Diagnostics & Bioanalysis
- Genetic Analysis (NGS)
- Hematological Malignancies
- Solid Tumors
- Neurological Disorders
- Heart Diseases
- Noninvasive prenatal testing
- Genetic Disorders
- Genetics of Infertility
- Pharmacogenetics
- Detection
- Subpopulations Identification
- Kinship Relationship Identification
- Genetic Nutrition
- Various analyses
Genetic Analysis (NGS) 1
OUTLINE
Clinical Exome Panel
COMMENT
>4,500 genes of the human genome, which are associated with genetic diseases / (sensitivity > 99%, accuracy > 99%, repeatability >99%) with average coverage >50x in >96% of targets and unsurpassed uniformity in region coverage ( >98%)Autism Spectrum Disorders / Cardiomyopathies, Ciliopathies, Congenital Glycosylation Disorders, Congenital Myasthenias, Epilepsy Syndromes, Eye Disorders, Glycogen Storage Disorders, Hearing Loss, Hereditary Cancer, Hereditary Relapsing Fever Syndromes, Inflammatory Diseases of the intestineLysosomal syndromes, Diabetes of the Juvenile (MODY), Multiple dysplasias of the pineal gland, Neuromuscular disorders, Noonan syndrome and related disorders, Peroxidase biogenesis disorders, Unexplained infertility, Zellweger syndrome spectrum, Skeletal malformations, Sex-linked mental retardation, X-linked intellectual disability
Genetic Analysis (NGS) 2
OUTLINE
Whole Exome Solution (WES)
COMMENT
>21,000 genes of the human genome (Mental retardation/developmental difficulties, Cardiomyopathies, Epilepsy, Muscular dystrophies, Ataxias, Neuropathies, Deafness, Retinopathy, Bone and connective tissue disorders, Undiagnosed metabolic syndromes, Short stature, Complex dysmorphic features, Immune deficiency, etc.)
Hematological Malignacies 1
OUTLINE
Ampliseq for Illumina Haema-NGS Sequencing Panel
METHODOLOGY
NGS
COMMENT
ASXL1, CALR, CXCR4, FBXW7, IKZF2, JAK2, NPM1, RHOA, SRSF2, U2AF1, ATM, CBL, DNMT3A, FLT3, IKZF3, MPL, NRAS, RUNX1, STAG2, ZRSR2, BRAF, CEBPA, ETV6, IDH1, IKZF1, MYD88, PAX5, SETBP1, TET2, BTK, CSF3R, EZH2, IDH2, JAK1, NOTCH1, PLCG2, SF3B1, TP53
Hematological Malignacies 2
OUTLINE
NGS panel Myeloid Solution
METHODOLOGY
NGS
COMMENT
Acute Myeloid Leukemia (AML), Myelodysplastic syndromes (MDS), Myeloproliferative neoplasms (MPNs), Juvenile myelomonocytic leukemia (JMML) , Acute lymphocytic leukemia (ALL)
Hematological Malignacies 3
OUTLINE
BCR-ABL genetic test (p210 & p190)
SUBCATEGORY
Chronic Myelogenous Leukemia (CML)
METHODOLOGY
Real-Time PCR
Hematological Malignacies 4
OUTLINE
Quantification of BCR-ABL t(9;22)(q34;q11)
SUBCATEGORY
Chronic Myelogenous Leukemia (CML)
METHODOLOGY
Real-Time PCR
Hematological Malignacies 5
OUTLINE
ABL Mutations
SUBCATEGORY
Chronic Myelogenous Leukemia (CML)
METHODOLOGY
Sanger Sequencing
Hematological Malignacies 6
OUTLINE
JAK2 V617F
SUBCATEGORY
Myeloproliferative Neoplasms except CML
METHODOLOGY
ASPCR
Hematological Malignacies 7
OUTLINE
JAK2 exon 12
SUBCATEGORY
Myeloproliferative Neoplasms except CML
METHODOLOGY
Sanger Sequencing
Hematological Malignacies 8
OUTLINE
CALR exon 9
SUBCATEGORY
Myeloproliferative Neoplasms except CML
METHODOLOGY
Sanger Sequencing
Hematological Malignacies 9
OUTLINE
MPL W515L/K
SUBCATEGORY
Myeloproliferative Neoplasms except CML
METHODOLOGY
Real-Time PCR
Hematological Malignacies 10
OUTLINE
BCR-ABL genetic test (p210 & p190)
SUBCATEGORY
Myeloproliferative Neoplasms except CML
METHODOLOGY
Nested PCR
Hematological Malignacies 11
OUTLINE
ΚΙΤ D816V
SUBCATEGORY
Myeloproliferative Neoplasms except CML
METHODOLOGY
Sanger Sequencing
Hematological Malignacies 12
OUTLINE
Quantification of AML/ETO t(8;21)(q22;q22)
SUBCATEGORY
Acute Myeloid Leukemia
METHODOLOGY
Real-Time PCR
Hematological Malignacies 13
OUTLINE
PML/RARΑ Detection (bcr1 ή bcr2 ή bcr3)
SUBCATEGORY
Acute Myeloid Leukemia
METHODOLOGY
Real-Time PCR
Hematological Malignacies 14
OUTLINE
Quantification of PML/RARΑ (bcr1, bcr2, bcr3)
SUBCATEGORY
Acute Myeloid Leukemia
METHODOLOGY
Real-Time PCR
Hematological Malignacies 15
OUTLINE
Quantification of PML/RARΑ bcr1, t(15;17)(q22;q21)
SUBCATEGORY
Acute Myeloid Leukemia
METHODOLOGY
Real-Time PCR
Hematological Malignacies 16
OUTLINE
Quantification of PML/RARΑ bcr2, t(15;17)(q22;q21)
SUBCATEGORY
Acute Myeloid Leukemia
METHODOLOGY
Real-Time PCR
Hematological Malignacies 17
OUTLINE
Quantification of PML/RARΑ bcr3, t(15;17)(q22;q21)
SUBCATEGORY
Acute Myeloid Leukemia
METHODOLOGY
Real-Time PCR
Hematological Malignacies 18
OUTLINE
NPM1 analysis
SUBCATEGORY
Acute Myeloid Leukemia
METHODOLOGY
Real-Time PCR
Hematological Malignacies 19
OUTLINE
FLT3 (ITD, D835)
SUBCATEGORY
Acute Myeloid Leukemia
METHODOLOGY
PCR-RFLP
Hematological Malignacies 20
OUTLINE
Quantification of TEL/AML1 t(12;21)(p13;q22)
SUBCATEGORY
Acute lymphoblastic leukemia (ALL)
METHODOLOGY
Real-Time PCR
Hematological Malignacies 21
OUTLINE
BCR-ABL genetic test (p210 & p190)
SUBCATEGORY
Acute lymphoblastic leukemia (ALL)
METHODOLOGY
Nested PCR
Hematological Malignacies 22
OUTLINE
ABL Mutations
SUBCATEGORY
Acute lymphoblastic leukemia (ALL)
METHODOLOGY
Sanger Sequencing
Hematological Malignacies 23
OUTLINE
Determination of the somatic hypermutation status of the IGHV gene
SUBCATEGORY
Chronic Lymphocytic Leukemia (CLL)
METHODOLOGY
Sanger Sequencing, NGS
Hematological Malignacies 24
OUTLINE
Detection of TP53 gene mutations
SUBCATEGORY
Chronic Lymphocytic Leukemia (CLL)
METHODOLOGY
NGS
Hematological Malignacies 25
OUTLINE
BRAF mutation V600E/K
SUBCATEGORY
Hairy cell leukemia
METHODOLOGY
Real-Time PCR
Hematological Malignacies 26
OUTLINE
MYD88 L265P
SUBCATEGORY
WALDENSTRÖM/IgM-MGUS
METHODOLOGY
AS PCR - Sanger Sequencing
Hematological Malignacies 27
OUTLINE
Tcell receptor gene Clonality
SUBCATEGORY
B and T cell clonality
METHODOLOGY
Multiplex PCR
Hematological Malignacies 28
OUTLINE
Analysis of the T cell receptor beta chain gene repertoire
SUBCATEGORY
B and T cell clonality
METHODOLOGY
NGS
Hematological Malignacies 29
OUTLINE
Determination of the somatic hypermutation status of the IGHV gene
SUBCATEGORY
B and T cell clonality
METHODOLOGY
NGS
Hematological Malignacies 30
OUTLINE
IGH Clonality
