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DDC Clinic
Molecular Diagnostics Laboratory

Telephone: 440-632-5532
e-mail: lab@ddcclinic.org

Genetic Tests by Disease Group

Genetic Tests by Disease Group

Genetic testing is separated into gene panel or single gene lists and organized by disease groups. Some disorders fit in multiple disease groups and are listed in each. There is also the option to search directly for a gene or disorder.

Cardiovascular (NGS Panels)

Arrhythmogenic Right Ventricular Cardiomyopathy Deletion and Duplication Panel
Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel
Brugada Syndrome Deletion and Duplication Panel
Brugada Syndrome NGS Panel
Cardiofaciocutaneous Syndrome Deletion and Duplication Panel
Cardiofaciocutaneous Syndrome NGS Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Deletion and Duplication Panel
Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel
Familial Atrial Septal Defect, Isolated, Nonsyndromic Deletion and Duplication Panel
Familial Atrial Septal Defect, Isolated, Nonsyndromic NGS Panel
Familial Hypercholesterolemia Deletion and Duplication Panel
Familial Hypercholesterolemia NGS Panel
Familial Hypercholesterolemia, Autosomal Dominant Deletion and Duplication Panel
Familial Hypercholesterolemia, Autosomal Dominant NGS Panel
Familial Thoracic Aortic Aneurysms Deletion and Duplication Panel
Familial Thoracic Aortic Aneurysms NGS Panel
Hypertrophic Cardiomyopathy Deletion and Duplication Panel
Hypertrophic Cardiomyopathy NGS Panel
Loeys Dietz Syndrome Deletion and Duplication Panel
Loeys Dietz Syndrome NGS Panel
Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel
Marfan Syndrome Deletion and Duplication Panel
Marfan Syndrome NGS Panel
Noncompaction Cardiomyopathy Deletion and Duplication Panel
Noncompaction Cardiomyopathy NGS Panel
Noonan Syndrome and Related Disorders Deletion and Duplication Panel
Noonan Syndrome and Related Disorders NGS Panel
Noonan Syndrome Deletion and Duplication Panel
Noonan Syndrome NGS Panel
Restrictive Cardiomyopathy Deletion and Duplication Panel
Restrictive Cardiomyopathy NGS Panel
Short QT Syndrome Deletion and Duplication Panel
Short QT Syndrome NGS Panel

Cardiovascular (Single Gene Tests)

