Test Code: ECGT03
Expanded Carrier Screening – Premium 620
Reproductive Genetics
Our ECS Premium 620 is a comprehensive expanded carrier screening panel that analyses 620 genes associated with a wide spectrum of autosomal recessive and X‑linked disorders, including cystic fibrosis, spinal muscular atrophy, fragile X syndrome, haemoglobinopathies, metabolic disorders, neuromuscular diseases, and many others. Carrier screening identifies individuals who carry one copy of a gene variant that, when inherited with another variant from the reproductive partner, could result in an affected child. This information empowers couples with reproductive knowledge, enabling informed family planning decisions, prenatal testing options, preimplantation genetic testing (PGT), and early intervention strategies. The ECS Premium 620 panel is suitable for individuals planning a family, those with a family history of genetic disorders, or those undergoing assisted reproductive technologies (ART). All variants are interpreted according to ACMG/AMP guidelines, and genetic counselling is recommended to discuss results and reproductive risks.
Sample Type
Peripheral Blood
Turnaround Time
21 -28 days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
Login to view pricing
Genes Analyzed
621 genes
AAAS
ABCA12
ABCA3
ABCA4
ABCB11
ABCB4
ABCC2
ABCC6
ABCC8
ABCD1
ACAD9
ACADM
ACADS
ACADSB
ACADVL
ACAT1
ACE
ACOX1
ACSF3
ADA
ADAMTS2
ADAMTSL4
ADGRG1
ADGRV1
ADK
AGA
AGL
AGPS
AGXT
AHCY
AHI1
AIPL1
AIRE
ALDH3A2
ALDH7A1
ALDOB
ALG1
ALG13
ALG6
ALMS1
ALPL
AMH
AMHR2
AMN
AMT
ANO10
AP1S1
AQP2
AR
ARG1
ARL6
ARSA
ARSB
ARSE
ARX
ASL
ASNS
ASPA
ASPM
ASS1
ATM
ATP6V1B1
ATP7A
ATP7B
ATP8B1
ATRX
AVPR2
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCHE
BCKDHA
BCKDHB
BCS1L
BLM
BLOC1S3
BLOC1S6
BMP1
BRIP1
BSND
BTD
BTK
CAD
CANT1
CAPN3
CASQ2
CBS
CC2D1A
CC2D2A
CCDC103
CCDC39
CCDC88C
CD3D
CD3E
CD40
CD40LG
CD59
CDH23
CEP152
CEP290
CERKL
CFTR
CHAT
CHM
CHRNE
CHRNG
CIITA
CLCN1
CLN3
CLN5
CLN6
CLN8
CLRN1
CNGA3
CNGB3
COL11A2
COL17A1
COL1A2
COL27A1
COL4A3
COL4A4
COL4A5
COL7A1
COX15
CPS1
CPT1A
CPT2
CRB1
CRTAP
CRYL1
CTNS
CTSA
CTSC
CTSD
CTSK
CYBA
CYBB
CYP11A1
CYP11B1
CYP11B2
CYP17A1
CYP19A1
CYP1B1
CYP21A2
CYP27A1
CYP27B1
CYP7B1
DBT
DCAF17
DCLRE1C
DDB2
DDX11
DGAT1
DGUOK
DHCR7
DHDDS
DKC1
DLD
DLL3
DMD
DNAH1
DNAH11
DNAH5
DNAI1
DNAI2
DNAJC19
DNAL1
DNMT3B
DOK7
DPYD
DUOX2
DYNC2H1
DYSF
EDA
EDAR
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELP1
EMD
EPG5
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
ESCO2
ETFA
ETFB
ETFDH
ETHE1
EVC
EVC2
EXOSC3
EYS
F11
F2
F5
F8
F9
FAH
FAM161A
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FBP1