SUBCATEGORY
B and T cell clonality
METHODOLOGY
Multiplex PCR
Solid Tumors 1
OUTLINE
Ampliseq for Illumina Solid Tumors-NGS Sequencing Panel
METHODOLOGY
NGS
Solid Tumors 2
OUTLINE
EGFR: (ex18), (ex19), (ex20), (ex21)
SUBCATEGORY
Lung Cancer
METHODOLOGY
Real-Time PCR (CE-IVD)
Solid Tumors 3
OUTLINE
EGFR: (ex18), (ex19), (ex20), (ex21) liquit biopsy
SUBCATEGORY
Lung Cancer
METHODOLOGY
Real-Time PCR (CE-IVD)
Solid Tumors 4
OUTLINE
BRAF V600E/K, c.1799T>A
SUBCATEGORY
Lung Cancer
METHODOLOGY
Real-Time PCR
Solid Tumors 5
OUTLINE
KRAS/NRAS (exons 2,3,4) and BRAF (exons 1-18)
SUBCATEGORY
Lung Cancer
METHODOLOGY
NGS
Solid Tumors 6
OUTLINE
LUNG panel
SUBCATEGORY
Lung Cancer
METHODOLOGY
NGS
COMMENT
mTOR, NF1, PTEN, RIT1, TP53, TSC1, TSC2, AKT1, ALK , BRAF, DDR2, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR3, HRAS, IDH1, IDH2, KIT, KRAS, MAP2K1, MET, NOTCH1, NRAS, PDGFRA, PIK3CA, STK11. Fusion genes: ALK, FGFR1, FGFR2, NTRK1, NTRK3, RET, ROS1, NRG1
Solid Tumors 7
OUTLINE
BRAF V600E/K, c.1799T>A
SUBCATEGORY
Colorectal cancer
METHODOLOGY
Real-Time PCR
Solid Tumors 8
OUTLINE
KRAS/NRAS (exons 2,3,4) and BRAF (exons 1-18)
SUBCATEGORY
Colorectal cancer
METHODOLOGY
NGS
Solid Tumors 9
OUTLINE
UGT1A1
SUBCATEGORY
Colorectal cancer
METHODOLOGY
Fragment Analysis
Solid Tumors 10
OUTLINE
Colon cancer panel
SUBCATEGORY
Colorectal cancer
METHODOLOGY
NGS
COMMENT
ΑPC, BMPR1A, CDH1, CHECK2, EPCAK, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1,POLE, PTEN, SMAD4, STK11, TP53
Solid Tumors 11
OUTLINE
BRAF V600E/K, c.1799T>A
SUBCATEGORY
Hereditary Nonpolyposis Colorectal Cancer_Lynch Syndrome
METHODOLOGY
Real-Time PCR
Solid Tumors 12
OUTLINE
Lynch Syndrome panel
SUBCATEGORY
Hereditary Nonpolyposis Colorectal Cancer_Lynch Syndrome
METHODOLOGY
NGS
COMMENT
MLH1, MSH2, MSH6, PSM2, EPCAM
Solid Tumors 13
OUTLINE
Familial adenomatous polyposis panel
SUBCATEGORY
Familial adenomatous polyposis (FAP)
METHODOLOGY
NGS
COMMENT
ΑPC, MUTYH, ΒΜPR1A, POLE, POLD1, SMAD4, STK11
Solid Tumors 14
OUTLINE
Gastric Cancer panel
SUBCATEGORY
Gastric Cancer
METHODOLOGY
NGS
COMMENT
APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6,PMS2, SDHB, SDHC, SDHD,SMAD4, STK11, TP53
Solid Tumors 15
OUTLINE
c-KIT, PDGFRA (all exons)
SUBCATEGORY
Gastrointestinal stromal tumors (GIST)
METHODOLOGY
NGS
Solid Tumors 16
OUTLINE
Familial pancreatitis panel
SUBCATEGORY
Familial pancreatitis
METHODOLOGY
NGS
COMMENT
CFTR, CPA1, CTRC, PRSS1, SPINK1
Solid Tumors 17
OUTLINE
Pancreatic cancer panel
SUBCATEGORY
Pancreatic cancer
METHODOLOGY
NGS
COMMENT
APC, ATM, BMPR1A, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MEN1, MLH1, MSH2, MSH6,PALB2, SMAD4, STK11, TP53, PMS2
Solid Tumors 18
OUTLINE
BRCA1&2 Inherited mutations (germline)
SUBCATEGORY
Breast and ovarian cancer
METHODOLOGY
NGS
Solid Tumors 19
OUTLINE
BRCA1&2 – Somatic mutations (sporadic)
SUBCATEGORY
Breast and ovarian cancer
METHODOLOGY
NGS
Solid Tumors 20
OUTLINE
Breast and ovarian cancer panel
SUBCATEGORY
Breast and ovarian cancer
METHODOLOGY
NGS
COMMENT
ΑΤΜ, ΒΑRD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53
Solid Tumors 21
OUTLINE
PCA 3
SUBCATEGORY
Prostate cancer
METHODOLOGY
RT-PCR
Solid Tumors 22
OUTLINE
Prostate cancer panel
SUBCATEGORY
Prostate cancer
METHODOLOGY
NGS
COMMENT
ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53, PTEN
Solid Tumors 23
OUTLINE
Kidney Cancer_Renal Cancer panel
SUBCATEGORY
Kidney cancer_Renal Cancer
METHODOLOGY
NGS
COMMENT
ΒΑP1, EPCAM, MLH1, MSH2, MSH6, PMS2, TP53, PTEN, VHL, SDHB, SDHC, SDHD, SDHAF2
Solid Tumors 24
OUTLINE
BRAF V600E/K, c.1799T>A
SUBCATEGORY
Thyroid Cancer
METHODOLOGY
Real-Time PCR
Solid Tumors 25
OUTLINE
RET (ΜΕΝ2)
SUBCATEGORY
Thyroid Cancer
METHODOLOGY
NGS
Solid Tumors 26
OUTLINE
ΜΕΝ1
SUBCATEGORY
Parathyroid cancer
METHODOLOGY
NGS
Solid Tumors 27
OUTLINE
BRAF V600E/K, c.1799T>A
SUBCATEGORY
Malignant Melanoma
METHODOLOGY
Real-Time PCR
Solid Tumors 28
OUTLINE
BRAF (all exons)
SUBCATEGORY
Malignant Melanoma
METHODOLOGY
NGS
Solid Tumors 29
OUTLINE
NRAS (exons 2,3,4 )
SUBCATEGORY
Malignant Melanoma
METHODOLOGY
NGS
Solid Tumors 30
OUTLINE
c-KIT/PDGFRA (all exons )
SUBCATEGORY
Malignant Melanoma
METHODOLOGY
NGS
Solid Tumors 31
OUTLINE
Malignant Melanoma panel
SUBCATEGORY
Malignant Melanoma
METHODOLOGY
NGS
COMMENT
ΒΑP1, BRCA2, CDK4, CDKN2A, PTEN, RB1, TP53
Solid Tumors 32
OUTLINE
Pheochromocytomas/Paragangliomas panel
SUBCATEGORY
Pheochromocytomas (PHEO) and paragangliomas (PGL)
METHODOLOGY
NGS
COMMENT
RET, SDHAF2, SDHB, SDHC, SDHD, VHL
Neurological Disorders 1
OUTLINE
Amyotrophic lateral sclerosis_ALS (27 genes)
METHODOLOGY
NGS
COMMENT
ALS2, ANG, ATL1, BSCLD10:D432, C9ORF72, CHMP2B, DCTN1, FIG4, FUS, GBE1, GRN, HEXA, KIF5A, OPTN, PRF1, REEP1, SETX, SLC52A2, SLC52A3, SOD1, SPAST, SPG11, SQSTM1, TARDBP*, UBQLN2, VAPB, VCP
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 2
OUTLINE
Ataxia (134 genes)
METHODOLOGY
NGS
COMMENT
ABCB7, ABHD12, ACO2, AFG3L2*, AHI1, ALDH5A1, ANO10, APTX, ARL6, ARL13B, ATCAY, ATM, ATP1A3, ATP8A2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BEAN1, C5ORF42, CA8, CACNA1A, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP41, CEP290*, CLCN2, CLN5, CP*, CSTB, CYP2U1, CYP27A1, DNMT1, ELOVL4, FA2H, FGF14, FLVCR1, FMR1, FXN, GFAP, GOSR2*, GRID2, GRM1, GSS, HARS2, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKKS, MKS1, MME, MRE11, 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, RUBCN, 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
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 3
OUTLINE
Autism spectrum disorder (21 genes)
METHODOLOGY
NGS
COMMENT
BCL11A, CACNA1C*, CC2D1A, CTNND2, DHCR7, EN2, FOXP1, GAMT, KMT5B, MECP2, NLGN3, NLGN4X, NSD1, POGZ, PTCHD1, PTEN*, RPL10, SHANK3, TMLHE*, TRIP12, TSC1, TSC2
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 4
OUTLINE
Complete Epilepsy control (236 genes)
METHODOLOGY
NGS
COMMENT
