Our website is undergoing changes and some listed testing may not be available any longer. Except for Amish targeted testing and GAP testing, please call prior to ordering to be sure a test is available.
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Metabolic (Single Gene Tests)
ABCG5 Whole Gene Sequencing
ABCG8 Deletion and Duplication Analysis
ABCG8 Whole Gene Sequencing
AGXT Deletion and Duplication Analysis
AGXT Whole Gene Sequencing
AKR1D1 Deletion and Duplication Analysis
AKR1D1 Whole Gene Sequencing
ALDOB Deletion and Duplication Analysis
ALDOB Whole Gene Sequencing
AMACR Deletion and Duplication Analysis
AMACR Whole Gene Sequencing
AP3B1 Deletion and Duplication Analysis
AP3B1 Whole Gene Sequencing
AR Deletion and Duplication Analysis
AR Whole Gene Sequencing
ASAH1 Deletion and Duplication Analysis
ASAH1 Whole Gene Sequencing
ATP7A Deletion and Duplication Analysis
ATP7A Whole Gene Sequencing
ATP7B Deletion and Duplication Analysis
ATP7B Whole Gene Sequencing
ATP8B1 Deletion and Duplication Analysis
ATP8B1 Whole Gene Sequencing
BAAT Deletion and Duplication Analysis
BAAT Whole Gene Sequencing
BCKDHA Deletion and Duplication Analysis
BCKDHA Whole Gene Sequencing
BCKDHB Deletion and Duplication Analysis
BCKDHB Whole Gene Sequencing
BTD Deletion and Duplication Analysis
BTD Whole Gene Sequencing
CBS Deletion and Duplication Analysis
CBS Whole Gene Sequencing
CDC73 Deletion and Duplication Analysis
CDC73 Whole Gene Sequencing
CTNS Deletion and Duplication Analysis
CTNS Whole Gene Sequencing
CYP27A1 Deletion and Duplication Analysis
CYP27A1 Whole Gene Sequencing
CYP7B1 Deletion and Duplication Analysis
CYP7B1 Whole Gene Sequencing
DBT Deletion and Duplication Analysis
DBT Whole Gene Sequencing
DLD Deletion and Duplication Analysis
DLD Whole Gene Sequencing
EPHX1 Deletion and Duplication Analysis
EPHX1 Whole Gene Sequencing
FAH Deletion and Duplication Analysis
FAH Whole Gene Sequencing
FECH Deletion and Duplication Analysis
FECH Whole Gene Sequencing
G6PC Deletion and Duplication Analysis
G6PC Whole Gene Sequencing
GAA Deletion and Duplication Analysis
GAA Whole Gene Sequencing
GALC Deletion and Duplication Analysis
GALC Whole Gene Sequencing
GALNS Deletion and Duplication Analysis
GALNS Whole Gene Sequencing
GAMT Deletion and Duplication Analysis
GAMT Whole Gene Sequencing
GATM Deletion and Duplication Analysis
GATM Whole Gene Sequencing
GBA Deletion and Duplication Analysis
GBA Whole Gene Sequencing
GLA Deletion and Duplication Analysis
GLA Whole Gene Sequencing
GSTZ1 Deletion and Duplication Analysis
GSTZ1 Whole Gene Sequencing
HPD Deletion and Duplication Analysis
HPD Whole Gene Sequencing
HSD3B7 Deletion and Duplication Analysis
HSD3B7 Whole Gene Sequencing
IDS Deletion and Duplication Analysis
IDS Whole Gene Sequencing
JAG1 Deletion and Duplication Analysis
JAG1 Whole Gene Sequencing
LPL Deletion and Duplication Analysis
LPL Whole Gene Sequencing
MCCC1 Deletion and Duplication Analysis
MCCC1 Whole Gene Sequencing
MCCC2 Deletion and Duplication Analysis
MCCC2 Whole Gene Sequencing
