NDUFS1, OPA1, OPA3, OTX2, PAX6, PHOX2A, POLG, PRPS1,  ROBO3, RRM2B, SALL4, SETX, SLC25A4, SOX2, SPG7, TIMM8A,  TK2, TMEM126A, TUBB3, TYMP, WFS1
MAT-12 Optic Atrophy13ACO2, CISD2, MFN2, NDUFS1, OPA1, OPA3, POLG, PRPS1, SLC52A2,  SPG7, TIMM8A, TMEM126A, WFS1
MAT-13 Retinal Dystrophy213ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, AHI1, AIPL1, ALMS1,  ARL6, ARL13B, B9D1, B9D2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9,  BBS10, BBS12, BEST1, C2ORF71, C5ORF42, C8ORF37, CA4,  CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH3, CDH23, CDHR1,  CEP41, CEP164, CEP290, CERKL, CHM, CIB2, CISD2, CLN3, CLRN1,  CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL2A1, COL9A1,  COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CRB1, CRX,  CTC1, CTNNB1, CYP4V2, DFNB31, DHDDS, EFEMP1, ELOVL4,  EYS, FAM161A, FLVCR1, FRMD7, FZD4, GNAT1, GNAT2, GNPTG,  GPR179, GRM6, GUCA1A, GUCY2D, HGSNAT, HK1, HMX1, IDH3B,  IFT140, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13,  KCNV2, KIF7, KIF11, KLHL7, LCA5, LRAT, LRP2, LRP5, LZTFL1, MAK,  MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP,  MVK, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3,  NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PCDH15,  PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX3,  PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16,  PEX19, PEX26, PHYH, PITPNM3, PLA2G5, PNPLA6, PRCD, PRKCG,  PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, PRPS1, RAX2, RBP3, RBP4,  RD3, RDH5, RDH12, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1,  ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1, RS1,  SAG, SDCCAG8, SEMA4A, SLC24A1, SNRNP200, SPATA7, TCTN1,  TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMEM67, TMEM126A,  TMEM138, TMEM216, TMEM231, TMEM237, TOPORS, TREX1,  TRIM32, TRPM1, TSPAN12, TTC8, TTC21B, TTPA, TULP1, USH1C,  USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, ZNF423,  ZNF513, HARS
MAT-14 Retinal Pigmentosa67EYS, FAM161A, FLVCR1, GNPTG, GUCY2D, HGSNAT, HK1, IDH3B,  IFT140, IMPDH1, IMPG2, INPP5E, KLHL7, LCA5, LRAT, MAK,  MERTK, MFRP, MVK, NMNAT1, NR2E3, NRL, OAT, OFD1, PDE6A,  PDE6B, PDE6G, PEX1, PEX2, PEX7, PHYH, PITPNM3, PLA2G5,  PRCD, PRKCG, PRPF3, PRPF8, PRPF31, PRPH2, RBP3, RBP4, RDH5,  RDH12, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RPE65, RPGR,  RPGRIP1, RS1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8,  TTPA, TULP1, USH1C, USH2A, VPS13B, WDR19, ZNF513
MAT-15 Retinitis Pigmentosa Vitreoretinopathy19BEST1, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2,  COL18A1, CTC1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5*, NDP,  NR2E3, RS1, TSPAN12, VCAN
MAT-16 Glaucoma17CNTNAP2, COL4A1, CYP1B1, FOXC1, FOXE3, LMX1B, LTBP2, MAF,  MYOC, OPA1, OPA3, OPTN, PAX6, PITX2, TEK, TMEM126A, WDR36
Pulmonology
Genetic diagnosis is the most effective way to group hereditary respiratory diseases, providing the information needed for personalized treatment and monitoring strategies. Furthermore, it also assists in counseling at-risk families, facilitating preventive treatment and lifestyle recommendations, routine follow-ups by a physician as well as for family planning.
