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Growth and Development (Single Gene Tests)
GPC3 Whole Gene Sequencing
GPR143 Deletion and Duplication Analysis
GPR143 Whole Gene Sequencing
HADH Deletion and Duplication Analysis
HADH Whole Gene Sequencing
HDAC8 Deletion and Duplication Analysis
HDAC8 Whole Gene Sequencing
HESX1 Deletion and Duplication Analysis
HESX1 Whole Gene Sequencing
HNF1A Deletion and Duplication Analysis
HNF1A Whole Gene Sequencing
HNF1B Deletion and Duplication Analysis
HNF1B Whole Gene Sequencing
HNF4A Deletion and Duplication Analysis
HNF4A Whole Gene Sequencing
HPRT1 Deletion and Duplication Analysis
HPRT1 Whole Gene Sequencing
HRAS Deletion and Duplication Analysis
HRAS Whole Gene Sequencing
HSD3B7 Deletion and Duplication Analysis
HSD3B7 Whole Gene Sequencing
HSF4 Deletion and Duplication Analysis
HSF4 Whole Gene Sequencing
IDS Deletion and Duplication Analysis
IDS Whole Gene Sequencing
IKBKG Deletion and Duplication Analysis
IKBKG Whole Gene Sequencing
INS Deletion and Duplication Analysis
INS Whole Gene Sequencing
INSR Deletion and Duplication Analysis
INSR Whole Gene Sequencing
ITGB4 Deletion and Duplication Analysis
ITGB4 Whole Gene Sequencing
JAG1 Deletion and Duplication Analysis
JAG1 Whole Gene Sequencing
KCNJ1 Deletion and Duplication Analysis
KCNJ1 Whole Gene Sequencing
KCNJ11 Deletion and Duplication Analysis
KCNJ11 Whole Gene Sequencing
KDM6A Deletion and Duplication Analysis
KDM6A Whole Gene Sequencing
KISS1 Deletion and Duplication Analysis
KISS1 Whole Gene Sequencing
KISS1R Deletion and Duplication Analysis
KISS1R Whole Gene Sequencing
KLF11 Deletion and Duplication Analysis
KLF11 Whole Gene Sequencing
KLHL3 Deletion and Duplication Analysis
KLHL3 Whole Gene Sequencing
KRAS Deletion and Duplication Analysis
KRAS Whole Gene Sequencing
LAMA2 Deletion and Duplication Analysis
LAMA2 Whole Gene Sequencing
LAMA3 Deletion and Duplication Analysis
LAMA3 Whole Gene Sequencing
LAMB3 Deletion and Duplication Analysis
LAMB3 Whole Gene Sequencing
LAMC2 Deletion and Duplication Analysis
LAMC2 Whole Gene Sequencing
LEP Deletion and Duplication Analysis
LEP Whole Gene Sequencing
LEPR Deletion and Duplication Analysis
LEPR Whole Gene Sequencing
LHCGR Deletion and Duplication Analysis
LHCGR Whole Gene Sequencing
LHX3 Deletion and Duplication Analysis
LHX3 Whole Gene Sequencing
LHX4 Deletion and Duplication Analysis
LHX4 Whole Gene Sequencing
LIM2 Deletion and Duplication Analysis
LIM2 Whole Gene Sequencing
LMX1B Deletion and Duplication Analysis
LMX1B Whole Gene Sequencing
LRP5 Deletion and Duplication Analysis
LRP5 Whole Gene Sequencing
MAN2B1 Deletion and Duplication Analysis
MAN2B1 Whole Gene Sequencing
MAP2K1 Deletion and Duplication Analysis
MAP2K1 Whole Gene Sequencing
MAP2K2 Deletion and Duplication Analysis
MAP2K2 Whole Gene Sequencing
MBD5 Deletion and Duplication Analysis
MBD5 Whole Gene Sequencing
MC4R Deletion and Duplication Analysis