MYO5B Deletion and Duplication Analysis
MYO5B Whole Gene Sequencing
NR1H4 Deletion and Duplication Analysis
NR1H4 Whole Gene Sequencing
NROB1 Deletion and Duplication Analysis
NROB1 Whole Gene Sequencing
OCRL Deletion and Duplication Analysis
OCRL Whole Gene Sequencing
OTC Deletion and Duplication Analysis
OTC Whole Gene Sequencing
PAH Deletion and Duplication Analysis
PAH Whole Gene Sequencing
PCCA Deletion and Duplication Analysis
PCCA Whole Gene Sequencing
PCCB Deletion and Duplication Analysis
PCCB Whole Gene Sequencing
PEPD Deletion and Duplication Analysis
PEPD Whole Gene Sequencing
PEX1 Deletion and Duplication Analysis
PEX1 Whole Gene Sequencing
PHEX Deletion and Duplication Analysis
PHEX Whole Gene Sequencing
PHKA2 Deletion and Duplication Analysis
PHKA2 Whole Gene Sequencing
PHKB Deletion and Duplication Analysis
PHKB Whole Gene Sequencing
PKLR Deletion and Duplication Analysis
PKLR Whole Gene Sequencing
PNPO Deletion and Duplication Analysis
PNPO Whole Gene Sequencing
POR Deletion and Duplication Analysis
POR Whole Gene Sequencing
PYGM Deletion and Duplication Analysis
PYGM Whole Gene Sequencing
SLC25A13 Deletion and Duplication Analysis
SLC25A13 Whole Gene Sequencing
SLC2A1 Deletion and Duplication Analysis
SLC2A1 Whole Gene Sequencing
SLC6A8 Deletion and Duplication Analysis
SLC6A8 Whole Gene Sequencing
SLC7A7 Deletion and Duplication Analysis
SLC7A7 Whole Gene Sequencing
TANGO2 Deletion and Duplication Analysis
TAT Deletion and Duplication Analysis
TAT Whole Gene Sequencing
TAZ Deletion and Duplication Analysis
TAZ Whole Gene Sequencing
TJP2 Deletion and Duplication Analysis
TJP2 Whole Gene Sequencing
VIPAS39 Deletion and Duplication Analysis
VIPAS39 Whole Gene Sequencing
VPS33B Deletion and Duplication Analysis
VPS33B Whole Gene Sequencing
Neurologic (NGS Panels)
3-Methylcrotonyl-CoA Carboxylase Deficiency Deletion and Duplication Panel
3-Methylcrotonyl-CoA Carboxylase Deficiency NGS Panel
Aicardi-Goutieres Syndromes Deletion and Duplication Panel
Aicardi-Goutieres Syndromes NGS Panel
Cornelia de Lange Deletion and Duplication Analysis Panel
Cornelia de Lange NGS Panel
Cowden Syndrome Deletion and Duplication Panel
Cowden Syndrome NGS Panel
Creatine Deficiency Deletion and Duplication Panel
Creatine Deficiency NGS Panel
DMD Deletion and Duplication Analysis
DMD Whole Gene Sequencing
GALC Deletion and Duplication Analysis
GALC Whole Gene Sequencing
Hyperekplexia Deletion and Duplication Panel
Hyperekplexia NGS Panel
Meier-Gorlin Syndrome Deletion and Duplication Panel
Meier-Gorlin Syndrome NGS Panel
Nemaline Congenital Myopathy Deletion and Duplication Panel
Nemaline Congenital Myopathy NGS Panel
Neurodegeneration with Brain Iron Accumulation Deletion and Duplication Panel
Neurodegeneration with Brain Iron Accumulation NGS Panel
Neurofibromatosis Deletion and Duplication Panel
Neurofibromatosis NGS Panel
Overgrowth and Intellectual Disability Deletion and Duplication Panel
Overgrowth and Intellectual Disability NGS Panel
Parkinson Disease, Early Onset Deletion and Duplication Panel