ACTA2 Deletion and Duplication Analysis
ACTA2 Whole Gene Sequencing
ACTC1 Deletion and Duplication Analysis
ACTC1 Whole Gene Sequencing
ACTN2 Deletion and Duplication Analysis
ACTN2 Whole Gene Sequencing
AGK Deletion and Duplication Analysis
AGK Whole Gene Sequencing
AKAP9 Deletion and Duplication Analysis
AKAP9 Whole Gene Sequencing
ANK2 Deletion and Duplication Analysis
ANK2 Whole Gene Sequencing
APOB Deletion and Duplication Analysis
APOB Whole Gene Sequencing
BAG3 Deletion and Duplication Analysis
BAG3 Whole Gene Sequencing
BRAF Deletion and Duplication Analysis
BRAF Whole Gene Sequencing
CACNA1C Deletion and Duplication Analysis
CACNA1C Whole Gene Sequencing
CACNA2D1 Deletion and Duplication Analysis
CACNA2D1 Whole Gene Sequencing
CACNB2 Deletion and Duplication Analysis
CACNB2 Whole Gene Sequencing
CALM1 Deletion and Duplication Analysis
CALM1 Whole Gene Sequencing
CALM3 Deletion and Duplication Analysis
CALM3 Whole Gene Sequencing
CALR3 Deletion and Duplication Analysis
CALR3 Whole Gene Sequencing
CASQ2 Deletion and Duplication
CASQ2 Whole Gene Sequencing
CAV3 Deletion and Duplication Analysis
CAV3 Whole Gene Sequencing
CBL Deletion and Duplication Analysis
CBL Whole Gene Sequencing
CRYAB Deletion and Duplication Analysis
CRYAB Whole Gene Sequencing
CSRP3 Deletion and Duplication Analysis
CSRP3 Whole Gene Sequencing
CTNNA3 Deletion and Duplication Analysis
CTNNA3 Whole Gene Sequencing
DES Deletion and Duplication Analysis
DES Whole Gene Sequencing
DSC2 Deletion and Duplication Analysis
DSC2 Whole Gene Sequencing
DSG2 Deletion and Duplication Analysis
DSG2 Whole Gene Sequencing
DSP Deletion and Duplication Analysis
DSP Whole Gene Sequencing
DTNA Deletion and Duplication Analysis
DTNA Whole Gene Sequencing
FBN1 Deletion and Duplication Analysis
FBN1 Whole Gene Sequencing
GATA4 Deletion and Duplication Analysis
GATA4 Whole Gene Sequencing
GPD1L Deletion and Duplication
GPD1L Whole Gene Sequencing
HCN4 Deletion and Duplication Analysis
HCN4 Whole Gene Sequencing
HRAS Deletion and Duplication Analysis
HRAS Whole Gene Sequencing
JUP Deletion and Duplication Analysis
JUP Whole Gene Sequencing
KCND3 Deletion and Duplication Analysis
KCND3 Whole Gene Sequencing
KCNE1 Deletion and Duplication Analysis
KCNE1 Whole Gene Sequencing
KCNE2 Deletion and Duplication Analysis
KCNE2 Whole Gene Sequencing
KCNE3 Deletion and Duplication Analysis
KCNE3 Whole Gene Sequencing
KCNH2 Deletion and Duplication Analysis
KCNH2 Whole Gene Sequencing
KCNJ2 Deletion and Duplication Analysis
KCNJ2 Whole Gene Sequencing
KCNJ5 Deletion and Duplication Analysis
KCNJ5 Whole Gene Sequencing
KCNQ1 Deletion and Duplication Analysis
KCNQ1 Whole Gene Sequencing
KRAS Deletion and Duplication Analysis
KRAS Whole Gene Sequencing
LDB3 Deletion and Duplication Analysis
LDB3 Whole Gene Sequencing
LDLR Deletion and Duplication Analysis
LDLR Whole Gene Sequencing
LDLRAP1 Deletion and Duplication Analysis
LDLRAP1 Whole Gene Sequencing
LMNA Deletion and Duplication Analysis
LMNA Whole Gene Sequencing
MAP2K1 Deletion and Duplication Analysis
MAP2K1 Whole Gene Sequencing
MAP2K2 Deletion and Duplication Analysis
MAP2K2 Whole Gene Sequencing
MYBPC3 Deletion and Duplication Analysis