MC4R Whole Gene Sequencing
MKKS Deletion and Duplication Analysis
MKKS Whole Gene Sequencing
MKRN3 Deletion and Duplication Analysis
MKRN3 Whole Gene Sequencing
MLC1 Deletion and Duplication Analysis
MLC1 Whole Gene Sequencing
MYCN Deletion and Duplication Analysis
MYCN Whole Gene Sequencing
MYO5B Deletion and Duplication Analysis
MYO5B Whole Gene Sequencing
NDP Deletion and Duplication Analysis
NDP Whole Gene Sequencing
NEUROD1 Deletion and Duplication Analysis
NEUROD1 Whole Gene Sequencing
NEUROG3 Deletion and Duplication Analysis
NEUROG3 Whole Gene Sequencing
NF1 Deletion and Duplication Analysis
NF1 Whole Gene Sequencing
NFIX Deletion and Duplication Analysis
NFIX Whole Gene Sequencing
NHS Deletion and Duplication Analysis
NHS Whole Gene Sequencing
NIPBL Deletion and Duplication Analysis
NIPBL Whole Gene Sequencing
NKX2-5 Deletion and Duplication Analysis
NKX2-5 Whole Gene Sequencing
NOTCH2 Deletion and Duplication Analysis
NOTCH2 Whole Gene Sequencing
NR1H4 Deletion and Duplication Analysis
NR1H4 Whole Gene Sequencing
NRAS Deletion and Duplication Analysis
NRAS Whole Gene Sequencing
NROB1 Deletion and Duplication Analysis
NROB1 Whole Gene Sequencing
NSD1 Deletion and Duplication Analysis
NSD1 Whole Gene Sequencing
OCRL Deletion and Duplication Analysis
OCRL Whole Gene Sequencing
OFD1 Deletion and Duplication Analysis
OFD1 Whole Gene Sequencing
ORC1 Deletion and Duplication Analysis
ORC1 Whole Gene Sequencing
ORC4 Deletion and Duplication Analysis
ORC4 Whole Gene Sequencing
ORC6 Deletion and Duplication Analysis
ORC6 Whole Gene Sequencing
OSTM1 Deletion and Duplication Analysis
OSTM1 Whole Gene Sequencing
OTX2 Deletion and Duplication Analysis
OTX2 Whole Gene Sequencing
PAFAH1B1 Deletion and Duplication Analysis
PAFAH1B1 Whole Gene Sequencing
PAX3 Deletion and Duplication Analysis
PAX3 Whole Gene Sequencing
PAX4 Deletion and Duplication Analysis
PAX4 Whole Gene Sequencing
PAX8 Deletion and Duplication Analysis
PAX8 Whole Gene Sequencing
PCDH15 Deletion and Duplication Analysis
PCDH15 Whole Gene Sequencing
PCNT Deletion and Duplication Analysis
PCNT Whole Gene Sequencing
PCSK1 Deletion and Duplication Analysis
PCSK1 Whole Gene Sequencing
PDX1 Deletion and Duplication Analysis
PDX1 Whole Gene Sequencing
PEX1 Deletion and Duplication Analysis
PEX1 Whole Gene Sequencing
PHEX Deletion and Duplication Analysis
PHEX Whole Gene Sequencing
PIK3CA Deletion and Duplication Analysis
PIK3CA Whole Gene Sequencing
PKD1 Deletion and Duplication Analysis
PKD1 Whole Gene Sequencing
PKD2 Deletion and Duplication Analysis
PKD2 Whole Gene Sequencing
PKHD1 Deletion and Duplication Analysis
PKHD1 Whole Gene Sequencing
PLEKHM1 Deletion and Duplication Analysis
PLEKHM1 Whole Gene Sequencing
PLOD1 Deletion and Duplication Analysis
PLOD1 Whole Gene Sequencing
PLP1 Deletion and Duplication Analysis
PLP1 Whole Gene Sequencing
POMC Deletion and Duplication Analysis
POMC Whole Gene Sequencing
POR Deletion and Duplication Analysis