ABAT, 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*, DNM1L, DOCK7, DPYD, DPYS, EARS2, ECM1, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FARS2, FH, FLNA, FOLR1, FOXG1, FOXRED1, GABRA1, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP, GFM1, GJC2, GLB1, GLDC, GLRB, GNB1, GNE, GOSR2*, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, HACE1, HCN1, HEPACAM, HIBCH, HNRNPU, HSD17B10, HTRA1, HTT, IQSEC2, KCNA1, KCNQ2, KCNQ3, KCNT1, KCTD7*, KDM5C, KIF1A, L2HGDH, LGI1, LMNB1, LRPPRC, MAGI2, MARS2, MBD5, MECP2, MED12, MEF2C, MFSD8, MLC1, MOCS1*, MTFMT, MTHFR, MTOR, 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, RARS, RELN, RMND1*, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SLC2A1, SLC6A1, SLC6A8*, SLC9A6, SLC19A3, SLC25A1, SLC25A15*, SLC25A22, SLC46A1, SMS, SNAP25, SOX10, SPTAN1, ST3GAL5, STXBP1, SUMF1, SUOX, SYN1, TAF1, TBC1D24, TBCE, TBL1XR1*, TCF4, TPP1, TREX1, TSC1, TSC2, TTC19, UBE2A, UBE3A*, UNC80, VPS13A, WDR45, WWOX, YY1, ZEB2*, ZFYVE26
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 5
OUTLINE
Brain arteriovenous malformation (AVM)
METHODOLOGY
NGS
COMMENT
AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATP7A, BAG3, BSCL2, CCT5, COX10*, CTDP1, DCTN1, DHTKD1, DNM2, DNMT1, DST, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, FXN*, GAN, GARS, GDAP1, GJB1, GNE, HADHB, HRAS*, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MME, MPZ, MTMR2, MYOT, NDRG1, NEFH*, NEFL, NGF, NTRK1, PLEKHG5, PMP22, POLG, PRPS1*, PRX, RAB7A, REEP1, SACS, SBF2, SCN9A, SCN11A, SETX, SH3TC2, SLC12A6, SMAD3, SPG11, SPTLC1*, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZFYVE26
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 6
OUTLINE
Charcot-Marie-Tooth (83 genes)
METHODOLOGY
NGS
COMMENT
AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATP7A, BAG3, BSCL2, CCT5, COX10*, CTDP1, DCTN1, DHTKD1, DNM2, DNMT1, DST, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, FXN*, GAN, GARS, GDAP1, GJB1, GNE, HADHB, HRAS*, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MME, MPZ, MTMR2, MYOT, NDRG1, NEFH*, NEFL, NGF, NTRK1, PLEKHG5, PMP22, POLG, PRPS1*, PRX, RAB7A, REEP1, SACS, SBF2, SCN9A, SCN11A, SETX, SH3TC2, SLC12A6, SMAD3, SPG11, SPTLC1*, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZFYVE26
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 7
OUTLINE
Coenzyme Q10 Deficiency (13 genes)
METHODOLOGY
NGS
COMMENT
ANO10, APTX, COQ2, COQ4, COQ5, COQ6, COQ7, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 8
OUTLINE
Collagen VI disorder (5 genes)
METHODOLOGY
NGS
COMMENT
COL4A1, COL4A2, COL6A1, COL6A2, COL6A3
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 9
OUTLINE
Muscular dystrophies (MDs)/Myopathy panel (58 genes)
METHODOLOGY
NGS
COMMENT
ACTA1, 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, MME, MTM1, MYH7, MYOT, NEB*, PABPN1, PNPLA2, POLG, POMGNT2, POMT1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, TCAP, TMEM43, TNNT1, TPM2, TPM3*, TRIM32, TTN*, VMA21, VPS13A
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 10
OUTLINE
Congenital Myasthenic Syndromes (17 genes)
METHODOLOGY
NGS
COMMENT
AGRN, CHAT, CHRNA1, CHRNA2, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A, STIM1
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 11
OUTLINE
Dementia (17 genes)
METHODOLOGY
NGS
COMMENT
APOE, APP, CHMP2B, CSF1R, FUS, GRN, PRNP, PSEN1, PSEN2, SIGMAR1, SNCA, SORL1, TARDBP*, TREM2, UBE3A*, UBQLN2, VCP
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 12
OUTLINE
Dystonia (17 genes)
METHODOLOGY
NGS
COMMENT
ADCY5, ANO3, ATP1A3, DCAF17, FA2H, GCH1, PDGFB, PDGFRB, PNKD, PANK2, PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 13
OUTLINE
Emery–Dreifuss muscular dystrophy (6 genes)
METHODOLOGY
NGS
COMMENT
DMD, EMD, FHL1*, LMNA, TMEM43, TTN*
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 14
OUTLINE
Epileptic Encephalopathy (101 genes)
METHODOLOGY
NGS
COMMENT
ABAT, ADAR, ADSL, ALDH7A1, ALG13, AMT, ARHGEF9, ARX, ASNS*, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CLCN4, CNTNAP2, COX6B1, CPT2, DCX, DNM1*, DNM1L, DOCK7, ETHE1, FARS2, FLNA, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GLDC, GPHN, GRIN1, GRIN2A, GRIN2B, HCN1, HEPACAM, HIBCH, HNRNPU, 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, SLC25A1, SLC25A22, SNAP25, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, TBC1D24, TBCE, TCF4, TREX1, TSC1, TSC2, TTC19, UBE3A*, UNC80, WDR45, WWOX, ZEB2*
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 15
OUTLINE
Holoprosencephaly (12 genes)
METHODOLOGY
NGS
COMMENT
CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 16
OUTLINE
Idiopathic Generalised Epilepsies IGEs (31 genes)
METHODOLOGY
NGS
COMMENT
ALDH7A1, AMACR, CACNA1H, CACNB4, CASR, CHRNA2, CHRNA4, CHRNB2, CLCN2, EFHC1, GABRA1, GABRB3, GABRG2, GRIN2A, KCNA1, KCNQ2, KCNQ3, KCNT1, LGI1, MTOR, POLG, PRRT2, RELN, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A1, TBC1D24
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 17
OUTLINE
Leukodystrophies and genetic leukoencephalopathies (64 genes)
METHODOLOGY
NGS
COMMENT
ABCD1*, 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, MARS2, MLC1, MTFMT, NDUFAF5, NFU1, NOTCH3, NUBPL, PLP1, POLR3A, POLR3B, PSAP, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCO1, SDHAF1, SERAC1, SOX10, SUMF1, TREX1, TTC19, ZFYVE26
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 18
OUTLINE
Limb-girdle muscular dystrophy (LGMD) and Congenital muscular dystrophies (34 genes)
METHODOLOGY
NGS
COMMENT
ANO5, B3GALNT2, CAPN3, CAV3, COL4A1, COL4A2, CRYAB, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, ISPD, ITGA7, LAMA2, LARGE, LMNA, MEGF10, MYH7, MYOT, PNPLA2, POMGNT2, POMT1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, TCAP, TRIM32, TTN*
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 19
OUTLINE
Lissencephaly (16 genes)
METHODOLOGY
NGS
COMMENT
ACTB*, ACTG1*, ARX, ATP6V0A2, DCX, FKTN, ISPD, LAMB1, LARGE, PAFAH1B1, POMGNT2, POMT1, RELN, TUBB2B*, VLDLR, YWHAE
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 20
OUTLINE
Macrocephaly /Overgrowth syndromes (39 genes)
METHODOLOGY
NGS
COMMENT