MYBPC3 Whole Gene Sequencing
MYH11 Deletion and Duplication Analysis
MYH11 Whole Gene Sequencing
MYH6 Deletion and Duplication Analysis
MYH6 Whole Gene Sequencing
MYH7 Deletion and Duplication Analysis
MYH7 Whole Gene Sequencing
MYL2 Deletion and Duplication Analysis
MYL2 Whole Gene Sequencing
MYL3 Deletion and Duplication Analysis
MYL3 Whole Gene Sequencing
MYLK Deletion and Duplication Analysis
MYLK Whole Gene Sequencing
MYLK2 Deletion and Duplication Analysis
MYLK2 Whole Gene Sequencing
MYOZ2 Deletion and Duplication Analysis
MYOZ2 Whole Gene Sequencing
MYPN Deletion and Duplication Analysis
MYPN Whole Gene Sequencing
NEXN Deletion and Duplication Analysis
NEXN Whole Gene Sequencing
NKX2-5 Deletion and Duplication Analysis
NKX2-5 Whole Gene Sequencing
NOTCH2 Deletion and Duplication Analysis
NOTCH2 Whole Gene Sequencing
NRAS Deletion and Duplication Analysis
NRAS Whole Gene Sequencing
PCSK9 Deletion and Duplication Analysis
PCSK9 Whole Gene Sequencing
PKP2 Deletion and Duplication Analysis
PKP2 Whole Gene Sequencing
PLN Deletion and Duplication Analysis
PLN Whole Gene Sequencing
PRKAG2 Deletion and Duplication Analysis
PRKAG2 Whole Gene Sequencing
PTPN11 Deletion and Duplication Analysis
PTPN11 Whole Gene Sequencing
RAF1 Deletion and Duplication Analysis
RAF1 Whole Gene Sequencing
RYR2 Deletion and Duplication Analysis
RYR2 Whole Gene Sequencing
SCN1B Deletion and Duplication Analysis
SCN1B Whole Gene Sequencing
SCN2B Deletion and Duplication Analysis
SCN2B Whole Gene Sequencing
SCN3B Deletion and Duplication Analysis
SCN3B Whole Gene Sequencing
SCN4B Deletion and Duplication Analysis
SCN4B Whole Gene Sequencing
SCN5A Deletion and Duplication Analysis
SCN5A Whole Gene Sequencing
SHOC2 Deletion and Duplication Analysis
SHOC2 Whole Gene Sequencing
SKI Deletion and Duplication Analysis
SKI Whole Gene Sequencing
SMAD3 Deletion and Duplication Analysis
SMAD3 Whole Gene Sequencing
SMAD6 Deletion and Duplication Analysis
SMAD6 Whole Gene Sequencing
SNTA1 Deletion and Duplication Analysis
SNTA1 Whole Gene Sequencing
SOS1 Deletion and Duplication Analysis
SOS1 Whole Gene Sequencing
TBX20 Deletion and Duplication Analysis
TBX20 Whole Gene Sequencing
TBX5 Deletion and Duplication Analysis
TBX5 Whole Gene Sequencing
TCAP Deletion and Duplication Analysis
TCAP Whole Gene Sequencing
TGFB2 Deletion and Duplication Analysis
TGFB2 Whole Gene Sequencing
TGFB3 Deletion and Duplication Analysis
TGFB3 Whole Gene Sequencing
TGFBR1 Deletion and Duplication Analysis
TGFBR1 Whole Gene Sequencing
TGFBR2 Deletion and Duplication Analysis
TGFBR2 Whole Gene Sequencing
TMEM43 Deletion and Duplication Analysis
TMEM43 Whole Gene Sequencing
TNNC1 Deletion and Duplication Analysis
TNNC1 Whole Gene Sequencing
TNNI3 Deletion and Duplication Analysis
TNNI3 Whole Gene Sequencing
TNNT2 Deletion and Duplication Analysis
TNNT2 Whole Gene Sequencing
TPM1 Deletion and Duplication Analysis
TPM1 Whole Gene Sequencing
TRDN Deletion and Duplication Analysis
TRDN Whole Gene Sequencing
TRPM4 Deletion and Duplication Analysis
TRPM4 Whole Gene Sequencing
TTR Deletion and Duplication Analysis
TTR Whole Gene Sequencing
VCL Deletion and Duplication Analysis
VCL Whole Gene Sequencing