POR Whole Gene Sequencing
PORCN Deletion and Duplication Analysis
PORCN Whole Gene Sequencing
POU1F1 Deletion and Duplication Analysis
POU1F1 Whole Gene Sequencing
PPARG Deletion and Duplication Analysis
PPARG Whole Gene Sequencing
PRKAR1A Deletion and Duplication Analysis
PRKAR1A Whole Gene Sequencing
PROK2 Deletion and Duplication Analysis
PROK2 Whole Gene Sequencing
PROKR2 Deletion and Duplication Analysis
PROKR2 Whole Gene Sequencing
PROP1 Deletion and Duplication Analysis
PROP1 Whole Gene Sequencing
PRSS1 Deletion and Duplication Analysis
PRSS1 Whole Gene Sequencing
PTCH1 Deletion and Duplication Analysis
PTCH1 Whole Gene Sequencing
PTEN Deletion and Duplication Analysis
PTEN Whole Gene Sequencing
PTPN11 Deletion and Duplication Analysis
PTPN11 Whole Gene Sequencing
RAD21 Deletion and Duplication Analysis
RAD21 Whole Gene Sequencing
RAF1 Deletion and Duplication Analysis
RAF1 Whole Gene Sequencing
RBBP8 Deletion and Duplication Analysis
RBBP8 Whole Gene Sequencing
RBM8A Deletion and Duplication Analysis
RBM8A Whole Gene Sequencing
RET Deletion and Duplication Analysis
RET Whole Gene Sequencing
RMRP Deletion and Duplication Analysis
RMRP Whole Gene Sequencing
RNF135 Deletion and Duplication Analysis
RNF135 Whole Gene Sequencing
RNU4ATAC Deletion and Duplication Analysis
RNU4ATAC Whole Gene Sequencing
RPS6KA3 Deletion and Duplication Analysis
RPS6KA3 Whole Gene Sequencing
RS1 Deletion and Duplication Analysis
RS1 Whole Gene Sequencing
RUNX2 Deletion and Duplication Analysis
RUNX2 Whole Gene Sequencing
SALL1 Deletion and Duplication Analysis
SALL1 Whole Gene Sequencing
SALL4 Deletion and Duplication Analysis
SALL4 Whole Gene Sequencing
SBDS Deletion and Duplication Analysis
SBDS Whole Gene Sequencing
SDHB Deletion and Duplication Analysis
SDHB Whole Gene Sequencing
SDHD Deletion and Duplication Analysis
SDHD Whole Gene Sequencing
SETD2 Deletion and Duplication Analysis
SETD2 Whole Gene Sequencing
SHOC2 Deletion and Duplication Analysis
SHOC2 Whole Gene Sequencing
SIL1 Deletion and Duplication Analysis
SIL1 Whole Gene Sequencing
SKI Deletion and Duplication Analysis
SKI Whole Gene Sequencing
SLC12A1 Deletion and Duplication Analysis
SLC12A1 Whole Gene Sequencing
SLC12A3 Deletion and Duplication Analysis
SLC12A3 Whole Gene Sequencing
SLC16A1 Deletion and Duplication Analysis
SLC16A1 Whole Gene Sequencing
SLC26A4 Deletion and Duplication Analysis
SLC26A4 Whole Gene Sequencing
SLC29A3 Deletion and Duplication Analysis
SLC29A3 Whole Gene Sequencing
SLC2A2 Deletion and Duplication Analysis
SLC2A2 Whole Gene Sequencing
SLC5A1 Deletion and Duplication Analysis
SLC5A1 Whole Gene Sequencing
SMC1A Deletion and Duplication Analysis
SMC1A Whole Gene Sequencing
SMC3 Deletion and Duplication Analysis
SMC3 Whole Gene Sequencing
SNX10 Deletion and Duplication Analysis
SNX10 Whole Gene Sequencing
SOS1 Deletion and Duplication Analysis
SOS1 Whole Gene Sequencing
SOX2 Deletion and Duplication Analysis