PULMONOLOGYNO. OF GENESGENES
HH-01 Bronchiectasis15CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11,  DNAI1, DNAI2, DNAL1, NME8, RSPH4A, RSPH9, SCNN1A, SCNN1B
HH-02 Central Hypoventilation and Apnea15CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, EDN3, GLRA1,  MECP2, PHOX2B, RAPSN, RET, SCN4A, SLC6A5, ZEB2
HH-03 Cystic Fibrosis1CFTR
HH-04 Interstitial Lung Disease21ABCA3, CSF2RA, CSF2RB, DKC1, HPS1, HPS4, ITGA3, NF1, NKX2-1,  SFTPA1, SFTPA2, SFTPB, SFTPC, SLC7A7, SLC34A2, SMPD1, STAT3,  TERT, TINF2, TSC1, TSC2
HH-05 Neonatal Respiratory Distress – Surfactant Dysfunction5ABCA3, FOXF1, NKX2-1, SFTPB, SFTPC
HH-06 Primary Ciliary Dyskinesia19CCDC39, CCDC40, CCDC103, CFTR, DNAAF1, DNAAF2, DNAAF3,  DNAH5, DNAH11, DNAI1, DNAI2, DNAL1, INVS, LRRC6, NME8,  OFD1, RPGR, RSPH4A, RSPH9
HH-07 Pulmonary Artery Hypertension  (PAH)9ACVRL1, BMPR2, CAV1, ENG, FOXF1, KCNA5, NFU1, SMAD4, TBX4
Malformations
Genetic diagnosis is the most effective way to group these diseases, providing the necessary information for personalized treatment and monitoring strategies. Detection of pathogenic mutations is important for adequate genetic counseling and family planning.
MALFORMATIONSNO. OF GENESGENES
DT-01 Comprehensive Short stature  Syndrome20ATR, BCS1L, CCDC8, CDC6, CDT1, CENPJ, CEP63, CEP152, CUL7, NOTCH2,  OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RTTN, SRCAP, TRIM37
DT-02 Amelogenesis Imperfecta and  Dentinogenesis Imperfecta12AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, KLK4,  LAMB3, LTBP3, MMP20, WDR72
DT-03 Arthrogryposis63ACTA1, AGRN, BIN1, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND,  CHRNE, CHRNG, CHST14, CHUK, COL6A2, COLQ, DHCR24, DOK7,  DPAGT1, EGR2, ERBB3, ERCC5, ERCC6, EXOSC3, FBN2, FHL1, FKBP10,  FKTN, FLVCR2, GBA, GBE1, GFPT1, GLE1, KAT6B, LMNA, MPZ, MTM1,  MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, PLOD2, PMM2, RAPSN,  RARS2, RIPK4, SCO2, SMN2, TGFB3, TK2, TNNI2, TNNT1, TNNT3, TPM2,  TPM3, TRPV4, TSEN2, TSEN54, UBA1, VIPAS39, VPS33B, VRK1
DT-04 Brachydactyly/syndactyly19BMP2, BMPR1B, CHSY1, DHCR7, ESCO2, FAM58A, GDF5, GNAS, HOXA13,  HOXD13, IHH, MYCN, NOG, PDE4D, PTHLH, RECQL4, ROR2, SOX9,  TP63
DT-05 Chondrodysplasia Punctata9AGPS, ARSE, EBP, GNPAT, LBR, NSDHL, PEX7, PEX14, PEX19
DT-06 Cleft Lip/Palate and Associated  Syndromes14COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, FOXE1,  IRF6, KDM6A, KMT2D, MSX1, SATB2, TBX22, TP63
DT-07 Comprehensive Skeletal Dysplasias  and Disorders235CLCN5, CLCN7, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2,  COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP,  CREBBP, CRTAP, CTSK, CUL7, CYP27B1, DDR2, DHCR7, DHCR24, DHODH,  DLL3, DLX3, DLX5 ,DMP1, DOCK6, DYM, DYNC2H1, EBP, EFNB1, EFTUD2,  EIF2AK3, ENAM, ENPP1, EP300, ERCC4, ESCO2, EVC, EVC2, EXT1, EXT2,  EZH2, FAM20A, FAM20C, FAM58A, FAM83H, FANCA, FANCB, FANCC,  FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FBN2,  FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB,  GALNT3, GDF5, GH1, GHR, GHRHR, GLI2, GLI3, GNAS, GNPAT, GPC6,  