Growth and Development (NGS Panels)

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
Central Precocious Puberty Deletion and Duplication Panel
Central Precocious Puberty NGS Panel
Combined Pituitary Hormone Deficiency Deletion and Duplication Panel
Combined Pituitary Hormone Deficiency NGS Panel
Congenital Adrenal Hyperplasia Deletion and Duplication Panel
Congenital Adrenal Hyperplasia NGS Panel
Congenital Cataract Deletion and Duplication Panel
Congenital Cataract NGS Panel
Congenital Hypothyroidism, Nongoitrous Deletion and Duplication Panel
Congenital Hypothyroidism, Nongoitrous 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
Early Onset Obesity Deletion and Duplication Panel
Early Onset Obesity NGS Panel
Familial Hypercholanemia Deletion and Duplication Panel
Familial Hypercholanemia NGS Panel
Familial Hyperinsulinism Deletion and Duplication Panel
Familial Hyperinsulinism NGS Panel
Gitelman Syndrome Deletion and Duplication Panel
Gitelman Syndrome NGS Panel
Isolated Growth Hormone Deficiency Deletion and Duplication Panel
Isolated Growth Hormone Deficiency NGS Panel
Jaundice Deletion and Duplication Panel
Jaundice NGS Panel
Kallmann Syndrome Deletion and Duplication Panel
Kallmann Syndrome NGS Panel
Marfan Syndrome Deletion and Duplication Panel
Marfan Syndrome NGS Panel
Maturity-Onset Diabetes of the Young Deletion and Duplication Panel
Maturity-Onset Diabetes of the Young NGS Panel
Meier-Gorlin Syndrome Deletion and Duplication Panel
Meier-Gorlin Syndrome NGS Panel
Microcephalic Osteodysplastic Primordial Dwarfism Deletion and Duplication Panel
Microcephalic Osteodysplastic Primordial Dwarfism NGS Panel
Monogenic Diabetes Deletion and Duplication Panel
Monogenic Diabetes NGS Panel
Nephrogenic Diabetes Insipidus Deletion and Duplication Panel
Nephrogenic Diabetes Insipidus NGS Panel
Neurofibromatosis Deletion and Duplication Panel
Neurofibromatosis NGS Panel
Noonan Syndrome and Related Disorders Deletion and Duplication Panel
Noonan Syndrome and Related Disorders NGS Panel
Noonan Syndrome Deletion and Duplication Panel
Noonan Syndrome NGS Panel
Osteopetrosis Deletion and Duplication Panel
Osteopetrosis NGS Panel
Osteopetrosis, Autosomal Dominant Deletion and Duplication Panel
Osteopetrosis, Autosomal Dominant NGS Panel
Overgrowth and Intellectual Disability Deletion and Duplication Panel
Overgrowth and Intellectual Disability NGS Panel
Progressive Familial Intrahepatic Cholestasis Deletion and Duplication Panel
Progressive Familial Intrahepatic Cholestasis NGS Panel
Pseudohypoaldosteronism Type II Deletion and Duplication Panel
Pseudohypoaldosteronism Type II NGS Panel
Seckel Syndrome Deletion and Duplication Panel
Seckel Syndrome NGS Panel
Short Stature, Autosomal Recessive Deletion and Duplication Panel
Short Stature, Autosomal Recessive NGS Panel
Tuberous Sclerosis Complex Deletion and Duplication Panel
Tuberous Sclerosis Complex NGS Panel