SOX2 Whole Gene Sequencing
SOX9 Deletion and Duplication Analysis
SOX9 Whole Gene Sequencing
TAZ Deletion and Duplication Analysis
TAZ Whole Gene Sequencing
TBX19 Deletion and Duplication Analysis
TBX19 Whole Gene Sequencing
TBX5 Deletion and Duplication Analysis
TBX5 Whole Gene Sequencing
TCF4 Deletion and Duplication Analysis
TCF4 Whole Gene Sequencing
TCIRG1 Deletion and Duplication Analysis
TCIRG1 Whole Gene Sequencing
TDRD7 Deletion and Duplication Analysis
TDRD7 Whole Gene Sequencing
TFAP2A Deletion and Duplication Analysis
TFAP2A Whole Gene Sequencing
TGFBR1 Deletion and Duplication Analysis
TGFBR1 Whole Gene Sequencing
TGFBR2 Deletion and Duplication Analysis
TGFBR2 Whole Gene Sequencing
THRA Deletion and Duplication Analysis
THRA Whole Gene Sequencing
TJP2 Deletion and Duplication Analysis
TJP2 Whole Gene Sequencing
TMCO1 Deletion and Duplication Analysis
TMCO1 Whole Gene Sequencing
TNFRSF11A Deletion and Duplication Analysis
TNFRSF11A Whole Gene Sequencing
TNFSF11 Deletion and Duplication Analysis
TNFSF11 Whole Gene Sequencing
TRAPPC2 Deletion and Duplication Analysis
TRAPPC2 Whole Gene Sequencing
TSC1 Deletion and Duplication Analysis
TSC1 Whole Gene Sequencing
TSC2 Deletion and Duplication Analysis
TSC2 Whole Gene Sequencing
TSHB Deletion and Duplication Analysis
TSHB Whole Gene Sequencing
TSHR Deletion and Duplication Analysis
TSHR Whole Gene Sequencing
UCP2 Deletion and Duplication Analysis
UCP2 Whole Gene Sequencing
USH2A Deletion and Duplication Analysis
USH2A Whole Gene Sequencing
VIPAS39 Deletion and Duplication Analysis
VIPAS39 Whole Gene Sequencing
VPS13B Deletion and Duplication Analysis
VPS13B Whole Gene Sequencing
VPS33B Deletion and Duplication Analysis
VPS33B Whole Gene Sequencing
WDR73 Deletion and Duplication Analysis
WDR73 Whole Gene Sequencing
WFS1 Deletion and Duplication Analysis
WFS1 Whole gene Sequencing
WNK1 Deletion and Duplication Analysis
WNK1 Whole Gene Sequencing
WNK4 Deletion and Duplication Analysis
WNK4 Whole Gene Sequencing
ZEB2 Deletion and Duplication Analysis
ZEB2 Whole Gene Sequencing
Immunologic/Hematologic (NGS Panels)
CFHR1 Deletion and Duplication Analysis
CFHR1 Whole Gene Sequencing
Chronic Granulomatous Disease Deletion and Duplication Panel
Chronic Granulomatous Disease NGS Panel
Hemochromatosis Deletion and Duplication Panel
Hemochromatosis NGS Panel
Hereditary Spherocytosis Deletion and Duplication Panel
Hereditary Spherocytosis NGS Panel
Hereditary Spherocytosis, Autosomal Dominant Deletion and Duplication Panel
Hereditary Spherocytosis, Autosomal Dominant NGS Panel
Periodic Fever Deletion and Duplication Panel
Periodic Fever NGS Panel
Periodic Fever, 6 Gene Deletion and Duplication Panel
Periodic Fever, 6 Gene NGS Panel
Severe Combined Immunodeficiency Deletion and Duplication Panel
Severe Combined Immunodeficiency NGS Panel
Severe Congenital Neutropenia, Nonsyndromic Deletion and Duplication Panel
Severe Congenital Neutropenia, Nonsyndromic NGS Panel
