Panel ABCA3 Sequencing
ABCA4 Sequencing
ABCB11 Sequencing
ABCB4 Sequencing
ABCC2 Sequencing
ABCC6 Sequencing
ABCC8 Sequencing
ACVR1 Sequencing
ADA2 Sequencing
ADAR Sequencing
AIFM1 selected exon sequencing
AIMP1 Sequencing
ANG Sequencing
ANGPT1 Sequencing
APC Del/Dup analysis
APC Sequencing
APP Sequencing
ASPM Sequencing
ATP8B1 Sequencing
AUTS2 Sequencing
BEST1 Sequencing
BMPR1A Sequencing
BMPR2 Sequencing
BRIP1 Sequencing
BSCL2 Sequencing
C9ORF72 Repeat analysis
CABP4 Sequencing
CACNA1F Sequencing
Cardio expedited panel
CASK Sequencing
CCBE1 Sequencing
CCDC114 Sequencing
CDKL5 Sequencing
CDKN1C Sequencing
CENPJ Sequencing
CFP Sequencing
CFTR Sequencing
CHMP2B Sequencing
Chr. Y deletions
Ciliary functional analysis PCD
CLCN2 Sequencing
CNGA3 Sequencing
CNGB3 Sequencing
COL10A1 Sequencing
COL1A1 Sequencing
COL1A2 Sequencing
COL3A1 Sequencing
COL4A1 Sequencing
COL4A2 Sequencing
CSF1R Sequencing
CTC1 Sequencing
CTDP1 Sequencing
CYB5R3 Sequencing
CYP11B1/CYP11B1B2 chimeric gene
CYP1B1 Sequencing
DHH Sequencing
DNM2 Sequencing
DOCK8 Sequencing
DPP6 Genotyping
DSP Sequencing
EGR2 Sequencing
ELANE Sequencing
ELN Sequencing
EMD Sequencing
ENPP1 Sequencing
EpiSign complete
EpiSign complete early onset
EpiSign targeted
ERF Sequencing
ESCO2 Sequencing
EXOSC3 Sequencing
F12 (Exon 9) Sequencing
F7 Sequencing
F8 Sequencing
FA2H Sequencing
FAM126A Sequencing
FANCA Sequencing
FANCB Sequencing
FANCC Sequencing
FANCE Sequencing
FANCF Sequencing
FANCG Sequencing
FANCI Sequencing
FANCL Sequencing
FAT4 Sequencing
FBN1 Sequencing
FGD4 Sequencing
FGFR1 Sequencing
FGFR2 Sequencing
FGFR3 Sequencing
FIG4 Sequencing
FLCN Sequencing
FLT4 Sequencing
FMR1-CGG Repeat Analysis
FOXC1 Sequencing
FOXC2 Sequencing
FOXE1 Del/Dup analysis
FOXF1 Sequencing
FOXG1 Sequencing
FOXL2 Sequencing
FOXP3 Sequencing
FRMD7 Sequencing
FTL Sequencing
FUS Sequencing
G6PC3 Sequencing
GARS1 Sequencing
GATA1 Sequencing
GATA4 Sequencing
GBA Sequencing
GDAP1 Sequencing
GFI1 Sequencing
GGCX Sequencing
GJB1 Sequencing
GJC2 Sequencing
GJC2 Sequencing
GLA Del/Dup analysis
GLA Sequencing
GNAS (Codon 201, 227)
GNAS Sequencing
GPC3 Sequencing
GPR143 Sequencing
GPR179 Sequencing
GRM6 Sequencing
GRN Sequencing
HCN4 Sequencing
HDAC8 Sequencing
HEPACAM Sequencing
HESX1 Del/Dup analysis
HEXA Sequencing
HOXB13 Sequencing
HPGD Sequencing
HSPB1 Sequencing
HSPB8 Sequencing
HSPB8 Sequencing (HMN)
HSPD1 Sequencing
IDS Sequencing
IFIH1 Sequencing
IGHMBP2 Sequencing
IRF6 Sequencing
ITGA3 Sequencing
KCNE1 Sequencing
KCNH2 Sequencing
KCNJ11 Sequencing
KCNJ5 Sequencing
KCNQ1 Sequencing
KLLN promotor Methylation analysis
LAMP2 Sequencing
LDLR Del/Dup analysis