AKT1, AKT3, ASPA, BRWD3, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2*, DNMT3A, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KIF7, L1CAM, MED12, MLC1, MPDZ, NFIX, NSD1, OFD1, PIGA*, PIK3CA*, PIK3R2, PTCH1, PTEN*, RAB39B, RNF135, SETD2, SYN1, TSC1, TSC2, UPF3B
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 21
OUTLINE
Metabolic Epilepsy (39 genes)
METHODOLOGY
NGS
COMMENT
ABAT, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ARG1, BTD, D2HGDH, DNM1L, DPYD, DPYS, ETFA, ETFB, ETFDH, ETHE1, FH, GAMT, GCDH, GCH1, GLDC, GNE, GPHN, HIBCH, L2HGDH, MOCS1*, MTHFR, PGK1, PNPO, POLG, PRODH*, PTS, QDPR, SERAC1, SLC2A1, SLC25A1, SLC25A15*, SLC46A1, SUOX
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 23
OUTLINE
Migraine (10 genes)
METHODOLOGY
NGS
COMMENT
ATP1A2, ATP1A3, CACNA1A, KCNK18, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 24
OUTLINE
NCL and Progressive myoclonus epilepsies (PME) (26 genes)
METHODOLOGY
NGS
COMMENT
AFG3L2*, ASAH1, ATP13A2, BRAT1, CLN3, CLN5, CLN6, CLN8, CSTB, CSTF, DNAJC5, EPM2A, FARS2, FOLR1, GOSR2*, GRN, KCTD7*, MFSD8, NHLRC1, POLG, PPT1*, PRICKLE1, SCARB2, SERPINI1, TBC1D24, TPP1
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 25
OUTLINE
Myofibrillar myopathies (MFMs) (8 genes)
METHODOLOGY
NGS
COMMENT
ACTA1, CFL2, KBTBD13, MTM1, NEB*, TNNT1, TPM2, TPM3*
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 26
OUTLINE
Neuronal migration disorders (NMDs) (52 genes)
METHODOLOGY
NGS
COMMENT
ACTB*, ACTG1*, ADGRG1, AKT3, ARFGEF2, ARX, ATP6V0A2, B3GALNT2, COL4A1, COL4A2, DCX, DYNC1H1, EMX2, FH, FKTN, FLNA, FLVCR2, GPSM2, ISPD, KIF1BP, KIF7, L1CAM, LAMA2, LAMB1, LAMC3, LARGE, MED12, MEF2C, MPDZ, NDE1, NSDHL, OCLN*, PAFAH1B1, PHGDH, PIK3CA*, PIK3R2, POMGNT2, POMT1, RAB3GAP1, RAB3GAP2, RAB18, RELN, RTTN, SEPSECS, SRPX2, TMEM5, TUBA8, TUBB2B*, TUBB3*, VLDLR, WDR62, YWHAE
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 27
OUTLINE
Parkinson's disease (19 genes)
METHODOLOGY
NGS
COMMENT
ATP1A3, ATP13A2, DNAJC6, FBXO7, GCH1, LRRK2, PRKN, PARK7, PDGFB, PDGFRB, PINK1, PLA2G6, SLC6A3, SLC20A2, SNCA, SPR, TH, VPS13A, VPS35
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 28
OUTLINE
Periodic paralyses (PPs) (4 genes)
METHODOLOGY
NGS
COMMENT
CACNA1S, CLCN1, KCNJ2, SCN4A
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 29
OUTLINE
Polymicrogyria (PMG) (15 genes)
METHODOLOGY
NGS
COMMENT
ADGRG1, AKT3, FH, GPSM2, KIF1BP, LAMC3, NDE1, NSDHL, OCLN*, RAB18, SRPX2, TUBA8, TUBB2B*, TUBB3*, WDR62
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 30
OUTLINE
Septo-optic dysplasia (SOD) (4 genes)
METHODOLOGY
NGS
COMMENT
HESX1, OTX2, PAX6, SOX2*
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 31
OUTLINE
Hereditary spastic paraplegia (HSP) (50 genes)
METHODOLOGY
NGS
COMMENT
ABCD1*, AFG3L2*, ALS2, AP4B1, AP4E1, AP4M1, AP4S1*, ARG1, ATL1, B4GALNT1, BSCL2, BTD, CAPN1, CTNNB1, CYP2U1, CYP7B1, CYP27A1, DDHD1, DDHD2, FA2H, FARS2, FXN*, GALC, GBE1, GCH1, GJC2, HACE1, KDM5C, KIF1A, KIF5A, L1CAM, L2HGDH, MARS2, NIPA1, PAH, PLP1, PNPLA6, RARS, REEP1, SACS, SETX, SLC16A2, SLC25A15*, SLC33A1*, SPAST, SPG7, SPG11, SPR, TH, ZFYVE26
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 32
OUTLINE
Spinal muscular atrophy (SMA) (26 genes)
METHODOLOGY
NGS
COMMENT
AARS, ASAH1, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, EXOSC3, GARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L*, PLEKHG5, REEP1, SCO2, SLC5A7, TBCE, TRPV4, UBA1, VAPB, VRK1 (+SMN1 & SMN2 με MLPA)
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 33
OUTLINE
Tuberous sclerosis complex (TSC) (2 genes)
METHODOLOGY
NGS
COMMENT
TSC1, TSC2
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Neurological Disorders 34
OUTLINE
X linked mental retardation (97 genes)
METHODOLOGY
NGS
COMMENT
ABCD1*, ACSL4, AFF2, AP1S2*, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CLCN4, CUL4B, DCX, DDX3X, DKC1, DLG3, ELK1*, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK*, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS*, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1*, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5*, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1*, PTCHD1, RAB39B, RBM10, RPL10, RPS6KA3, SHROOM4, SLC6A8*, SLC9A6, SLC16A2, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, TIMM8A*, TSPAN7, UBE2A, UPF3B, USP9X, ZCCHC12, ZDHHC9, ZNF41, ZNF81, ZNF674, ZNF711
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 1
OUTLINE
Extended Cardio Solution
METHODOLOGY
NGS
COMMENT
AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CASQ2, CAV3, CTNNA3, DPP6, DSC2, EMD, FGF12, FHL1, GJC1, GPD1L, JUP, KCNA5, KCNAB2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, MOG1, NKX2-5, NOS1AP, NUP155, PKP2, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SLC8A1, SLMAP, SNTA1, TBX5, TGFB3, TMEM43, TRDN, TRPM4, TRPM7, ATP2A2, CACNA1D, CALM3, CALR3, DES, DSG2, DSP, GJA5, HCN4, HEY2, NPPA, PDLIM3, PLN, SCN5A, STRN, TTN, ABCC9, ACTA1, ACTC1, ACTN2, ALPK3, ANKRD1, APOA1, BAG3, CHRM2, CRAYB, CSRP3, CTF1, DMD, DOLK, DTNA, EYA4, FHL2, FKTN, FLNC, GAA, GATA4, GATA6, GATAD1, GJA1, GLA, HFE, JPH2, LAMA4, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, SCO2, SGCD, SURF1, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 2
OUTLINE
Aortic Abnormalities (40 genes)
METHODOLOGY
NGS
COMMENT
ABCC6*, ABL1, ACTA2, ADAMTS2, ADAMTS10, ADAMTS17, ADAMTSL4, ALDH18A1, BGN, CBS, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, GATA5, MYH11, MYLK, NOTCH1, PLOD1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 3
OUTLINE
Arrhythmias (51 genes)
METHODOLOGY
NGS
COMMENT
ABCC9, AKAP9, ANK2, BAG3, CACNA1C*, CACNB2, CALM1*, CALM3, CASQ2, CAV3, CTNNA3, DBH, DES, DSC2, DSG2, DSP, FLNC*, GATA6, HADHA, HCN4, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, MYH6, MYH7, NKX2-5, NOS1AP, NUP155, PKP2*,RYR2, SALL4, SCN1B, SCN3B, SCN5A, SCN10A, TBX5, TGFB3, TMEM43, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4,TTN*
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 4
OUTLINE
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
METHODOLOGY
NGS
COMMENT
CTNNA3, DES, DSC2, DSG2, DSP, FLNC*, JUP, LDB3, LMNA, MYH7, PKP2*, RYR2, TGFB3, TMEM43, TTN*