HDAC8, HESX1, HOXA13, HOXD13, HRAS, HSPG2, IDS*, IFITM5, IFT43,  IFT80, IFT122, IFT140, IGF1, IGF1R, IHH, IMPAD1, INSR, KAT6B, KIF7,  KIF22, KRAS, LBR, LEMD3, LHX3, LHX4, LIFR, LMNA, LMX1B, LRP4, LRP5,  LTBP2, LTBP3, MAFB, MAP2K1, MAP2K2, MATN3, MBTPS2, MESP2,  MGP, MMP2, MMP9, MMP13, MSX2, MYCN, NF1, NFIX, NIPBL, NKX3- 2, NOG, NOTCH1, NOTCH2, NPR2, NRAS, NSD1, NSDHL, OBSL1, ORC1,  ORC4, ORC6, OSTM1, OTX2, PALB2, PAPSS2, PCNT, PDE4D, PEX7,  PEX14, PEX19, PHEX, PIK3CA, PITX2, PLOD2, POC1A, POLR1C, POLR1D,  POR, POU1F1, PPIB, PRKAR1A, PROP1, PTH1R, PTHLH, PTPN11, PYCR1,  RAD21, RAD51C, RAF1, RBBP8, RBPJ, RECQL4, ROR2, RTTN, RUNX2,  SALL1, SALL4, SERPINF1, SERPINH1, SETBP1, SF3B4, SH3BP2, SH3PXD2B,  SHOC2, SHOX, SKI, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13,  SLCO2A1, SLX4, SMAD3, SMAD4, SMARCAL1, SMC1A, SMC3, SOS1,  SOST, SOX2, SOX3, SOX9, SP7, SRCAP, STAT5B, TBX3, TBX4, TBX5, TBX15,  TBX19, TCIRG1, TCOF1, TCTN3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2,  TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRIM37, TRIP11, TRPS1, TRPV4,  TTC21B, TWIST1, TYROBP, VDR, VIPAS39, WDR19, WDR35, WISP3,  WNT5A, WNT7A
DT-08 Cornelia de Lange Syndrome5HDAC8, NIPBL, RAD21, SMC1A, SMC3
DT-09 Craniosynostosis32ALPL, ALX3, ALX4, BMP4, EDNRB, EFNB1, ESCO2, FGFR1, FGFR2, FGFR3,  FLNB, FREM1, GDF5, GLI3, IFT122, IFT140, IL11RA, MASP1, MSX2, NOG,  PAX3, POR, RAB23, RECQL4, SKI, SOX10, TGFBR1, TGFBR2, TWIST1,  TWIST2, WDR19, WDR35
DT-10 Exostosis and Related Disorders3EXT1, EXT2, PTPN11
DT-11 Facial Dysostosis and Related  Disorders26ALPL, ALX3, ALX4, CREBBP, DHODH, DLL3, EFNB1, EFTUD2, EHMT1,  EP300, EVC, EVC2, HDAC8, HSPG2, LIFR, MYCN, NIPBL, POLR1C,  POLR1D, SF3B4, SMC1A, SMC3, SRCAP, TCOF1, TWIST1, UBE2A
DT-12 Gastrointestinal Atresia12CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1, MYCN,  PTF1A, RFX6, SOX2
DT-13 Heterotaxy and Situs Inversus21ACVR2B, ANKS6, CCDC39, CCDC40, CCDC103, DNAAF1, DNAAF2,  DNAAF3, DNAH5, DNAH11, DNAI1, DNAI2, DNAL1, DYX1C1, FOXH1,  GDF1, INVS, LEFTY2, LRRC6, NODAL, ZIC3
DT-14 Limb Malformations18ACVR2B, CCDC39, CCDC40, CCDC103, DNAAF1, DNAAF2,  DNAAF3, DNAH5, DNAH11, DNAI1, DNAI2, DNAL1, FOXH1, GDF1,  INVS, LRRC6, NODAL, ZIC3
DT-15 Lymphatic Malformations and  Related Disorders9CCBE1, FLT4, FOXC2, GATA2, GJC2, KIF11, PIK3CA, RASA1, SOX18
DT-16 Macrocephaly/Overgrowth Syndrome36AKT1, AKT3, ASPA, BRWD3, CDKN1C, CUL4B, DHCR24, DIS3L2,  EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM,  HUWE1, KIAA0196, KIF7, L1CAM, MED12, MLC1, NFIX, NSD1,  OFD1, PIGA, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RNF135,  SYN1, TSC1, TSC2, UPF3B
DT-17 Meier-Gorlin Syndrome5CDC6, CDT1, ORC1, ORC4, ORC6
DT-18 Microcephaly and Pontocerebellar Hypoplasia38AKT3, ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP63, CEP152, DYNC1H1,  DYRK1A, EFTUD2, EXOSC3, GFM1, KIF11, LIG4, MBD5, MCPH1,  MRE11A, MYCN, NDE1, NHEJ1, OPHN1, PAFAH1B1, PCNT, PHGDH,  PNKP, POMT1, PQBP1, RARS2, RTTN, SEPSECS, STIL, TSEN2, TSEN54,  TUBB2B, TUBGCP6, VRK1, WDR62

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