Parkinson Disease, Early Onset NGS Panel
Rett Plus Atypical Rett Syndrome Deletion and Duplication Panel
Rett Plus Atypical Rett Syndrome NGS Panel
Rett Syndrome Deletion and Duplication Panel
Rett Syndrome NGS Panel
Seckel Syndrome Deletion and Duplication Panel
Seckel Syndrome NGS Panel
Tuberous Sclerosis Complex Deletion and Duplication Panel
Tuberous Sclerosis Complex NGS Panel
Neurologic (Single Gene Tests)
ABCD1 Deletion and Duplication Analysis
ABCD1 Whole Gene Sequencing
ACTA1 Deletion and Duplication Analysis
ACTA1 Whole Gene Sequencing
ADAR Deletion and Duplication Analysis
ADAR Whole Gene Sequencing
AKT1 Deletion and Duplication Analysis
AKT1 Whole Gene Sequencing
AP4M1 Deletion and Duplication Analysis
AP4M1 Whole Gene Sequencing
ARHGEF9 Deletion and Duplication Analysis
ARHGEF9 Whole Gene Sequencing
ATM Deletion and Duplication Analysis
ATM Whole Gene Sequencing
ATP13A2 Deletion and Duplication Analysis
ATP13A2 Whole Gene Sequencing
ATP7A Deletion and Duplication Analysis
ATP7A Whole Gene Sequencing
ATP7B Deletion and Duplication Analysis
ATP7B Whole Gene Sequencing
ATR Deletion and Duplication Analysis
ATR Whole Gene Sequencing
ATRX Deletion and Duplication Analysis
ATRX Whole Gene Sequencing
BDNF Deletion and Duplication Analysis
BDNF Whole Gene Sequencing
BTD Deletion and Duplication Analysis
BTD Whole Gene Sequencing
C19ORF12 Deletion and Duplication Analysis
C19ORF12 Whole Gene Sequencing
CACNA1A Deletion and Duplication Analysis
CACNA1A Whole Gene Sequencing
CAPN3 Deletion and Duplication Analysis
CAPN3 Whole Gene Sequencing
CBS Deletion and Duplication Analysis
CBS Whole Gene Sequencing
CCM2 Deletion and Duplication Analysis
CCM2 Whole Gene Sequencing
CDKL5 Deletion and Duplication Analysis
CDKL5 Whole Gene Sequencing
CENPJ Deletion and Duplication Analysis
CENPJ Whole Gene Sequencing
CEP152 Deletion and Duplication Analysis
CEP152 Whole Gene Sequencing
CEP63 Deletion and Duplication Analysis
CEP63 Whole Gene Sequencing
CFL2 Deletion and Duplication Analysis
CFL2 Whole Gene Sequencing
CNTNAP2 Deletion and Duplication Analysis
CNTNAP2 Whole Gene Sequencing
CP Deletion and Duplication Analysis
CP Whole Gene Sequencing
CREBBP Deletion and Duplication Analysis
CREBBP Whole Gene Sequencing
CTDP1 Deletion and Duplication Analysis
CTDP1 Whole Gene Sequencing
CYP27A1 Deletion and Duplication Analysis
CYP27A1 Whole Gene Sequencing
CYP7B1 Deletion and Duplication Analysis
CYP7B1 Whole Gene Sequencing
DCAF17 Deletion and Duplication Analysis
DCAF17 Whole Gene Sequencing
DCX Deletion and Duplication Analysis
DCX Whole Gene Sequencing
DES Deletion and Duplication Analysis
DES Whole Gene Sequencing
DGUOK Deletion and Duplication Analysis
DGUOK Whole Gene Sequencing
DIS3L2 Deletion and Duplication Analysis
DIS3L2 Whole Gene Sequencing
DNAJC6 Deletion and Duplication Analysis
DNAJC6 Whole Gene Sequencing
DNMT3A Deletion and Duplication Analysis
DNMT3A Whole Gene Sequencing
EHMT1 Deletion and Duplication Analysis
EHMT1 Whole Gene Sequencing
EPM2A Deletion and Duplication Analysis
EPM2A Whole Gene Sequencing