LHX3 Del/Dup analysis
LHX4 Del/Dup analysis
LIFR Sequencing
LITAF Sequencing
LMNA Del/Dup analysis
LMNA Sequencing
LMNA Sequencing + CNV
LRRK2 (PARK8) Sequencing
LRSAM1 Sequencing
MAPT Sequencing
MC4R Sequencing
MCPH1 Sequencing
MECP2 Sequencing
Methylation 11p15; 7p12; 7q21; 14q32; 15q11; 20q13
Methylation Chr.11p15 (KCNQ1OT1 & H19)
Methylation Chr.14
Methylation Chr.15q11
Methylation Chr.20
MFN2 Sequencing
MLH1 Sequencing
MPZ Sequencing
MSH2 Sequencing
MSH6 Sequencing
MTM1 Sequencing
MTMR2 Sequencing
MUSK Sequencing
MUTYH 2 founder mutations sequencing
MUTYH Sequencing
MYOC Sequencing
NDRG1 Sequencing
NEFL Sequencing
NGF Sequencing
NGS Amyotrophic lateral sclerosis ALS
NGS Aorta and arterial dilatation/dissection
NGS Aorta and mitralis valve defects
NGS Arrhythmia
NGS Arthrogryposis
NGS BAP1 – HCS panel
NGS Blindness Albinism
NGS Blindness CSNB
NGS Breast and ovarian cancer – HCS panel
NGS Brugada syndrome
NGS Cardiomyopathy
NGS Chronic lymphatic leukemia
NGS Colorectal cancer panel polyposis
NGS Cone-rod dystrophy and macula degeneration
NGS Congenital Heart Defects
NGS Congenital stationary nightblindness
NGS Cornelia de Lange syndrome
NGS Cowden syndrome
NGS Cutis laxa and related disorders
NGS Dementia/ALS
NGS Disorder of sex development DSD
NGS Dyslipidemia
NGS Ehlers-Danlos syndromes
NGS Epilepsy
NGS Fetal akinesia deformation sequence FADS
NGS Gastric cancer – HCS-panel
NGS Glaucoma
NGS Hemophagocytic syndrome (HLH)
NGS Hereditary cancer panel 1
NGS Hereditary cancer panel 2
NGS Hyperinsulinism
NGS Hypothyroidism
NGS Idiopathic pulmonary arterial hypertension
NGS Intellectual disability
NGS Leber’s congenital amaurosis LCA
NGS Lens luxation and related syndromes
NGS Linkeropathies and EDS-related disorders
NGS Long QT-syndrome
NGS Lymphedema
NGS Marfan syndrome and marfan-like disorders
NGS Microcephaly
NGS MMR – HCS panel
NGS Movement disorders
NGS Muscle disorders
NGS Neonatal diabetes mellitus
NGS Neurodegeneration with brain iron accumulation NBIA
NGS Neuropathy
NGS Obesitome
NGS Optic atrophy
NGS Osteogenesis imperfecta and related disorders
NGS Pancreatic cancer – HCS panel
NGS Parkinson
NGS Pontocerebellar hypoplasia PCH
NGS Preconception panel
NGS Preconception panel (for consanguineous couples)
NGS Primary ciliary dyskinesia PCD
NGS Primary immunodeficiency PID
NGS Prostate cancer – HCS panel
NGS Renal cell carcinoma
NGS Retinitis pigmentosa
NGS Segmental overgrowth disorders
NGS Skeletal Dysplasia
NGS Stickler syndrome and related disorders
NGS Sudden cardiac death
NGS Treatable metabolic neurodegenerative disorders
NGS Vascular malformations
NGS White matter disease