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 5
OUTLINE
Atrial fibrillation (19 genes)
METHODOLOGY
NGS
COMMENT
CACNB2, GATA6, HCN4, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, NUP155, RYR2, SCN1B, SCN3B, SCN5A, SCN10A, TBX5
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 6
OUTLINE
Brugada syndrome (9 genes)
METHODOLOGY
NGS
COMMENT
CACNA1C*, CACNB2, CAV3, HCN4, KCNH2, SCN1B, SCN3B, SCN5A, TRPM4
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 7
OUTLINE
Cardiomyopathy (131 genes)
METHODOLOGY
NGS
COMMENT
AARS2, ABCC6*, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK*, AGL, ALMS1*, ANO5, APOA1, BAG3, BRAF*, CALR3, CAPN3, CASQ2, CBL, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, DYSF, ELAC2, EMD, ETFA, ETFB, ETFDH, FHL1*, FKRP, FKTN, FLNC*, FOXRED1, FXN*, GAA, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GUSB*, HADHA, HAND1, HCN4, HFE, HRAS, ISPD, JPH2, JUP, KRAS*, LAMA2, LAMP2, LARGE, LDB3, LMNA, MAP2K1, MAP2K2, MLYCD, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN, NEXN, NF1*, NRAS, PCCA, PCCB, PKP2*, PLEC, PNPLA2, PRDM16, PRKAG2*, PTPN11, RAF1, RBM20, RMND1*, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA*, SELENON, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A4, SLC25A20, SMCHD1, SOS1, SPRED1, TAB2, TAZ, TBX5, TBX20*, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM32, TSFM, TTN*, TTR, VCL, VCP, VPS13A, XK
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 8
OUTLINE
Catecholaminergic polymorphic ventricular tachycardia (CPVT) (7 genes)
METHODOLOGY
NGS
COMMENT
ANK2, CALM1*, CALM3, CASQ2, KCNJ2, RYR2, TRDN
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 9
OUTLINE
Cardiovascular examination (156 genes)
METHODOLOGY
NGS
COMMENT
AARS2, ABCC6*, ABCC9, ACADVL, ACTA1, ACTA2, ACTN2, AGK*, AGL, AKAP9, ALMS1*, ANK2, ANO5, APOA1, BAG3, BRAF*, CACNA1C*, CACNB2, CALM1*, CALM3, CALR3, CAPN3, CASQ2, CAV3, CBL, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, DYSF, ELAC2, EMD, ENPP1, ETFA, ETFB, ETFDH, FHL1*, FKRP, FKTN, FLNC*, FOXRED1, FXN*, GAA, GATA5, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GUSB*, HADHA, HAND1, HCN4, HFE, HRAS, ISPD, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, KRAS*, LAMA2, LAMP2, LARGE, LDB3, LMNA, MAP2K1, MAP2K2, MLYCD, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN, NEXN, NF1*, NKX2-5, NOS1AP, NRAS, NUP155, PCCA, PCCB, PKP2*, PLEC, PNPLA2, POMT1, PRDM16, PRKAG2*, PTPN11, RAF1, RBM20, RMND1*, RYR2, SALL4, SCN1B, SCN3B, SCN5A, SCN10A, SCNN1B, SCNN1G, SCO2, SDHA*, SELENON, , SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A4, SLC25A20, SMCHD1, SOS1, SPRED1, TAB2, TAZ, TBX5, TBX20*, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM32, TRPM4, TSFM, TTN*, TTR, VCL, VCP, VPS13A, XK
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 10
OUTLINE
Congenital heart defect (CHD) (52 genes)
METHODOLOGY
NGS
COMMENT
ABL1, ACTA2, ACTB*, ACTC1, ACTG1*, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, B3GAT3*, BCOR, BMPR2, CBL, CHD7, CRELD1, CTC1, DHCR7, EFTUD2, ELN, ENG, FLNA, GATA4, GATA5, GATA6, GDF1, GJA5, GPC3, HAND1, HOXA1, HRAS, JAG1, LEFTY2, MYCN, NF1*, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2*, NR2F2, NSD1, PITX2, RBM10, SALL4, TAB2, TBX1, TBX5, TBX20, TFAP2B, TLL1, ZFPM2, ZIC3
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 11
OUTLINE
Dilated Cardiomyopathy (52 genes)
METHODOLOGY
NGS
COMMENT
ABCC6*, ABCC9, ACTA1, ACTN2, ALMS1*, APOA1, BAG3, DES, DMD, DOLK, DSC2, DSG2, DSP, DYSF, EMD, ETFA, ETFB, ETFDH, FKTN, FLNC*, GATA6, GBE1, GLB1, HAND1, HCN4, JPH2, JUP, LAMP2, LMNA, MLYCD, MYBPC3, MYH6, MYH7, PCCA, PCCB, PKP2*, PRDM16, RAF1, RBM20, RMND1*, SCN5A, TAB2, TAZ, TBX5, TBX20*, TCAP, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN*, TTR, VCL, VPS13A
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 12
OUTLINE
Ehlers-Danlos syndrome (31 genes)
METHODOLOGY
NGS
COMMENT
ABCC6*, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, BGN, CBS, CHST14, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, PLOD1, PYCR1, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, ZNF469
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 13
OUTLINE
Hereditary hemorrhagic telangiectasias (HHT) (4 genes)
METHODOLOGY
NGS
COMMENT
ACVRL1, ENG, RASA1, SMAD4
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 14
OUTLINE
Heterotaxy syndrome and Situs Inversus (21 genes)
METHODOLOGY
NGS
COMMENT
ACVR2B, ANKS6, CCDC39, CCDC40, CCDC103, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH5, DNAH11*, DNAI1, DNAI2, DNAL1, FOXH1, GDF1, INVS, LEFTY2, LRRC6, NODAL, ZIC3
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 15
OUTLINE
Basic lipid panel (4 genes)
METHODOLOGY
NGS
COMMENT
APOB, LDLR, LDLRAP1, PCSK9
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 16
OUTLINE
Hyperlipidemia (17 genes)
METHODOLOGY
NGS
COMMENT
ABCA1, ABCG5, ABCG8, ALMS1*, APOA1, APOA5, APOB, APOC2, APOE, CREB3L3, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 17
OUTLINE
Hypertrophic cardiomyopathy (HCM) (38 genes)
METHODOLOGY
NGS
COMMENT
ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, APOA1, BAG3, BRAF*, CBL, COX15, CSRP3, ELAC2, FHL1*, FLNC*, FXN*, GAA, GLA, HRAS, JPH2, LAMP2, MYBPC3, MYH7, MYL2, MYL3, MYPN, NEXN, PRKAG2*, RAF1, SLC25A4, SOS1, TNNC1, TNNI3, TNNT2, TPM1, TTR
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 18
OUTLINE
Non-ST-elevation myocardial infarction (NSTEMI) (31 genes)
METHODOLOGY
NGS
COMMENT
ABCC9, ACTC1 BAG3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FLNC*, HCN4, JPH2, JUP, LAMP2, LMNA, MYBPC3, MYH6, MYH7, PKP2*, RAF1, RBM20, RYR2, SCN5A, TAZ, TCAP, TNNT2, TPM1, TTN*, VCL
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 19
OUTLINE
Liddle syndrome (2 genes)
METHODOLOGY
NGS
COMMENT
SCNN1B, SCNN1G
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 20
OUTLINE
Long QT syndrome (LQTS) (14 genes)
METHODOLOGY
NGS
COMMENT
AKAP9, ANK2, CACNA1C*, CALM1*, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN5A
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 21