EZH2 Deletion and Duplication Analysis
EZH2 Whole Gene Sequencing
FA2H Deletion and Duplication Analysis
FA2H Whole Gene Sequencing
FBXO7 Deletion and Duplication Analysis
FBXO7 Whole Gene Sequencing
FOLR1 Deletion and Duplication Analysis
FOLR1 Whole Gene Sequencing
FOXG1 Deletion and Duplication Analysis
FOXG1 Whole Gene Sequencing
FTL Deletion and Duplication Analysis
FTL Whole Gene Sequencing
GABRG2 Deletion and Duplication Analysis
GABRG2 Whole Gene Sequencing
GAMT Deletion and Duplication Analysis
GAMT Whole Gene Sequencing
GBA Deletion and Duplication Analysis
GBA Whole Gene Sequencing
GCH1 Deletion and Duplication Analysis
GCH1 Whole Gene Sequencing
GDAP1 Deletion and Duplication Analysis
GDAP1 Whole Gene Sequencing
GLRB Deletion and Duplication Analysis
GLRB Whole Gene Sequencing
GPC3 Deletion and Duplication Analysis
GPC3 Whole Gene Sequencing
GPHN Deletion and Duplication Analysis
GPHN Whole Gene Sequencing
HDAC8 Deletion and Duplication Analysis
HDAC8 Whole Gene Sequencing
HERC2 Deletion and Duplication Analysis
HERC2 Whole Gene Sequencing
HPRT1 Deletion and Duplication Analysis
HPRT1 Whole Gene Sequencing
IFIH1 Deletion and Duplication Analysis
IFIH1 Whole Gene Sequencing
KBTBD13 Deletion and Duplication Analysis
KBTBD13 Whole Gene Sequencing
KCND3 Deletion and Duplication Analysis
KCND3 Whole Gene Sequencing
KCNQ2 Deletion and Duplication Analysis
KCNQ2 Whole Gene Sequencing
KRIT1 Deletion and Duplication Analysis
KRIT1 Whole Gene Sequencing
LAMA2 Deletion and Duplication Analysis
LAMA2 Whole Gene Sequencing
LGI1 Deletion and Duplication Analysis
LGI1 Whole Gene Sequencing
LMNA Deletion and Duplication Analysis
LMNA Whole Gene Sequencing
LMNB1 Deletion and Duplication Analysis
LMNB1 Whole Gene Sequencing
MAN2B1 Deletion and Duplication Analysis
MAN2B1 Whole Gene Sequencing
MCCC1 Deletion and Duplication Analysis
MCCC1 Whole Gene Sequencing
MCCC2 Deletion and Duplication Analysis
MCCC2 Whole Gene Sequencing
MECP2 Deletion and Duplication Analysis
MECP2 Whole Gene Sequencing
MEF2C Deletion and Duplication Analysis
MEF2C Whole Gene Sequencing
MLC1 Deletion and Duplication Analysis
MLC1 Whole Gene Sequencing
MPLKIP Deletion and Duplication Analysis
MPLKIP Whole Gene Sequencing
MTM1 Deletion and Duplication Analysis
MTM1 Whole Gene Sequencing
MTPAP Deletion and Duplication Analysis
MTPAP Whole Gene Sequencing
NEB Deletion and Duplication Analysis
NEB Whole Gene Sequencing
NF1 Deletion and Duplication Analysis
NF1 Whole Gene Sequencing
NF2 Deletion and Duplication Analysis
NF2 Whole Gene Sequencing
NFIX Deletion and Duplication Analysis
NFIX Whole Gene Sequencing
NIPBL Deletion and Duplication Analysis
NIPBL Whole Gene Sequencing
NSD1 Deletion and Duplication Analysis
NSD1 Whole Gene Sequencing
OFD1 Deletion and Duplication Analysis
OFD1 Whole Gene Sequencing
PAFAH1B1 Deletion and Duplication Analysis
PAFAH1B1 Whole Gene Sequencing
PANK2 Deletion and Duplication Analysis
PANK2 Whole Gene Sequencing
PARK2 Deletion and Duplication Analysis
PARK2 Whole Gene Sequencing
PARK7 Deletion and Duplication Analysis