NIPBL Sequencing
NKX2-1 Sequencing
NKX2-5 Sequencing
NPC1 Sequencing
NPC2 Sequencing
NR1H4 Sequencing
NYX Sequencing
OCA2 Sequencing
OPA1 Sequencing
OPA3 Sequencing
OPTN Sequencing
OTX2 Sequencing
PALB2 Sequencing
PARK7 Sequencing
PAX6 Sequencing
PAX8 Del/Dup analysis
PINK1 (PARK6) Sequencing
PITX2 Sequencing
PLG Sequencing
PLN Sequencing
PLP1 Del/Dup analysis
PLP1 Sequencing
PMP22 Del/Dup analysis
PMP22 Sequencing
PMP22 Sequencing
PMS2 Sequencing
POLR1C Sequencing
POLR3A Sequencing
POLR3B Sequencing
PORCN Sequencing
POU1F1 Del/Dup analysis
Prescreening Multi Locus UPD (MLUPD)
PRK2 (PARK2) Sequencing
PRKAG2 Sequencing
PRKAR1A Sequencing
PRNP Sequencing
PROP1 Del/Dup analysis
PRPH2 Sequencing
PSEN1 Sequencing
PSEN2 Sequencing
PTCH1 Sequencing
PTEN Del/Dup analysis
PTEN Sequencing
PTH1R Sequencing
RAB23 Sequencing
RAB7A Sequencing
RAD51C Sequencing
RARS2 Sequencing
RASA1 Sequencing
RNASEH2A Sequencing
RNASEH2B Sequencing
RNASEH2C Sequencing
RNASET2 Sequencing
RNF43 Sequencing
RP2 Sequencing
RPGR Sequencing
RPL11 Sequencing
RPL15 Sequencing
RPL17 Sequencing
RPL26 Sequencing
RPL27 Sequencing
RPL31 Sequencing
RPL35A Sequencing
RPL5 Sequencing
RPS10 Sequencing
RPS15A Sequencing
RPS17 Sequencing
RPS19 Sequencing
RPS24 Sequencing
RPS26 Sequencing
RPS27 Sequencing
RPS28 Sequencing
RPS29 Sequencing
RPS7 Sequencing
RPS8 Sequencing
RS1 Sequencing
SAMHD1 Sequencing
Sanger Blackfan-Diamond anemia
Sanger Fanconi anemia
SBDS Sequencing
SEPTIN9 Sequencing
SEPTIN9 Sequencing
SERPING1 Sequencing
SETX Sequencing
SFTPB Sequencing
SFTPC Sequencing
SGCE Sequencing
SH3BP2 Sequencing
SH3TC2 Sequencing
SHANK3 Sequencing
SHOX Sequencing
SIX6 Sequencing
SLC26A4 Sequencing
SLC45A2 Sequencing
SLCO2A1 Sequencing
SMAD4 Sequencing
SMC1A Sequencing
SMPD1 Sequencing
SNCA (PARK1) Sequencing
SNORD118 Sequencing
SOD1 Sequencing
SOX18 Sequencing
SOX2 Sequencing
SPTLC1 Sequencing
STAT3 Sequencing
STIL Sequencing
STK11 Sequencing
TARDBP Sequencing
TAZ Sequencing
TBX5 Sequencing
TEK Sequencing
TGFB1 Sequencing
THAP1 Sequencing
THRB Sequencing
TMEM106B Sequencing
TMEM63A Sequencing
TOE1 Sequencing
TOR1A Sequencing
TP53 Sequencing
TPO Del/Dup analysis
TREX1 Sequencing
TRPM1 Sequencing
TRPM4 Sequencing
TRPS1 Sequencing
TRPV4 Sequencing
TSEN2 Sequencing
TSEN34 Sequencing
TSEN54 Sequencing
TSHR Sequencing
TSR2 Sequencing
TTR Sequencing
TUBB4A Sequencing
TWIST1 Sequencing
TYR Sequencing
UBE3A Sequencing
UFM1 Select exon sequencing
UPD Chr.11p
UPD Chr.14
UPD Chr.15
UPD Chr.20
UPD Chr.7
VCP Sequencing
VEGFC Sequencing
VRK1 Sequencing
WAS Sequencing
WDR62 Sequencing
WDR73 Sequencing
WNK1 Sequencing
WT1 Del/Dup analysis
XYLT1 Sequencing