Growth and Development (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
ABCC8 Deletion and Duplication Analysis
ABCC8 Whole Gene Sequencing
ABCD3 Deletion and Duplication Analysis
ABCD3 Whole Gene Sequencing
AGK Deletion and Duplication Analysis
AGK Whole Gene Sequencing
AKR1D1 Deletion and Duplication Analysis
AKR1D1 Whole Gene Sequencing
AKT1 Deletion and Duplication Analysis
AKT1 Whole Gene Sequencing
AMACR Deletion and Duplication Analysis
AMACR Whole Gene Sequencing
ANOS1 Deletion and Duplication Analysis
ANOS1 Whole Gene Sequencing
AQP2 Deletion and Duplication Analysis
AQP2 Whole Gene Sequencing
ASCL1 Deletion and Duplication Analysis
ASCL1 Whole Gene Sequencing
ATP8B1 Deletion and Duplication Analysis
ATP8B1 Whole Gene Sequencing
ATR Deletion and Duplication Analysis
ATR Whole Gene Sequencing
AVPR2 Deletion and Duplication Analysis
AVPR2 Whole Gene Sequencing
BAAT Deletion and Duplication Analysis
BAAT Whole Gene Sequencing
BLK Deletion and Duplication Analysis
BLK Whole Gene Sequencing
BRAF Deletion and Duplication Analysis
BRAF Whole Gene Sequencing
BSND Deletion and Duplication Analysis
BSND Whole Gene Sequencing
BTK Deletion and Duplication Analysis
BTK Whole Gene Sequencing
CA2 Deletion and Duplication Analysis
CA2 Whole Gene Sequencing
CBL Deletion and Duplication Analysis
CBL Whole Gene Sequencing
CDC6 Deletion and Duplication Analysis
CDC6 Whole Gene Sequencing
CDKN1C Deletion and Duplication Analysis
CDKN1C Whole Gene Sequencing
CDT1 Deletion and Duplication Analysis
CDT1 Whole Gene Sequencing
CEL Deletion and Duplication Analysis
CEL 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
CHD7 Deletion and Duplication Analysis
CHD7 Whole Gene Sequencing
CLCN7 Deletion and Duplication Analysis
CLCN7 Whole Gene Sequencing
CLCNKB Deletion and Duplication Analysis
CLCNKB Whole Gene Sequencing
CREBBP Deletion and Duplication Analysis
CREBBP Whole Gene Sequencing
CRYAA Deletion and Duplication Analysis
CRYAA Whole Gene Sequencing
CRYAB Deletion and Duplication Analysis
CRYAB Whole Gene Sequencing
CRYBB1 Deletion and Duplication Analysis
CRYBB1 Whole Gene Sequencing
CRYBB3 Deletion and Duplication Analysis
CRYBB3 Whole Gene Sequencing
CTDP1 Deletion and Duplication Analysis
CTDP1 Whole Gene Sequencing
CUL3 Deletion and Duplication Analysis
CUL3 Whole Gene Sequencing
CYP11B1 Deletion and Duplication Analysis
CYP11B1 Whole Gene Sequencing
CYP21A2 Deletion and Duplication Analysis
CYP21A2 Whole Gene Sequencing
CYP7B1 Deletion and Duplication Analysis
CYP7B1 Whole Gene Sequencing
DIS3L2 Deletion and Duplication Analysis
DIS3L2 Whole Gene Sequencing
DNMT3A Deletion and Duplication Analysis
DNMT3A Whole Gene Sequencing
EDN3 Deletion and Duplication Analysis
EDN3 Whole Gene Sequencing
EIF2AK3 Deletion and Duplication Analysis
EIF2AK3 Whole Gene Sequencing
EPHX1 Deletion and Duplication Analysis
EPHX1 Whole Gene Sequencing
ERCC6 Deletion and Duplication Analysis
ERCC6 Whole Gene Sequencing
EZH2 Deletion and Duplication Analysis
EZH2 Whole Gene Sequencing
FGF8 Deletion and Duplication Analysis
FGF8 Whole Gene Sequencing
FGFR1 Deletion and Duplication Analysis
FGFR1 Whole Gene Sequencing
FOXP3 Deletion and Duplication Analysis
FOXP3 Whole Gene Sequencing
FYCO1 Deletion and Duplication Analysis
FYCO1 Whole Gene Sequencing
G6PC2 Deletion and Duplication Analysis
G6PC2 Whole Gene Sequencing
GALK1 Deletion and Duplication Analysis
GALK1 Whole Gene Sequencing
GCK Deletion and Duplication Analysis
GCK Whole Gene Sequencing
GCNT2 Deletion and Duplication Analysis
GCNT2 Whole Gene Sequencing
GDNF Deletion and Duplication Analysis
GDNF Whole Gene Sequencing
GH1 Deletion and Duplication Analysis
GH1 Whole Gene Sequencing
GHR Deletion and Duplication Analysis
GHR Whole Gene Sequencing
GHRHR Deletion and Duplication Analysis
GHRHR Whole Gene Sequencing
GHSR Deletion and Duplication Analysis
GHSR Whole Gene Sequencing
GJA8 Deletion and Duplication Analysis
GJA8 Whole Gene Sequencing
GLIS3 Deletion and Duplication Analysis
GLIS3 Whole Gene Sequencing
GLRA1 Deletion and Duplication Analysis
GLRA1 Whole Gene Sequencing
GLUD1 Deletion and Duplication Analysis
GLUD1 Whole Gene Sequencing
GNRHR Deletion and Duplication Analysis
GNRHR Whole Gene Sequencing
GPC3 Deletion and Duplication Analysis
GPC3 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
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
INS Deletion and Duplication Analysis
INS Whole Gene Sequencing
INSR Deletion and Duplication Analysis
INSR 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
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
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
LRP5 Deletion and Duplication Analysis
LRP5 Whole Gene Sequencing
MAP2K1 Deletion and Duplication Analysis
MAP2K1 Whole Gene Sequencing
MAP2K2 Deletion and Duplication Analysis
MAP2K2 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
MYO5B Deletion and Duplication Analysis
MYO5B 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
NSD1 Deletion and Duplication Analysis
NSD1 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
PAX4 Deletion and Duplication Analysis
PAX4 Whole Gene Sequencing
PAX8 Deletion and Duplication Analysis
PAX8 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
PIK3CA Deletion and Duplication Analysis
PIK3CA Whole Gene Sequencing
PLEKHM1 Deletion and Duplication Analysis
PLEKHM1 Whole Gene Sequencing
PLOD1 Deletion and Duplication Analysis
PLOD1 Whole Gene Sequencing
POMC Deletion and Duplication Analysis
POMC Whole Gene Sequencing
POU1F1 Deletion and Duplication Analysis
POU1F1 Whole Gene Sequencing
PPARG Deletion and Duplication Analysis
PPARG 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
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
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
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
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
TBX19 Deletion and Duplication Analysis
TBX19 Whole Gene Sequencing
TBX5 Deletion and Duplication Analysis
TBX5 Whole Gene Sequencing
TCIRG1 Deletion and Duplication Analysis
TCIRG1 Whole Gene Sequencing
TDRD7 Deletion and Duplication Analysis
TDRD7 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
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
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

