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Expanded Newborn Screening and Gene Sequencing Panel with ABCD1 and CYP21A2
Test Code D3004
Test Summary

This panel analyzes 269 genes that have been associated with conditions manifesting in the newborn and pediatric periods of life.

Turn-Around-Time (TAT)* 3 - 5 weeks
Acceptable Sample Types
Whole Blood (EDTA)
DNA, Isolated
Dried Blood Spots
Saliva
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
Commercial Insurance
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

AASS
ABCC8
ABCD1
ABCD4
ABCG5
ABCG8
ACAD8
ACAD9
ACADM
ACADS
ACADSB
ACADVL
ACAT1
ACSF3
ADA
ADK
AGA
AGL
AGPAT2
AGXT
AHCY
AK2
ALDH4A1
ALDH5A1
ALDOB
AMT
ARG1
ARSA
ARSB
ASL
ASS1
ATM
ATP2B2
ATP5E
ATP7A
ATP7B
AUH
BCKDHA
BCKDHB
BSCL2
BTD
CAV1
CBS
CD247
CD320
CD3D
CD3E
CD3G
CDH23
CFC1
CFTR
CIITA
CLN3
CLN5
CLN6
CLN8
CLRN1
CORO1A
CPS1
CPT1A
CPT2
CRYGD
CTH
CTNS
CYP11B1
CYP17A1
CYP21A2
CYP27A1
DBT
DCLRE1C
DECR1
DLD
DNAJC19
DOCK8
DPYD
DUOX2
DUOXA2
ENO3
EPM2A
ETFA
ETFB
ETFDH
ETHE1
EYA1
F5
FAH
FBP1
FOXH1
FOXI1
FOXN1
FTCD
G6PC
G6PD
GAA
GALC
GALE
GALK1
GALNS
GALT
GATA4
GATA6
GBE1
GCDH
GCH1
GCK
GCSH
GDF1
GJA1
GLA
GLB1
GLDC
GM2A
GNE
GNMT
GNPTAB
GNS
GPR98
GRHPR
GSS
GUSB
GYS1
GYS2
HADH
HADHA
HADHB
HAL
HAND1
HBB
HGD
HGSNAT
HLCS
HMGCL
HMGCS2
HPD
HSD17B10
HSD17B3
HSD3B2
HYAL1
IDS
IDUA
IL2RG
IL7R
INS
IVD
IYD
JAK3
KCNJ10
KCNJ11
LAMP2
LIG4
LIPA
LMBRD1
LPL
MAN2B1
MANBA
MAT1A
MCCC1
MCCC2
MCEE
MCOLN1
MED13L
MFSD8
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MTR
MTRR
MUT
MYO7A
NADKD1
NAGA
NAGLU
NAGS
NEU1
NHEJ1
NHLRC1
NKX2-5
NKX2-6
NOTCH1
NPC1
NPC2
OAT
OPA3
OPLAH
ORAI1
OTC
PAH
PAX8
PC
PCBD1
PCCA
PCCB
PCDH15
PDHA1
PDHX
PDP1
PDX1
PFKM
PGAM2
PGM1
PHKA1
PHKA2
PHKB
PHKG2
PMM2
PNP
POLG
PRKAG2
PRKDC
PRNP
PRODH
PSAP
PTPRC
PTRF
PTS
PYGL
PYGM
QDPR
RAC2
RAG1
RAG2
RFX5
RFXANK
RFXAP
SC5D
SERAC1
SERPINA1
SGSH
SIX1
SIX5
SLC17A5
SLC22A5
SLC25A13
SLC25A15
SLC25A20
SLC2A2
SLC37A3
SLC37A4
SLC5A5
SLC7A7
SMAD6
SMPD1
SPR
SRD5A2
STAT5B
STIM1
SUCLA2
SUCLG1
SUMF1
TAT
TAZ
TBX1
TG
TH
THRA
TMEM70
TPO
TPP1
TRHR
TSHB
TSHR
USH1C
USH1G
USH2A
VPS13A
ZAP70
ZFPM2
  • Test Code: D3004
  • Request a Sample Kit
  • Genes
    269