PARK7 Whole Gene Sequencing
PDCD10 Deletion and Duplication Analysis
PDCD10 Whole Gene Sequencing
PEPD Deletion and Duplication Analysis
PEPD Whole Gene Sequencing
PEX1 Deletion and Duplication Analysis
PEX1 Whole Gene Sequencing
PIK3CA Deletion and Duplication Analysis
PIK3CA Whole Gene Sequencing
PINK1 Deletion and Duplication Analysis
PINK1 Whole Gene Sequencing
PLA2G6 Deletion and Duplication Analysis
PLA2G6 Whole Gene Sequencing
PLOD1 Deletion and Duplication Analysis
PLOD1 Whole Gene Sequencing
PLP1 Deletion and Duplication Analysis
PLP1 Whole Gene Sequencing
PMP22 Deletion and Duplication Analysis
PMP22 Whole Gene Sequencing
PNPO Deletion and Duplication Analysis
PNPO Whole Gene Sequencing
POLG Deletion and Duplication Analysis
POLG Whole Gene Sequencing
POLR3B Deletion and Duplication Analysis
POLR3B Whole Gene Sequencing
PRKAR1A Deletion and Duplication Analysis
PRKAR1A Whole Gene Sequencing
PRRT2 Deletion and Duplication Analysis
PRRT2 Whole Gene Sequencing
PTCH1 Deletion and Duplication Analysis
PTCH1 Whole Gene Sequencing
PTEN Whole Gene Sequencing
RAD21 Deletion and Duplication Analysis
RAD21 Whole Gene Sequencing
RAPSN Deletion and Duplication Analysis
RAPSN Whole Gene Sequencing
RBBP8 Deletion and Duplication Analysis
RBBP8 Whole Gene Sequencing
RET Deletion and Duplication Analysis
RET Whole Gene Sequencing
RNASEH2A Deletion and Duplication Analysis
RNASEH2A Whole Gene Sequencing
RNASEH2B Deletion and Duplication Analysis
RNASEH2B Whole Gene Sequencing
RNASEH2C Deletion and Duplication Analysis
RNASEH2C Whole Gene Sequencing
RNF135 Deletion and Duplication Analysis
RNF135 Whole Gene Sequencing
RNU4ATAC Deletion and Duplication Analysis
RNU4ATAC Whole Gene Sequencing
SAMHD1 Deletion and Duplication Analysis
SAMHD1 Whole Gene Sequencing
SCN1A Deletion and Duplication Analysis
SCN1A Whole Gene Sequencing
SCN2A Deletion and Duplication Analysis
SCN2A Whole Gene Sequencing
SCN9A Deletion and Duplication Analysis
SCN9A Whole Gene Sequencing
SDHB Deletion and Duplication Analysis
SDHB Whole Gene Sequencing
SDHD Deletion and Duplication Analysis
SDHD Whole Gene Sequencing
SETX Deletion and Duplication Analysis
SETX Whole Gene Sequencing
SLC2A1 Deletion and Duplication Analysis
SLC2A1 Whole Gene Sequencing
SLC6A5 Deletion and Duplication Analysis
SLC6A5 Whole Gene Sequencing
SMC1A Deletion and Duplication Analysis
SMC1A Whole Gene Sequencing
SMC3 Deletion and Duplication Analysis
SMC3 Whole Gene Sequencing
SNCA Deletion and Duplication Analysis
SNCA Whole Gene Sequencing
SNIP1 Deletion and Duplication Analysis
SNIP1 Whole Gene Sequencing
SOX2 Deletion and Duplication Analysis
SOX2 Whole Gene Sequencing
SPAST Deletion and Duplication Analysis
SPAST Whole Gene Sequencing
SPG20 Deletion and Duplication Analysis
SPG20 Whole Gene Sequencing
SPG7 Deletion and Duplication Analysis
SPG7 Whole Gene Sequencing
SPRED1 Deletion and Duplication Analysis
SPRED1 Whole Gene Sequencing
ST3GAL5 Deletion and Duplication Analysis
ST3GAL5 Whole Gene Sequencing
STXBP1 Deletion and Duplication Analysis