Immunologic/Hematologic (NGS Panels)

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)

ADA Deletion and Duplication Analysis
ADA Whole Gene Sequencing
ANK1 Deletion and Duplication Analysis
ANK1 Whole Gene Sequencing
BTK Deletion and Duplication Analysis
BTK Whole Gene Sequencing
CD3D Deletion and Duplication Analysis
CD3D Whole Gene Sequencing
CD3E Deletion and Duplication Analysis
CD3E 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
EPB42 Deletion and Duplication Analysis
EPB42 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
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
MEFV Deletion and Duplication Analysis
MEFV Whole Gene Sequencing
MVK Deletion and Duplication Analysis
MVK Whole Gene Sequencing
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
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
WAS Deletion and Duplication Analysis
WAS 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
ABCD3 Deletion and Duplication Analysis
ABCD3 Whole Gene Sequencing
ABCG5 Deletion and Duplication Analysis
ABCG5 Whole Gene Sequencing
ABCG8 Deletion and Duplication Analysis
ABCG8 Whole Gene Sequencing
AKR1D1 Deletion and Duplication Analysis
AKR1D1 Whole Gene Sequencing
AMACR Deletion and Duplication Analysis
AMACR Whole Gene Sequencing
ASAH1 Deletion and Duplication Analysis
ASAH1 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
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
G6PC Deletion and Duplication Analysis
G6PC 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
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
JAG1 Deletion and Duplication Analysis
JAG1 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
PAH Deletion and Duplication Analysis
PAH Whole Gene Sequencing
PCCB Deletion and Duplication Analysis
PCCB Whole Gene Sequencing
PEPD Deletion and Duplication Analysis
PEPD Whole Gene Sequencing
PKLR Deletion and Duplication Analysis
PKLR Whole Gene Sequencing
PNPO Deletion and Duplication Analysis
PNPO Whole Gene Sequencing
PYGM Deletion and Duplication Analysis
PYGM Whole Gene Sequencing
SLC2A1 Deletion and Duplication Analysis
SLC2A1 Whole Gene Sequencing
SLC6A8 Deletion and Duplication Analysis
SLC6A8 Whole Gene Sequencing
TAT Deletion and Duplication Analysis
TAT 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
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)

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
ARHGEF9 Deletion and Duplication Analysis
ARHGEF9 Whole Gene Sequencing
ATP13A2 Deletion and Duplication Analysis
ATP13A2 Whole Gene Sequencing
ATP7B Deletion and Duplication Analysis
ATP7B Whole Gene Sequencing
ATR Deletion and Duplication Analysis
ATR 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
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
DES Deletion and Duplication Analysis
DES 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
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
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
LMNA Deletion and Duplication Analysis
LMNA 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
MPLKIP Deletion and Duplication Analysis
MPLKIP 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
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
PEPD Deletion and Duplication Analysis
PEPD 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
PNPO Deletion and Duplication Analysis
PNPO Whole Gene Sequencing
POLG Deletion and Duplication Analysis
POLG Whole Gene Sequencing
PRRT2 Deletion and Duplication Analysis
PRRT2 Whole Gene Sequencing
PTCH1 Deletion and Duplication Analysis
PTCH1 Whole Gene Sequencing
PTEN Deletion and Duplication Analysis
PTEN Whole Gene Sequencing
RAD21 Deletion and Duplication Analysis
RAD21 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
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
SPG20 Deletion and Duplication Analysis
SPG20 Whole Gene Sequencing
SPRED1 Deletion and Duplication Analysis
SPRED1 Whole Gene Sequencing
ST3GAL5 Deletion and Duplication Analysis
ST3GAL5 Whole Gene Sequencing
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

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
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
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