FBXO7
FH
FHL1
FKBP10
FKRP
FKTN
FMO3
FMR1
FOXN1
FOXRED1
FRAS1
FREM2
FUCA1
G6PC
G6PC3
G6PD
GAA
GALC
GALE
GALK1
GALNS
GALNT3
GALT
GAMT
GATM
GBA
GBE1
GCDH
GCH1
GDF5
GFM1
GH1
GHR
GHRHR
GJB1
GJB2
GJB3
GJB6
GLA
GLB1
GLDC
GLE1
GNE
GNPAT
GNPTAB
GNPTG
GNS
GORAB
GP1BA
GP1BB
GP9
GPR56
GRHPR
GRIP1
GSS
GUCY2D
GUSB
HADH
HADHA
HADHB
HAMP
HAX1
HBA1
HBA2
HBB
HCFC1
HEXA
HEXB
HFE
HFE2
HGD
HGSNAT
HJV
HLCS
HMGCL
HMOX1
HOGA1
HPD
HPRT1
HPS1
HPS3
HPS4
HPS5
HPS6
HSD17B10
HSD17B3
HSD17B4
HSD3B2
HTRA2
HYAL1
HYLS1
IDS
IDUA
IGHMBP2
IKBKAP
IKBKB
IL2RG
IL7R
INVS
ITGA6
ITGB3
ITGB4
IVD
JAK3
KCNJ1
KCNJ11
L1CAM
LAMA2
LAMA3
LAMB3
LAMC2
LARGE1
LCA5
LDLR
LDLRAP1
LHCGR
LHX3
LIFR
LIG4
LIPA
LIPH
LMBRD1
LOXHD1
LPL
LRAT
LRP2
LRPPRC
LYST
MAK
MAN2B1
MANBA
MAT1A
MCCC1
MCCC2
MCEE
MCOLN1
MCPH1
MECP2
MECR
MED17
MEFV
MESP2
MFSD8
MID1
MKKS
MKS1
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MMUT
MOCS1
MOCS2
MPI
MPL
MPV17
MRE11
MTHFR
MTM1
MTR
MTRR
MTTP
MUSK
MUT
MVK
MYO15A
MYO7A
NAGLU
NAGS
NBN
NCF2
NDRG1
NDUFAF2
NDUFAF5
NDUFS4
NDUFS6
NDUFS7
NDUFV1
NEB
NEU1
NGLY1
NLRP7
NPC1
NPC2
NPHP1
NPHS1
NPHS2
NPR2
NR0B1
NR2E3
NSMCE3
NTRK1
OAT
OCA2
OCRL
OPA3
OSTM1
OTC
OTOA
OTOF
P3H1
PAH
PANK2
PC
PCBD1
PCCA
PCCB
PCDH15
PCNT
PDHA1
PDHB
PEPD
PET100
PEX1
PEX10
PEX12
PEX13
PEX16
PEX2
PEX26
PEX5
PEX6
PEX7
PFKM
PGM3
PHGDH
PHKB
PHKG2
PHYH
PIGN
PJVK
PKHD1
PLA2G6
PLOD1
PLP1
PMM2
PNPO
POLG
POLH
POMGNT1
POMT1
POMT2
POR
POU1F1
PPT1
PRCD
PRDM5
PREPL
PRF1
PROP1
PRPS1
PSAP
PTIPRC
PTS
PUS1
PYGM
QDPR
RAB23
RAG1
RAG2
RAPSN
RARS2
RDH12
RLBP1
RMRP
RNASEH2B
RNASEH2C
RP2
RPE65
RPGRIP1L
RS1
RTEL1
RXYLT1
RYR1
SACS
SAMD9
SAMHD1
SBDS
SCO2
SEC23B
SEPSECS
SERPINA1
SGCA
SGCB
SGCD
SGCG
SGSH
SIAT9
SKIV2L
SLC12A1
SLC12A3
SLC12A6
SLC17A5
SLC19A2
SLC19A3
SLC1A4
SLC22A5
SLC24A5
SLC25A13
SLC25A15
SLC25A20
SLC26A2
SLC26A3
SLC26A4
SLC27A4
SLC35A3
SLC37A4
SLC38A8
SLC39A4
SLC3A1
SLC45A2
SLC4A11
SLC5A5
SLC6A8
SLC7A7
SLC7A9
SMARCAL1
SMN1
SMPD1
SNAP29
SPG11
SPR
SRD5A2
ST3GAL5
STAR
STRC
STX11
STXBP2
SUCLA2
SUMF1
SUOX
SURF1
SYNE4
TAFAZZIN
TANGO2
TAT
TAZ
TBC1D24
TBCD
TBCE
TCIRG1
TCN2
TECPR2
TERT
TF
TFR2
TG
TGM1
TH
TK2
TMC1
TMEM216
TMEM67
TMPRSS3
TNXB
TPO
TPP1
TREX1
TRIM32
TRIM37
TRMU
TSEN54
TSFM
TSHB
TSHR
TTC37
TTN
TTPA
TULP1
TYMP
TYR
TYRP1
UBR1
UGT1A1
UPB1
USH1C
USH2A
VDR
VLDLR
VPS11
VPS13A
VPS13B
VPS45
VPS53
VRK1
VSX2
VWF
WAS
WDR62
WFS1
WISP3
WNT10A
WRN
XPA
XPC
ZBTB24
ZFYVE26
ZNF469
Methodology
Next Generation Sequencing, MLPA, and Capillary Electrophoresis
Need Help with This Test?
Our team of board-certified genomic scientists is available to answer your questions about test selection, sample requirements, and result interpretation.