OUTLINE
Marfan syndrome (29 genes)
METHODOLOGY
NGS
COMMENT
ABL1, ADAMTS10, ADAMTS17, ADAMTSL4, BGN, CBS, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2, EFEMP2, FBN1, FBN2, MED12, PLOD1, SKI, SLC2A10, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, VCAN
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 22
OUTLINE
Noonan syndrome (17 genes)
METHODOLOGY
NGS
COMMENT
ACTB*, ACTG1*, BRAF*, CBL, HRAS, KRAS*, MAP2K1, MAP2K2, NF1*, NRAS, NSUN2, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 23
OUTLINE
Pulmonary arterial hypertension (PAH) (11 genes)
METHODOLOGY
NGS
COMMENT
ACVRL1, BMPR2, CAV1, ENG, FOXF1, KCNA5, KCNK3, NFU1, RASA1, SMAD4, TBX4
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Heart Diseases 24
OUTLINE
Short QT syndrome (5 genes)
METHODOLOGY
NGS
COMMENT
CACNA1C*, CACNB2, KCNH2, KCNJ2, KCNQ1
*Reduced sensitivity due to the presence of a pseudogene, partial or total duplication and other peculiarities of the DNA sequence.
Noninvasive prenatal testing 1
OUTLINE
VERACITY BASIC
METHODOLOGY
NGS
COMMENT
Targeted Sequencing Methodology - Trisomies 21, 18 and 13 and optional gender reporting )
Noninvasive prenatal testing 2
OUTLINE
VERACITY PLUS
METHODOLOGY
NGS
COMMENT
Trisomies 21, 18 and 13 and sex chromosome aneuploidies
Noninvasive prenatal testing 3
OUTLINE
VERACITY FULL
METHODOLOGY
NGS
COMMENT
Trisomies 21, 18 and 13, sex chromosome aneuploidies and selected microdeletion syndromes: DiGeorge/VCF, 1p36 deletion, Smith-Magenis, Wolf Hirschhorn
Noninvasive prenatal testing 4
OUTLINE
VERAGENE
METHODOLOGY
NGS
COMMENT
VERACITY FULL and test for 50 monogenic diseases
Genetic Disorders 1
OUTLINE
F508del mutation detection of CFTR gene
SUBCATEGORY
Cystic fibrosis (CF)
METHODOLOGY
ASPCR
Genetic Disorders 2
OUTLINE
Cystic fibrosis mutations (76.5% – 85%)
SUBCATEGORY
Cystic fibrosis (CF)
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 3
OUTLINE
Cystic fibrosis mutations (whole CFTR gene)
SUBCATEGORY
Cystic fibrosis (CF)
METHODOLOGY
NGS (CE-IVD)
Genetic Disorders 4
OUTLINE
Molecular diagnosis of all types of α- and β-thalassemia, and specific forms of δβ-thalassemia
SUBCATEGORY
Thalassemia syndromes
METHODOLOGY
NGS (CE-IVD)
Genetic Disorders 5
OUTLINE
Molecular analysis of haemoglobinopathies (α-chain)
SUBCATEGORY
Thalassemia syndromes
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 6
OUTLINE
Molecular analysis of haemoglobinopathies (β-chain)
SUBCATEGORY
Thalassemia syndromes
METHODOLOGY
PCR- reverse hybridization (CE-IVD)
Genetic Disorders 7
OUTLINE
Factor V Leiden mutation
SUBCATEGORY
Thrombophilia
METHODOLOGY
Real-Time PCR (CE-IVD)
Genetic Disorders 8
OUTLINE
H1299R Variant in Factor V
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 9
OUTLINE
G20210A Prothrombin Gene Mutation
SUBCATEGORY
Thrombophilia
METHODOLOGY
Real-Time PCR (CE-IVD)
Genetic Disorders 10
OUTLINE
Factor XIII Val34Leu mutation
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 11
OUTLINE
Homocysteine mutation (MTHFR: C677T)
SUBCATEGORY
Thrombophilia
METHODOLOGY
Real-Time PCR (CE-IVD)
Genetic Disorders 12
OUTLINE
Homocysteine mutation (MTHFR: Α1298C)
SUBCATEGORY
Thrombophilia
METHODOLOGY
Real-Time PCR (CE-IVD)
Genetic Disorders 13
OUTLINE
Plasminogen Activator Inhibitor-1 mutation (PAI-1: -675, 4G/5G)
SUBCATEGORY
Thrombophilia
METHODOLOGY
Real-Time PCR (CE-IVD)
Genetic Disorders 14
OUTLINE
Plasminogen Activator Inhibitor-1 mutation (PAI-1: -844, G>A)
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-RFLPs
Genetic Disorders 15
OUTLINE
GPla Polymorphisms
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-RFLPs (CE-IVD)
Genetic Disorders 16
OUTLINE
Platelet GP IIIA polymorphism HPA-1
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-RFLPs
Genetic Disorders 17
OUTLINE
Apolipoprotein B mutation (R3500Q)
SUBCATEGORY
Thrombophilia
METHODOLOGY
Real-Time PCR (CE-IVD)
Genetic Disorders 18
OUTLINE
Angiotensin enzyme mutation (ACE: I/D)
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 19
OUTLINE
Endothelial nitrogen oxide polymorphism 786 T>C (eNOS)
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 20
OUTLINE
Lymphotoxin A polymorphism (LTA)
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 21
OUTLINE
Fibrinogen B mutation (-455G>A)
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 22
OUTLINE
Thrombophilia-1: factor II (G20210A), factor V (LEIDEN G1691A), MTHFR (C677T)
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-RFLPs
Genetic Disorders 23
OUTLINE
Thrombophilia-2: factor II (G20210A), factor V (LEIDEN G1691A), MTHFR (C677T), GPIa
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 24
OUTLINE
Thrombophilia-3: (CVD-T, 8 mutations, risk of thrombosis): factor II (G20210A), factor V (G1691A, R2 H1299A), MTHFR (C677T, A1298C), factor XII (V34L), PAI-1, EPCR (A1,A3)
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 25
OUTLINE
Thrombophilia-4: (CVD-A, 8 mutations, Atherosclerosis): ACE, ApoB, ApoE, GPIIIa, Fibrinogen-β, eNOS, (G894S, -786 T>C) LTA
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 26
OUTLINE
Thrombophilia-5: (CVD, 13 mutations, cardinal): Factor II (G20210A), Factor V (G1691A, R2 H1299A), MTHFR (C677T, A1298C), Factor XIII (V34L), PAI-1, ApoB, ApoE, ACE, GPIa, GPIIIa, Fibrinogen-β
SUBCATEGORY
Thrombophilia
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 27
OUTLINE
35delG mutation in GJB2 gene (Gap junction protein beta 2)(Nonsyndromic deafness)
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
PCR/RFLP
Genetic Disorders 28
OUTLINE
Familial Mediterranean Fever (12 common mutations in MEFV gene)
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 29
OUTLINE
Congenital adrenal hyperplasia (CAH) (common mutations in CYP21A2 gene)
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetic Disorders 30
OUTLINE
Hemochromatosis, gene HFE
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
PCR-Hybridization (CE-IVD)
COMMENT
HFE gene (12 mutations: V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, Q283P), TFR2 gene (4 mutations: E60X, M172K, Y250X, AVAQ594-597del),FPN1 gene (2 muttaions: Ν144Η, V162del)
