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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

C19ORF12

C19ORF12 Deletion and Duplication Analysis
C19ORF12 Whole Gene Sequencing
Neurodegeneration with Brain Iron Accumulation Deletion and Duplication Panel
Neurodegeneration with Brain Iron Accumulation NGS Panel

CA2

CA2 Deletion and Duplication Analysis
CA2 Whole Gene Sequencing
Osteopetrosis Deletion and Duplication Panel
Osteopetrosis NGS Panel

CACNA1A

CACNA1A Deletion and Duplication Analysis
CACNA1A Whole Gene Sequencing
Familial Migraine and Epilepsy (CACNA1A) Targeted Testing

CACNA1C

Brugada Syndrome Deletion and Duplication Panel
Brugada Syndrome NGS Panel
CACNA1C Deletion and Duplication Analysis
CACNA1C Whole Gene Sequencing
Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel
Short QT Syndrome Deletion and Duplication Panel
Short QT Syndrome NGS Panel

CACNA2D1

Brugada Syndrome Deletion and Duplication Panel
Brugada Syndrome NGS Panel
CACNA2D1 Deletion and Duplication Analysis
CACNA2D1 Whole Gene Sequencing
Short QT Syndrome Deletion and Duplication Panel
Short QT Syndrome NGS Panel

CACNB2

Brugada Syndrome Deletion and Duplication Panel
Brugada Syndrome NGS Panel
CACNB2 Deletion and Duplication Analysis
CACNB2 Whole Gene Sequencing
Short QT Syndrome Deletion and Duplication Panel
Short QT Syndrome NGS Panel

CALM1

CALM1 Deletion and Duplication Analysis
CALM1 Whole Gene Sequencing
Catecholaminergic Polymorphic Ventricular Tachycardia Deletion and Duplication Panel
Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel
Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel

CALM3

CALM3 Deletion and Duplication Analysis
CALM3 Whole Gene Sequencing
Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel

CALR3

CALR3 Deletion and Duplication Analysis
CALR3 Whole Gene Sequencing
Hypertrophic Cardiomyopathy Deletion and Duplication Panel
Hypertrophic Cardiomyopathy NGS Panel

CAPN3

CAPN3 Deletion and Duplication Analysis
CAPN3 Whole Gene Sequencing

CASQ2

CASQ2 Deletion and Duplication
CASQ2 Whole Gene Sequencing
Catecholaminergic Polymorphic Ventricular Tachycardia Deletion and Duplication Panel
Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel

CAV3

CAV3 Deletion and Duplication Analysis
CAV3 Whole Gene Sequencing
Hypertrophic Cardiomyopathy Deletion and Duplication Panel
Hypertrophic Cardiomyopathy NGS Panel
Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel

CBL

CBL Deletion and Duplication Analysis
CBL Whole Gene Sequencing
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

CBS

CBS Deletion and Duplication Analysis
CBS Whole Gene Sequencing

CCM2

CCM2 Deletion and Duplication Analysis
CCM2 Whole Gene Sequencing

CD3D

CD3D Deletion and Duplication Analysis
CD3D Whole Gene Sequencing
Severe Combined Immunodeficiency Deletion and Duplication Panel
Severe Combined Immunodeficiency NGS Panel

CD3E

CD3E Deletion and Duplication Analysis
CD3E Whole Gene Sequencing
Severe Combined Immunodeficiency Deletion and Duplication Panel
Severe Combined Immunodeficiency NGS Panel

CD40LG

CD40LG Deletion and Duplication Analysis
CD40LG Whole Gene Sequencing

CDC6

CDC6 Deletion and Duplication Analysis
CDC6 Whole Gene Sequencing
Meier-Gorlin Syndrome Deletion and Duplication Panel
Meier-Gorlin Syndrome NGS Panel

CDC73

CDC73 Deletion and Duplication Analysis
CDC73 Whole Gene Sequencing

CDKL5

CDKL5 Deletion and Duplication Analysis
CDKL5 Whole Gene Sequencing
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

CDKN1C

CDKN1C Deletion and Duplication Analysis
CDKN1C Whole Gene Sequencing
Overgrowth and Intellectual Disability Deletion and Duplication Panel
Overgrowth and Intellectual Disability NGS Panel

CDT1

CDT1 Deletion and Duplication Analysis
CDT1 Whole Gene Sequencing
Meier-Gorlin Syndrome Deletion and Duplication Panel
Meier-Gorlin Syndrome NGS Panel

CEL

CEL Deletion and Duplication Analysis
CEL Whole Gene Sequencing
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

CENPJ

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

CEP152

CEP152 Deletion and Duplication Analysis
CEP152 Whole Gene Sequencing
Seckel Syndrome Deletion and Duplication Panel
Seckel Syndrome NGS Panel

CEP63

CEP63 Deletion and Duplication Analysis
CEP63 Whole Gene Sequencing
Seckel Syndrome Deletion and Duplication Panel
Seckel Syndrome NGS Panel

CFH

CFH Deletion and Duplication Analysis
CFH Whole Gene Sequencing

CFHR1

CFHR1 Deletion and Duplication Analysis
CFHR1 Whole Gene Sequencing

CFL2

CFL2 Deletion and Duplication Analysis
CFL2 Whole Gene Sequencing
Nemaline Congenital Myopathy Deletion and Duplication Panel
Nemaline Congenital Myopathy NGS Panel

CHD7

CHD7 Deletion and Duplication Analysis
CHD7 Whole Gene Sequencing
Kallmann Syndrome Deletion and Duplication Panel
Kallmann Syndrome NGS Panel