STXBP1 Whole Gene Sequencing
TANGO2 Deletion and Duplication Analysis
THAP1 Deletion and Duplication Analysis
THAP1 Whole Gene Sequencing
TMCO1 Deletion and Duplication Analysis
TMCO1 Whole Gene Sequencing
TNNT1 Deletion and Duplication Analysis
TNNT1 Whole Gene Sequencing
TPM2 Deletion and Duplication Analysis
TPM2 Whole Gene Sequencing
TPM3 Deletion and Duplication Analysis
TPM3 Whole Gene Sequencing
TREX1 Deletion and Duplication Analysis
TREX1 Whole Gene Sequencing
TSC1 Deletion and Duplication Analysis
TSC1 Whole Gene Sequencing
TSC2 Deletion and Duplication Analysis
TSC2 Whole Gene Sequencing
VPS13B Deletion and Duplication Analysis
VPS13B Whole Gene Sequencing
WDR45 Deletion and Duplication Analysis
WDR45 Whole Gene Sequencing
WDR73 Deletion and Duplication Analysis
WDR73 Whole Gene Sequencing
XK Deletion and Duplication Analysis
XK Whole Gene Sequencing
ZEB2 Deletion and Duplication Analysis
ZEB2 Whole Gene Sequencing
Old Order Amish Targeted Mutation Analysis
Aicardi-Goutieres Syndrome Type 5 (SAMHD1) Targeted Testing
Amish Brittle Hair Brain Syndrome (MPLKIP) Targeted Testing
Amish Genetic Disease Panel (GAP)
Amish Heart Disease Risk Panel
Amish Nemaline Myopathy (TNNT1) Targeted Testing
Autosomal Recessive Osteopetrosis (TCIRG1) Targeted Testing
Byler Disease (ATP8B1) Targeted Testing
Cartilage-Hair Hypoplasia (RMRP) Targeted Testing
Charcot-Marie-Tooth Disease and Neuropathy (GDAP1) Targeted Testing
Cockayne Syndrome (ERCC6) Targeted Testing
Cohen Syndrome (VPS13B) Targeted Testing
Cortical Dysplasia-Focal Epilepsy Syndrome (CNTNAP2) Targeted Testing
Crigler-Najjar Syndrome (UGT1A1) Targeted Testing
Deafness and Myopia (SLITRK6) Targeted Testing
Dilated Cardiomyopathy and Woolly Hair Syndrome and Arrhythmogenic Right Ventricular Cardiomyopathy (DSP) Targeted Testing
Dystonia 6, Torsion (THAP1) Targeted Testing
Factor V Leiden (F5) Targeted Testing
Familial Hypertrophic Cardiomyopathy (MYBPC3) Targeted Testing
Familial Migraine and Epilepsy (CACNA1A) Targeted Testing
Glucose-Galactose Malabsorption (SLC5A1) Targeted Testing
Glycogen Storage Disease type 1a (G6PC) Targeted Testing
GM2 Synthase Deficiency (B4GALNT1) Targeted Testing
GM3 Synthase Deficiency (ST3GAL5) Targeted Testing
Hemophilia B (F9) Targeted Testing
HERC2 Defect Syndrome Targeted Testing
Hereditary Spherocytosis type 4 (SLC4A1) Targeted Testing
KPTN Defect Syndrome Targeted Testing
Long QT Syndrome 1 (KCNQ1) Targeted Testing
McKusick-Kaufman Syndrome (MKKS) Targeted Testing
Microcephalic Osteodysplastic Primordial Dwarfism (RNU4ATAC) Targeted Testing
Neurodegeneration with Brain Iron Accumulation (PANK2) Targeted Testing
Phenylketonuria (PAH) Targeted Testing
Prolidase Deficiency (PEPD) Targeted Testing
Propionic Acidemia (PCCB) Targeted Testing
Pyruvate Kinase Deficiency (PKLR) Targeted Testing
Spastic Ataxia 4 (MTPAP) Targeted Testing
Symptomatic Epilepsy and Skull Dysplasia (SNIP1) Targeted Testing
TMCO1 Defect Syndrome Targeted Testing
Troyer Syndrome (SPG20) Targeted Testing
Yoder Dystonia (WDR73) Targeted Testing