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Tests > by Gene > E

EARS2

Dystonia Exome
Epilepsy Exome

EBF3

Ataxia Exome

EBP

Rhizomelic Chondrodysplasia Punctata Panel
Targeted Analysis

ECEL1

Distal Arthrogryposes Panel
Single Gene Analysis
Targeted Analysis

ECHS1

Dystonia Exome

ECM1

Epilepsy Exome

EDN1

Craniofacial Panel

EDNRA

Craniofacial Panel

EEF12A

Targeted Analysis

EEF1A2

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

EEF2

Ataxia Exome

EFEMP2

Aortopathy Comprehensive Panel

EFHC1

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

EFL1

Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Thrombocytopenia Panel

EFNB1

Ambiguous Genitalia Panel
Craniofacial Panel
Facial Dysostosis Panel
Single Gene Analysis
Targeted Analysis

EFTUD1

Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel

EFTUD2

Craniofacial Panel
Epilepsy Exome
Facial Dysostosis Panel
Microcephaly Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

EGF

Hereditary Tubulopathy and Nephrolithiasis Panel

EGFR

Comprehensive Hereditary Cancer Panel
Digestive Disease Panel

EGLN1

Hereditary Pheochromocytoma and Paraganglioma Panel
Single Gene Analysis
Targeted Analysis

EGR2

Ataxia Exome

EHMT1

Epilepsy Exome
Monogenic Obesity Panel
Non-Specific Intellectual Disability Panel
Rett/Angelman Syndrome Panel
Single Gene Analysis
Targeted Analysis

EIF2AK3

Comprehensive Neonatal Diabetes Mutation Analysis
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Single Gene Analysis
Targeted Analysis

EIF2AK4

Congenital Heart Disease Panel

EIF2B1

Ataxia Exome
Comprehensive Neonatal Diabetes Mutation Analysis
Monogenic Diabetes Panel
Neonatal Diabetes Panel

EIF2B2

Ataxia Exome
Premature Ovarian Failure Panel

EIF2B3

Ataxia Exome

EIF2B4

Ataxia Exome
Premature Ovarian Failure Panel

EIF2B5

Ataxia Exome
Macrocephaly Panel
Premature Ovarian Failure Panel

EIF2S3

Comprehensive Neonatal Diabetes Mutation Analysis
Hyperinsulinism Panel
Microcephaly Panel
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

ELAC2

Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Hypertrophic Cardiomyopathy Panel

ELANE

Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Severe Congenital Neutropenia Panel
Single Gene Analysis
Targeted Analysis

ELN

Congenital Heart Disease Panel

ELOVL4

Ataxia Exome
Epilepsy Exome

ELOVL5

Ataxia Exome

EMD

Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Arrhythmogenic Cardiomyopathy Panel
Cardiomyopathy Comprehensive Panel
Congenital Myopathy Panel
Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

EML1

Comprehensive Brain Malformation Panel
Hydrocephalus Panel

EMX2

Epilepsy Exome

ENG

Congenital Heart Disease Panel
Hereditary Colorectal Cancer Panel
Hereditary Hemorrhagic Telangiectasia (HHT) Panel
Single Gene Analysis

ENPP1

Hypophosphatemic Rickets Panel
Single Gene Analysis

ENTPD1

Ataxia Exome

EOMES

Ataxia Exome

EP300

Cornelia de Lange and Related Disorders Panel
Hyperinsulinism Panel
Microcephaly Panel
Monogenic Obesity Panel
Non-Specific Intellectual Disability Panel
Rubinstein-Taybi Syndrome Panel
Single Gene Analysis
Targeted Analysis

EPAS1

Hereditary Pheochromocytoma and Paraganglioma Panel
Single Gene Analysis
Targeted Analysis

EPB41L1

Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

EPCAM

Comprehensive Hereditary Cancer Panel
Digestive Disease Panel
Hereditary Breast and Ovarian Cancer Panel
Hereditary Colorectal Cancer Panel
Hereditary Gastric Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Leukemia and Breast Cancer Panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Hereditary Myeloid Malignancy Panel
Hereditary Prostate Cancer Panel
Liver Disease Panel
Lynch Syndrome Panel
Single Gene Analysis
Targeted Analysis

EPG5

Epilepsy Exome
Single Gene Analysis
Targeted Analysis

EPHB4

Hereditary Hemorrhagic Telangiectasia (HHT) Panel

EPM2A

Ataxia Exome
Epilepsy Exome
Targeted Analysis

EPT1

Ataxia Exome

ERCC3

Ataxia Exome

ERCC4

Ataxia Exome
Fanconi Anemia Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Single Gene Analysis
Targeted Analysis

ERCC5

Ataxia Exome

ERCC6

Ataxia Exome
Female Infertility panel
Microcephaly Panel

ERCC6L2

Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel

ERCC8

Ataxia Exome
Microcephaly Panel

ERF

Craniofacial Panel
Single Gene Analysis
Targeted Analysis

ERLIN1

Ataxia Exome

ERLIN2

Ataxia Exome
Autosomal Recessive Non-Specific Intellectual Disability Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ERMARD

Epilepsy Exome
Single Gene Analysis
Targeted Analysis

ESCO2

Ambiguous Genitalia Panel
Cornelia de Lange and Related Disorders Panel
Craniofacial Panel
Robert Syndrome Testing (ESCO2)
Single Gene Analysis
Targeted Analysis

ESR1

Female Infertility panel

ETHE1

Ataxia Exome
Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Single Gene Analysis

ETV6

Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Leukemia and Breast Cancer Panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Hereditary Myeloid Malignancy Panel
Single Gene Analysis
Targeted Analysis
Thrombocytopenia Panel

EVC

Craniofacial Panel
Facial Dysostosis Panel
Single Gene Analysis
Targeted Analysis

EVC2

Craniofacial Panel
Facial Dysostosis Panel
Single Gene Analysis
Targeted Analysis

EXOSC3

Ataxia Exome
Comprehensive Brain Malformation Panel
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

EXOSC8

Comprehensive Brain Malformation Panel

EXOSC9

Comprehensive Brain Malformation Panel

EXT1

Targeted Analysis

EYA1

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Craniofacial Panel
Hereditary Cystic and Glomerular Disorders Panel

EYA4

Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel

EZH2

Macrocephaly Panel
Single Gene Analysis
Targeted Analysis

EZR

Autosomal Recessive Non-Specific Intellectual Disability Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis