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DDC Clinic
Molecular Diagnostics Laboratory

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

Genetic Tests by Gene

Genetic Tests by Gene

A B C D E F G H I J K L M N O P R S T U V W X Z

ABCA12

ABCA12 Deletion and Duplication Analysis
ABCA12 Whole Gene Sequencing

ABCB11

ABCB11 Deletion and Duplication Analysis
ABCB11 Whole Gene Sequencing
Jaundice Deletion and Duplication Panel
Jaundice NGS Panel
Progressive Familial Intrahepatic Cholestasis Deletion and Duplication Panel
Progressive Familial Intrahepatic Cholestasis NGS Panel

ABCB4

ABCB4 Deletion and Duplication Analysis
ABCB4 Whole Gene Sequencing
Jaundice Deletion and Duplication Panel
Jaundice NGS Panel
Progressive Familial Intrahepatic Cholestasis Deletion and Duplication Panel
Progressive Familial Intrahepatic Cholestasis NGS Panel

ABCC2

ABCC2 Deletion and Duplication Analysis
ABCC2 Whole Gene Sequencing
Jaundice Deletion and Duplication Panel
Jaundice NGS Panel

ABCC6

ABCC6 Deletion and Duplication Analysis
ABCC6 Whole Gene Sequencing

ABCC8

ABCC8 Deletion and Duplication Analysis
ABCC8 Whole Gene Sequencing
Familial Hyperinsulinism Deletion and Duplication Panel
Familial Hyperinsulinism NGS Panel
Maturity-Onset Diabetes of the Young Deletion and Duplication Panel
Maturity-Onset Diabetes of the Young NGS Panel
Monogenic Diabetes Deletion and Duplication Panel
Monogenic Diabetes NGS Panel

ABCD1

ABCD1 Deletion and Duplication Analysis
ABCD1 Whole Gene Sequencing

ABCD3

ABCD3 Deletion and Duplication Analysis
ABCD3 Whole Gene Sequencing
Bile Acid Synthesis Defect Deletion and Duplication Panel
Bile Acid Synthesis Defect NGS Panel

ABCG5

ABCG5 Deletion and Duplication Analysis
ABCG5 Whole Gene Sequencing
Sitosterolemia Deletion and Duplication Panel
Sitosterolemia NGS Panel

ABCG8

ABCG8 Deletion and Duplication Analysis
ABCG8 Whole Gene Sequencing
Sitosterolemia Deletion and Duplication Panel
Sitosterolemia NGS Panel

ACTA1

ACTA1 Deletion and Duplication Analysis
ACTA1 Whole Gene Sequencing
Nemaline Congenital Myopathy Deletion and Duplication Panel
Nemaline Congenital Myopathy NGS Panel

ACTA2

ACTA2 Deletion and Duplication Analysis
ACTA2 Whole Gene Sequencing
Familial Thoracic Aortic Aneurysms Deletion and Duplication Panel
Familial Thoracic Aortic Aneurysms NGS Panel

ACTC1

ACTC1 Deletion and Duplication Analysis
ACTC1 Whole Gene Sequencing
Familial Atrial Septal Defect, Isolated, Nonsyndromic Deletion and Duplication Panel
Familial Atrial Septal Defect, Isolated, Nonsyndromic NGS Panel
Hypertrophic Cardiomyopathy Deletion and Duplication Panel
Hypertrophic Cardiomyopathy NGS Panel
Noncompaction Cardiomyopathy Deletion and Duplication Panel
Noncompaction Cardiomyopathy NGS Panel
Restrictive Cardiomyopathy Deletion and Duplication Panel
Restrictive Cardiomyopathy NGS Panel

ACTN2

ACTN2 Deletion and Duplication Analysis
ACTN2 Whole Gene Sequencing
Hypertrophic Cardiomyopathy Deletion and Duplication Panel
Hypertrophic Cardiomyopathy NGS Panel

ACVRL1

ACVRL1 Deletion and Duplication Analysis
ACVRL1 Whole Gene Sequencing

ADA

ADA Deletion and Duplication Analysis
ADA Whole Gene Sequencing
Severe Combined Immunodeficiency Deletion and Duplication Panel
Severe Combined Immunodeficiency NGS Panel

ADAR

ADAR Deletion and Duplication Analysis
ADAR Whole Gene Sequencing
Aicardi-Goutieres Syndromes Deletion and Duplication Panel
Aicardi-Goutieres Syndromes NGS Panel

AGK

AGK Deletion and Duplication Analysis
AGK Whole Gene Sequencing
Congenital Cataract Deletion and Duplication Panel
Congenital Cataract NGS Panel

AGXT

AGXT Deletion and Duplication Analysis
AGXT Whole Gene Sequencing

AKAP9

AKAP9 Deletion and Duplication Analysis
AKAP9 Whole Gene Sequencing
Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel

AKR1D1

AKR1D1 Deletion and Duplication Analysis
AKR1D1 Whole Gene Sequencing
Bile Acid Synthesis Defect Deletion and Duplication Panel
Bile Acid Synthesis Defect NGS Panel

AKT1

AKT1 Deletion and Duplication Analysis
AKT1 Whole Gene Sequencing
Cowden Syndrome Deletion and Duplication Panel
Cowden Syndrome NGS Panel

ALDOB

ALDOB Deletion and Duplication Analysis
ALDOB Whole Gene Sequencing

AMACR

AMACR Deletion and Duplication Analysis
AMACR Whole Gene Sequencing
Bile Acid Synthesis Defect Deletion and Duplication Panel
Bile Acid Synthesis Defect NGS Panel

ANK1

ANK1 Deletion and Duplication Analysis
ANK1 Whole Gene Sequencing
Hereditary Spherocytosis Deletion and Duplication Panel
Hereditary Spherocytosis NGS Panel
Hereditary Spherocytosis, Autosomal Dominant Deletion and Duplication Panel
Hereditary Spherocytosis, Autosomal Dominant NGS Panel

ANK2

ANK2 Deletion and Duplication Analysis
ANK2 Whole Gene Sequencing
Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel

ANKRD11

ANKRD11 Deletion and Duplication Analysis
ANKRD11 Whole Gene Sequencing

ANOS1

ANOS1 Deletion and Duplication Analysis
ANOS1 Whole Gene Sequencing
Kallmann Syndrome Deletion and Duplication Panel
Kallmann Syndrome NGS Panel

AP3B1

AP3B1 Deletion and Duplication Analysis
AP3B1 Whole Gene Sequencing

AP4M1

AP4M1 Deletion and Duplication Analysis
AP4M1 Whole Gene Sequencing

APOB

APOB Deletion and Duplication Analysis
APOB Whole Gene Sequencing
Familial Hypercholesterolemia Deletion and Duplication Panel
Familial Hypercholesterolemia NGS Panel
Familial Hypercholesterolemia, Autosomal Dominant Deletion and Duplication Panel
Familial Hypercholesterolemia, Autosomal Dominant NGS Panel

AQP2

AQP2 Deletion and Duplication Analysis
AQP2 Whole Gene Sequencing
Nephrogenic Diabetes Insipidus Deletion and Duplication Panel
Nephrogenic Diabetes Insipidus NGS Panel

AR

AR Deletion and Duplication Analysis
AR Whole Gene Sequencing

ARHGEF9

ARHGEF9 Deletion and Duplication Analysis
ARHGEF9 Whole Gene Sequencing
Hyperekplexia Deletion and Duplication Panel
Hyperekplexia NGS Panel

ASAH1

ASAH1 Deletion and Duplication Analysis
ASAH1 Whole Gene Sequencing

ASCL1

ASCL1 Deletion and Duplication Analysis
ASCL1 Whole Gene Sequencing

ATM

ATM Deletion and Duplication Analysis
ATM Whole Gene Sequencing

ATP13A2

ATP13A2 Deletion and Duplication Analysis
ATP13A2 Whole Gene Sequencing
Neurodegeneration with Brain Iron Accumulation Deletion and Duplication Panel
Neurodegeneration with Brain Iron Accumulation NGS Panel
Parkinson Disease, Early Onset Deletion and Duplication Panel
Parkinson Disease, Early Onset NGS Panel

ATP7A

ATP7A Deletion and Duplication Analysis
ATP7A Whole Gene Sequencing

ATP7B

ATP7B Deletion and Duplication Analysis
ATP7B Whole Gene Sequencing

ATP8B1

Alagille Syndrome Deletion and Duplication Panel
Alagille Syndrome NGS Panel
ATP8B1 Deletion and Duplication Analysis
ATP8B1 Whole Gene Sequencing
Byler Disease (ATP8B1) Targeted Testing
Jaundice Deletion and Duplication Panel
Jaundice NGS Panel
Progressive Familial Intrahepatic Cholestasis Deletion and Duplication Panel
Progressive Familial Intrahepatic Cholestasis NGS Panel

ATR

ATR Deletion and Duplication Analysis
ATR Whole Gene Sequencing
Seckel Syndrome Deletion and Duplication Panel
Seckel Syndrome NGS Panel

ATRX

ATRX Deletion and Duplication Analysis
ATRX Whole Gene Sequencing

AVPR2

AVPR2 Deletion and Duplication Analysis
AVPR2 Whole Gene Sequencing
Nephrogenic Diabetes Insipidus Deletion and Duplication Panel
Nephrogenic Diabetes Insipidus NGS Panel
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