Immunologic/Hematologic (Single Gene Tests)
ACVRL1 Deletion and Duplication Analysis
ACVRL1 Whole Gene Sequencing
ADA Deletion and Duplication Analysis
ADA Whole Gene Sequencing
ANK1 Deletion and Duplication Analysis
ANK1 Whole Gene Sequencing
AP3B1 Deletion and Duplication Analysis
AP3B1 Whole Gene Sequencing
ATM Deletion and Duplication Analysis
ATM Whole Gene Sequencing
ATRX Deletion and Duplication Analysis
ATRX Whole Gene Sequencing
BTK Deletion and Duplication Analysis
BTK Whole Gene Sequencing
CBS Deletion and Duplication Analysis
CBS Whole Gene Sequencing
CD3D Deletion and Duplication Analysis
CD3D Whole Gene Sequencing
CD3E Deletion and Duplication Analysis
CD3E Whole Gene Sequencing
CD40LG Deletion and Duplication Analysis
CD40LG Whole Gene Sequencing
CFH Deletion and Duplication Analysis
CFH Whole Gene Sequencing
COL17A1 Deletion and Duplication Analysis
COL17A1 Whole Gene Sequencing
CSF3R Deletion and Duplication Analysis
CSF3R Whole Gene Sequencing
CYBA Deletion and Duplication Analysis
CYBA Whole Gene Sequencing
CYBB Deletion and Duplication Analysis
CYBB Whole Gene Sequencing
ELANE Deletion and Duplication Analysis
ELANE Whole Gene Sequencing
ENG Deletion and Duplication Analysis
ENG Whole Gene Sequencing
EPB42 Deletion and Duplication Analysis
EPB42 Whole Gene Sequencing
F5 Deletion and Duplication Analysis
F5 Whole Gene Sequencing
F9 Deletion and Duplication Analysis
F9 Whole Gene Sequencing
Factor V Leiden (F5) Targeted Testing
FAS Deletion and Duplication Analysis
FAS Whole Gene Sequencing
FECH Deletion and Duplication Analysis
FECH Whole Gene Sequencing
FERMT3 Deletion and Duplication Analysis
FERMT3 Whole Gene Sequencing
FTH1 Deletion and Duplication Analysis
FTH1 Whole Gene Sequencing
G6PC3 Deletion and Duplication Analysis
G6PC3 Whole Gene Sequencing
GFI1 Deletion and Duplication Analysis
GFI1 Whole Gene Sequencing
HAMP Deletion and Duplication Analysis
HAMP Whole Gene Sequencing
HAX1 Deletion and Duplication Analysis
HAX1 Whole Gene Sequencing
HFE Deletion and Duplication Analysis
HFE Whole Gene Sequencing
HFE2 Deletion and Duplication Analysis
HFE2 Whole Gene Sequencing
HPRT1 Deletion and Duplication Analysis
HPRT1 Whole Gene Sequencing
IKBKG Deletion and Duplication Analysis
IKBKG Whole Gene Sequencing
IL1RN Deletion and Duplication Analysis
IL1RN Whole Gene Sequencing
IL2RG Deletion and Duplication Analysis
IL2RG Whole Gene Sequencing
IL7R Deletion and Duplication Analysis
IL7R Whole Gene Sequencing
JAK3 Deletion and Duplication Analysis
JAK3 Whole Gene Sequencing
LPIN2 Deletion and Duplication Analysis
LPIN2 Whole Gene Sequencing
MAN2B1 Deletion and Duplication Analysis
MAN2B1 Whole Gene Sequencing
MEFV Deletion and Duplication Analysis
MEFV Whole Gene Sequencing
MVK Deletion and Duplication Analysis
MVK Whole Gene Sequencing
NCF1 Deletion and Duplication Analysis
NCF2 Deletion and Duplication Analysis
NCF2 Whole Gene Sequencing
NCF4 Deletion and Duplication Analysis
NCF4 Whole Gene Sequencing
NLRP12 Deletion and Duplication Analysis
NLRP12 Whole Gene Sequencing
NLRP3 Deletion and Duplication Analysis
NLRP3 Whole Gene Sequencing
NOD2 Deletion and Duplication Analysis
NOD2 Whole Gene Sequencing
PSTPIP1 Deletion and Duplication Analysis
PSTPIP1 Whole Gene Sequencing
RAG1 Deletion and Duplication Analysis
RAG1 Whole Gene Sequencing
RAG2 Deletion and Duplication Analysis
RAG2 Whole Gene Sequencing
RBM8A Deletion and Duplication Analysis
RBM8A Whole Gene Sequencing
SBDS Deletion and Duplication Analysis
SBDS Whole Gene Sequencing
SH2D1A Deletion and Duplication Analysis
SH2D1A Whole Gene Sequencing
SLC29A3 Deletion and Duplication Analysis
SLC29A3 Whole Gene Sequencing
SLC40A1 Deletion and Duplication Analysis
SLC40A1 Whole Gene Sequencing
SLC4A1 Deletion and Duplication Analysis
SLC4A1 Whole Gene Sequencing
SPTA1 Deletion and Duplication Analysis
SPTA1 Whole Gene Sequencing
SPTB Deletion and Duplication Analysis
SPTB Whole Gene Sequencing
TFR2 Deletion and Duplication Analysis
TFR2 Whole Gene Sequencing
TNFRSF1A Deletion and Duplication Analysis
TNFRSF1A Whole Gene Sequencing
UGT1A1 Deletion and Duplication Analysis
UGT1A1 Whole Gene Sequencing
UROS Deletion and Duplication Analysis
UROS Whole Gene Sequencing
WAS Deletion and Duplication Analysis
WAS Whole Gene Sequencing
XIAP Deletion and Duplication Analysis
XIAP Whole Gene Sequencing
XK Deletion and Duplication Analysis
XK Whole Gene Sequencing
Metabolic (NGS Panels)
3-Methylcrotonyl-CoA Carboxylase Deficiency Deletion and Duplication Panel
3-Methylcrotonyl-CoA Carboxylase Deficiency NGS Panel
Alagille Syndrome Deletion and Duplication Panel
Alagille Syndrome NGS Panel
Arthrogryposis Renal Dysfunction Cholestasis Deletion and Duplication Panel
Arthrogryposis Renal Dysfunction Cholestasis NGS Panel
Bile Acid Synthesis Defect Deletion and Duplication Panel
Bile Acid Synthesis Defect NGS Panel
Creatine Deficiency Deletion and Duplication Panel
Creatine Deficiency NGS Panel
Familial Hypercholanemia Deletion and Duplication Panel
Familial Hypercholanemia NGS Panel
Jaundice Deletion and Duplication Panel
Jaundice NGS Panel
Maple Syrup Urine Disease Deletion and Duplication Panel
Maple Syrup Urine Disease NGS Panel
Progressive Familial Intrahepatic Cholestasis Deletion and Duplication Panel
Progressive Familial Intrahepatic Cholestasis NGS Panel
Sitosterolemia Deletion and Duplication Panel
Sitosterolemia NGS Panel
Tyrosinemia Deletion and Duplication Panel
Tyrosinemia NGS Panel
Metabolic (Single Gene Tests)
ABCB11 Deletion and Duplication Analysis
ABCB11 Whole Gene Sequencing
ABCB4 Deletion and Duplication Analysis
ABCB4 Whole Gene Sequencing
ABCC2 Deletion and Duplication Analysis
ABCC2 Whole Gene Sequencing
ABCD1 Deletion and Duplication Analysis
ABCD1 Whole Gene Sequencing
ABCD3 Deletion and Duplication Analysis
ABCD3 Whole Gene Sequencing
ABCG5 Deletion and Duplication Analysis