CLCN1

CLCN1 Deletion and Duplication Analysis
CLCN1 Whole Gene Sequencing

CLCN5

CLCN5 Deletion and Duplication Analysis
CLCN5 Whole Gene Sequencing

CLCN7

CLCN7 Deletion and Duplication Analysis
CLCN7 Whole Gene Sequencing
Osteopetrosis Deletion and Duplication Panel
Osteopetrosis NGS Panel
Osteopetrosis, Autosomal Dominant Deletion and Duplication Panel
Osteopetrosis, Autosomal Dominant NGS Panel

CLCNKB

CLCNKB Deletion and Duplication Analysis
CLCNKB Whole Gene Sequencing
Gitelman Syndrome Deletion and Duplication Panel
Gitelman Syndrome NGS Panel

CNTNAP2

CNTNAP2 Deletion and Duplication Analysis
CNTNAP2 Whole Gene Sequencing
Cortical Dysplasia-Focal Epilepsy Syndrome (CNTNAP2) Targeted Testing

COL17A1

COL17A1 Deletion and Duplication Analysis
COL17A1 Whole Gene Sequencing

COL1A1

COL1A1 Deletion and Duplication Analysis
COL1A1 Whole Gene Sequencing

COL1A2

COL1A2 Deletion and Duplication Analysis
COL1A2 Whole Gene Sequencing

COL4A3

COL4A3 Deletion and Duplication Analysis
COL4A3 Whole Gene Sequencing

COL4A4

COL4A4 Deletion and Duplication Analysis
COL4A4 Whole Gene Sequencing

COL4A5

COL4A5 Deletion and Duplication Analysis
COL4A5 Whole Gene Sequencing

COL5A1

COL5A1 Deletion and Duplication Analysis
COL5A1 Whole Gene Sequencing

COL7A1

COL7A1 Deletion and Duplication Analysis
COL7A1 Whole Gene Sequencing

CP

CP Deletion and Duplication Analysis
CP Whole Gene Sequencing
Neurodegeneration with Brain Iron Accumulation Deletion and Duplication Panel
Neurodegeneration with Brain Iron Accumulation NGS Panel

CREBBP

CREBBP Deletion and Duplication Analysis
CREBBP Whole Gene Sequencing

CRYAA

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

CRYAB

Congenital Cataract Deletion and Duplication Panel
Congenital Cataract NGS Panel
CRYAB Deletion and Duplication Analysis
CRYAB Whole Gene Sequencing
Restrictive Cardiomyopathy Deletion and Duplication Panel
Restrictive Cardiomyopathy NGS Panel

CRYBB1

Congenital Cataract Deletion and Duplication Panel
Congenital Cataract NGS Panel
CRYBB1 Deletion and Duplication Analysis
CRYBB1 Whole Gene Sequencing

CRYBB3

Congenital Cataract Deletion and Duplication Panel
Congenital Cataract NGS Panel
CRYBB3 Deletion and Duplication Analysis
CRYBB3 Whole Gene Sequencing

CSF3R

CSF3R Deletion and Duplication Analysis
CSF3R Whole Gene Sequencing
Severe Congenital Neutropenia, Nonsyndromic Deletion and Duplication Panel
Severe Congenital Neutropenia, Nonsyndromic NGS Panel

CSRP3

CSRP3 Deletion and Duplication Analysis
CSRP3 Whole Gene Sequencing
Hypertrophic Cardiomyopathy Deletion and Duplication Panel
Hypertrophic Cardiomyopathy NGS Panel

CTDP1

Congenital Cataract Deletion and Duplication Panel
Congenital Cataract NGS Panel
CTDP1 Deletion and Duplication Analysis
CTDP1 Whole Gene Sequencing

CTNNA3

Arrhythmogenic Right Ventricular Cardiomyopathy Deletion and Duplication Panel
Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel
CTNNA3 Deletion and Duplication Analysis
CTNNA3 Whole Gene Sequencing

CTNS

CTNS Deletion and Duplication Analysis
CTNS Whole Gene Sequencing

CUL3

CUL3 Deletion and Duplication Analysis
CUL3 Whole Gene Sequencing
Pseudohypoaldosteronism Type II Deletion and Duplication Panel
Pseudohypoaldosteronism Type II NGS Panel

CYBA

Chronic Granulomatous Disease Deletion and Duplication Panel
Chronic Granulomatous Disease NGS Panel
CYBA Deletion and Duplication Analysis
CYBA Whole Gene Sequencing

CYBB

Chronic Granulomatous Disease Deletion and Duplication Panel
Chronic Granulomatous Disease NGS Panel
CYBB Deletion and Duplication Analysis
CYBB Whole Gene Sequencing

CYP11B1

Congenital Adrenal Hyperplasia Deletion and Duplication Panel
Congenital Adrenal Hyperplasia NGS Panel
CYP11B1 Deletion and Duplication Analysis
CYP11B1 Whole Gene Sequencing

CYP1B1

CYP1B1 Deletion and Duplication Analysis
CYP1B1 Whole Gene Sequencing

CYP21A2

Congenital Adrenal Hyperplasia Deletion and Duplication Panel
Congenital Adrenal Hyperplasia NGS Panel
CYP21A2 Deletion and Duplication Analysis
CYP21A2 Whole Gene Sequencing

CYP27A1

CYP27A1 Deletion and Duplication Analysis
CYP27A1 Whole Gene Sequencing

CYP7B1

Bile Acid Synthesis Defect Deletion and Duplication Panel
Bile Acid Synthesis Defect NGS Panel
CYP7B1 Deletion and Duplication Analysis
CYP7B1 Whole Gene Sequencing
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