Genetic Disorders 31
OUTLINE
Dyslipidemia - metabolic syndrome
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
NGS
COMMENT
LDLR, APOB-100, PCSK9, LPA, ANGPTL3, APOB, MTTP, SAR1B, ABCG5, AGTR1, HSD11B2, ENAC, NOS2, APOE, END1, LPL, APOA5, APOC2, GPIHBP1, LMF1, CETP, SCARB1, PLTP, NPC1, NPC2, SMPD1, FTO, MC4R, AVP
Genetic Disorders 32
OUTLINE
Molecular Investigation of Celiac Disease (HLA-DQ2/DQ8)
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
Real-Time PCR
Genetic Disorders 33
OUTLINE
HLΑ-Β27 detection
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
PCR-RFLPs
Genetic Disorders 34
OUTLINE
HLA-B5701 typing
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
Real-Time PCR
Genetic Disorders 35
OUTLINE
PNPLA3 polymorphism detection (I148M)
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
PCR-RFLPs
Genetic Disorders 36
OUTLINE
Clinical Exome Panel
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
NGS
COMMENT
>21,000 genes of the human genome (Mental retardation/developmental difficulties, Cardiomyopathies, Epilepsy, Muscular dystrophies, Ataxia, Neuropathies, Deafness, Retinopathy, Bone and connective tissue disorders, Undiagnosed metabolic syndromes, Short stature, Complex dysmorphic characteristics, Immune deficiency, etc.)
Genetic Disorders 37
OUTLINE
Whole Exome Solution (WES)
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
NGS
COMMENT
>21,000 genes of the human genome (Mental retardation/developmental difficulties, Cardiomyopathies, Epilepsy, Muscular dystrophies, Ataxia, Neuropathies, Deafness, Retinopathy, Bone and connective tissue disorders, Undiagnosed metabolic syndromes, Short stature, Complex dysmorphic characteristics, Immune deficiency, etc.)
Genetic Disorders 38
OUTLINE
Whole Genome Solution (WES)
SUBCATEGORY
VARIOUS DISEASES
METHODOLOGY
NGS
Genetics of Infertility 1
OUTLINE
Y-Chromosome Microdeletions (YCMs)
METHODOLOGY
Multiplex PCR
Genetics of Infertility 2
OUTLINE
Detection of F508del mutation in cystic fibrosis transmembrane (CFTR)
METHODOLOGY
ASPCR
Genetics of Infertility 3
OUTLINE
Cystic fibrosis mutations (76.5% – 85%)
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetics of Infertility 4
OUTLINE
Cystic Fibrosis Mutations (entire CFTR gene)
METHODOLOGY
NGS (CE-IVD)
Genetics of Infertility 5
OUTLINE
Bacteria associated with Infertility (Chlamydia, Mycoplasma, Ureaplasma)
METHODOLOGY
PCR
Genetics of Infertility 6
OUTLINE
Chlamydia trachomatis Detection
METHODOLOGY
PCR
Genetics of Infertility 7
OUTLINE
Mycoplasma hominis Detection
METHODOLOGY
PCR
Genetics of Infertility 8
OUTLINE
Ureaplasma urealyticum Detection
METHODOLOGY
PCR
Genetics of Infertility 9
OUTLINE
Molecular investigation of thrombophilia (13 mutations)
METHODOLOGY
PCR-Hybridization (CE-IVD)
Genetics of Infertility 10
OUTLINE
Molecular Detection of Fragile X (FRAX-A/B)
METHODOLOGY
Real-Time PCR-HRM
Pharmacogenetics 1
OUTLINE
Thiopurine S-methyltransferase (TPMT)
METHODOLOGY
PCR-Hybridization (CE-IVD)
Pharmacogenetics 2
OUTLINE
5-Fluoro-uracil Resistance (5FU/DPD)
METHODOLOGY
PCR-Hybridization (CE-IVD)
Pharmacogenetics 3
OUTLINE
Arsenic Trioxide response, PML/RARA detection (bcr1, bcr2, bcr3)
METHODOLOGY
Real-Time PCR
Pharmacogenetics 4
OUTLINE
Arsenic Trioxide response, PML/RARΑ bcr1 or brc2 or brc3 quantitative, t(15;17)(q22;q21)
METHODOLOGY
Real-Time PCR
Pharmacogenetics 5
OUTLINE
Capecitabine (DPD) response
METHODOLOGY
Real-Time PCR
Pharmacogenetics 6
OUTLINE
Cetuximab KRAS/NRAS response (exons 2,3,4 & 2,3,4), EGFR (exons 18-21) and BRAF ex1-18)
METHODOLOGY
NGS
Pharmacogenetics 7
OUTLINE
Cobimetinib (BRAF V600E) response
METHODOLOGY
Real-Time PCR
Pharmacogenetics 8
OUTLINE
Dabrafenib (BRAF V600E) response
METHODOLOGY
Real-Time PCR
Pharmacogenetics 9
OUTLINE
Dasatinib (BCR-ABL) response
METHODOLOGY
Real-Time PCR
Pharmacogenetics 10
OUTLINE
Erlotinib/Gefitinib (EGFR) response
METHODOLOGY
Real-Time PCR (CE-IVD)
Pharmacogenetics 11
OUTLINE
Imatinib mesylate c-KIT/PDGFRA response (all the mutations)
METHODOLOGY
NGS
Pharmacogenetics 12
OUTLINE
Irinotecan response (UGT1A1)
METHODOLOGY
Fragment Analysis
Pharmacogenetics 13
OUTLINE
Nilotinib response (BCR-ABL)
METHODOLOGY
Real-Time PCR
Pharmacogenetics 14
OUTLINE
Nilotinib response (UGT1A1)
METHODOLOGY
Fragment Analysis
Pharmacogenetics 15
OUTLINE
Olaparib response (BRCA1&2), inherited mutations
METHODOLOGY
NGS
Pharmacogenetics 16
OUTLINE
Olaparib response (BRCA1&2), somatic mutations
METHODOLOGY
NGS
Pharmacogenetics 17
OUTLINE
Trametinib response (BRAF V600E/K)
METHODOLOGY
Real-Time PCR
Pharmacogenetics 18
OUTLINE
Abacavir (ABC) hypersensitivity reaction (HSR) (HIV therapy) (HLA-B5701)
METHODOLOGY
Real-Time PCR
Pharmacogenetics 19
OUTLINE
Hypochondroplasia (HCH) – mutations in fibroblast growth factor receptor 3 (FGFR3)
METHODOLOGY
PCR-RFLPs
Pharmacogenetics 20
OUTLINE
Hypochondroplasia (HCH) – mutations in fibroblast growth factor receptor 3 (FGFR3)
METHODOLOGY
PCR-RFLPs
Detection 1
OUTLINE
Adenovirus
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 2
OUTLINE
Arbovirus West Nile
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 3
OUTLINE
Enterovirus (Coxsackie, Polio, Echo)
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 4
OUTLINE
HBV
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 5
OUTLINE
HCV
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 6
OUTLINE
HCV -c genotype
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 7
OUTLINE
HDV
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 8
OUTLINE
HEV
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 9
OUTLINE
HHV-1/2 (HSV) Herpes Simplex Virus
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 10
OUTLINE
HHV-3 (VZV)
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 11
OUTLINE
HHV-4 (EBV) / Epstein-Barr
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 12
OUTLINE
HHV-5 (CMV)/ Cytomegalovirus
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 13
OUTLINE
HHV-6
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 14
OUTLINE
HHV-7
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 15
OUTLINE
HHV-8
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 16
OUTLINE
HIV-1
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 17
OUTLINE
HIV-2
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 18
OUTLINE
HTLV-1
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 19
OUTLINE
HTLV-2
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 20
OUTLINE
Influenza A,Β
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 21
OUTLINE
Influenza A subtype H1N1
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 22
OUTLINE
Parvovirus (Parvo B-19)
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 23
OUTLINE
Polyoma JC/BK Virus
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 24
OUTLINE
Rabies Virus
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 25
OUTLINE
Respiratory Syncytial Virus (RSV)
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 26
OUTLINE
Rubella Virus
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 27
OUTLINE
ZIΚV Virus
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 28
OUTLINE
TaqPath COVID-19, FLU A/B, RSV combo kit
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 29
OUTLINE
Molecular detection of SARS-CoV-2
SUBCATEGORY
Detection of viral infections
METHODOLOGY
Real-Time PCR
Detection 30
OUTLINE
Bacterial (Detection of Bacterial Contamination)
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 31
OUTLINE
Bartonella henselae
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 32
OUTLINE
Bordetella pertussis/parapertussis
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 33
OUTLINE
Borrelia burgdorferi
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 34
OUTLINE
Brucella spp
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 35
OUTLINE
Chlamydiaceae (Chlamydia family)
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 36
OUTLINE
Chlamydia trachomatis
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 37
OUTLINE
Chlamydophila pneumoniae
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 38
OUTLINE
Coxiella burnetti
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 39
OUTLINE
Legionella pneumophila
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 40
OUTLINE
Listeria monocytogenes
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 41
OUTLINE
Mycobacterium tuberculosis
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
(CE-IVD)
Detection 42
OUTLINE
Mycoplasma hominis
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 43
OUTLINE
Mycoplasma genitalium
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 44
OUTLINE
Ureaplasma parvum
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 45
OUTLINE
Mycoplasma pneumoniae
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 46
OUTLINE
Neisseria gonorrhoeae
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 47
OUTLINE
Neisseria meningitidis
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 48
OUTLINE
Rickettsia spp.
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 49
OUTLINE
Streptococcus pneumoniae
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 50
OUTLINE
Ureaplasma urealyticum
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 51
OUTLINE
Treponema pallidum
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 52
OUTLINE
Leptospira spp
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 53
OUTLINE
Plasmodium falciparum, Plasmodium Ovale, Plasmodium Vivax, Plasmodium malariae
SUBCATEGORY
Detection of bacterial infections
METHODOLOGY
Real-Time PCR
Detection 54
OUTLINE
Acanthamoeba
SUBCATEGORY
Detection of fungi and Parasites
METHODOLOGY
Real-Time PCR
Detection 55
OUTLINE
Fungi
SUBCATEGORY
Detection of fungi and Parasites
METHODOLOGY
Real-Time PCR
Detection 56
OUTLINE
Aspergillus spp
SUBCATEGORY
Detection of fungi and Parasites
METHODOLOGY
Real-Time PCR
Detection 57
OUTLINE
Candida albicans
SUBCATEGORY
Detection of fungi and Parasites
METHODOLOGY
Real-Time PCR
Detection 58
OUTLINE
Leishmania spp
SUBCATEGORY
Detection of fungi and Parasites
METHODOLOGY
Real-Time PCR
Detection 59
OUTLINE
Pneumocystis carinii jiroveci
SUBCATEGORY
Detection of fungi and Parasites
METHODOLOGY
Real-Time PCR
Detection 60
OUTLINE
Toxoplasma gondii
SUBCATEGORY
Detection of fungi and Parasites
METHODOLOGY
Real-Time PCR
(CE-IVD)
Subpopulations Identification 1
OUTLINE
T4+ and T8+ T lymphocytes
METHODOLOGY
Flow cytometry
Subpopulations Identification 2
OUTLINE
Natural killer (NK) cell detection
METHODOLOGY
Flow cytometry
Subpopulations Identification 3
OUTLINE
Lymphocyte subpopulations Τ4, Τ8, Β, ΝΚ, γδ lymphocytes
METHODOLOGY
Flow cytometry
Subpopulations Identification 4
OUTLINE
Immunophenotype from peripheral blood_B cell clonality
METHODOLOGY
Flow cytometry
Subpopulations Identification 5
OUTLINE
Immunophenotype – Lymphoproliferative disorders typing
METHODOLOGY
Flow cytometry
Subpopulations Identification 6
OUTLINE
Bone Marrow immunophenotype
METHODOLOGY
Flow cytometry
Subpopulations Identification 7
OUTLINE
Bone Marrow immunophenotype-ΜΜ/PCD detection
METHODOLOGY
Flow cytometry
Subpopulations Identification 8
OUTLINE
Paroxysmal nocturnal hemoglobinuria (PNH) clone detection
METHODOLOGY
Flow cytometry
Subpopulations Identification 9
OUTLINE
CD34 expression of stem cells
METHODOLOGY
Flow cytometry
Kinship Relationship Identification 1
OUTLINE
DNA paternity testing
METHODOLOGY
PCR-Fragment Analysis
Kinship Relationship Identification 2
OUTLINE
Kinship Relationship Identification
METHODOLOGY
PCR-Fragment Analysis
Genetic Nutrition 1
OUTLINE
NutriNext - 'Sensitivity and intolerance testing'
METHODOLOGY
NGS
COMMENT
Genetic predisposition to celiac disease / Caffeine sensitivity / Lactose intolerance / Fructose intolerance / Alcohol sensitivity / Nickel sensitivity / Sulfite sensitivity / Full intolerance control
Various analyses 1
OUTLINE
DNA isolation from biological samples
METHODOLOGY
Extraction kit
Various analyses 2
OUTLINE
DNA isolation from difficult biological samples
METHODOLOGY
Extraction kit