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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

SALL1

SALL1 Deletion and Duplication Analysis
SALL1 Whole Gene Sequencing

SALL4

SALL4 Deletion and Duplication Analysis
SALL4 Whole Gene Sequencing

SAMHD1

Aicardi-Goutieres Syndrome Type 5 (SAMHD1) Targeted Testing
Aicardi-Goutieres Syndromes Deletion and Duplication Panel
Aicardi-Goutieres Syndromes NGS Panel
SAMHD1 Deletion and Duplication Analysis
SAMHD1 Whole Gene Sequencing

SBDS

SBDS Deletion and Duplication Analysis
SBDS Whole Gene Sequencing

SCN1A

SCN1A Deletion and Duplication Analysis
SCN1A Whole Gene Sequencing

SCN1B

Brugada Syndrome Deletion and Duplication Panel
Brugada Syndrome NGS Panel
SCN1B Deletion and Duplication Analysis
SCN1B Whole Gene Sequencing

SCN2A

SCN2A Deletion and Duplication Analysis
SCN2A Whole Gene Sequencing

SCN2B

Brugada Syndrome Deletion and Duplication Panel
Brugada Syndrome NGS Panel
SCN2B Deletion and Duplication Analysis
SCN2B Whole Gene Sequencing

SCN3B

Brugada Syndrome Deletion and Duplication Panel
Brugada Syndrome NGS Panel
SCN3B Deletion and Duplication Analysis
SCN3B Whole Gene Sequencing

SCN4B

Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel
SCN4B Deletion and Duplication Analysis
SCN4B Whole Gene Sequencing

SCN5A

Brugada Syndrome Deletion and Duplication Panel
Brugada Syndrome NGS Panel
Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel
SCN5A Deletion and Duplication Analysis
SCN5A Whole Gene Sequencing

SCN9A

SCN9A Deletion and Duplication Analysis
SCN9A Whole Gene Sequencing

SDHB

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

SDHD

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

SETD2

Overgrowth and Intellectual Disability Deletion and Duplication Panel
Overgrowth and Intellectual Disability NGS Panel
SETD2 Deletion and Duplication Analysis
SETD2 Whole Gene Sequencing

SETX

SETX Deletion and Duplication Analysis
SETX Whole Gene Sequencing

SH2D1A

SH2D1A Deletion and Duplication Analysis
SH2D1A Whole Gene Sequencing

SHOC2

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
SHOC2 Deletion and Duplication Analysis
SHOC2 Whole Gene Sequencing

SIL1

Congenital Cataract Deletion and Duplication Panel
Congenital Cataract NGS Panel
SIL1 Deletion and Duplication Analysis
SIL1 Whole Gene Sequencing

SKI

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

SLC12A1

SLC12A1 Deletion and Duplication Analysis
SLC12A1 Whole Gene Sequencing

SLC12A3

Gitelman Syndrome Deletion and Duplication Panel
Gitelman Syndrome NGS Panel
SLC12A3 Deletion and Duplication Analysis
SLC12A3 Whole Gene Sequencing

SLC16A1

Familial Hyperinsulinism Deletion and Duplication Panel
Familial Hyperinsulinism NGS Panel
Monogenic Diabetes Deletion and Duplication Panel
Monogenic Diabetes NGS Panel
SLC16A1 Deletion and Duplication Analysis
SLC16A1 Whole Gene Sequencing

SLC25A13

SLC25A13 Deletion and Duplication Analysis
SLC25A13 Whole Gene Sequencing

SLC26A4

SLC26A4 Deletion and Duplication Analysis
SLC26A4 Whole Gene Sequencing

SLC29A3

SLC29A3 Deletion and Duplication Analysis
SLC29A3 Whole Gene Sequencing

SLC2A1

SLC2A1 Deletion and Duplication Analysis
SLC2A1 Whole Gene Sequencing

SLC2A2

Monogenic Diabetes Deletion and Duplication Panel
Monogenic Diabetes NGS Panel
SLC2A2 Deletion and Duplication Analysis
SLC2A2 Whole Gene Sequencing

SLC40A1

Hemochromatosis Deletion and Duplication Panel
Hemochromatosis NGS Panel
SLC40A1 Deletion and Duplication Analysis
SLC40A1 Whole Gene Sequencing

SLC4A1

Hereditary Spherocytosis Deletion and Duplication Panel
Hereditary Spherocytosis NGS Panel
Hereditary Spherocytosis type 4 (SLC4A1) Targeted Testing
Hereditary Spherocytosis, Autosomal Dominant Deletion and Duplication Panel
Hereditary Spherocytosis, Autosomal Dominant NGS Panel
SLC4A1 Deletion and Duplication Analysis
SLC4A1 Whole Gene Sequencing

SLC5A1

Glucose-Galactose Malabsorption (SLC5A1) Targeted Testing
SLC5A1 Deletion and Duplication Analysis
SLC5A1 Whole Gene Sequencing

SLC6A5

Hyperekplexia Deletion and Duplication Panel
Hyperekplexia NGS Panel
SLC6A5 Deletion and Duplication Analysis
SLC6A5 Whole Gene Sequencing

SLC6A8

Creatine Deficiency Deletion and Duplication Panel
Creatine Deficiency NGS Panel
SLC6A8 Deletion and Duplication Analysis
SLC6A8 Whole Gene Sequencing

SLC7A7

SLC7A7 Deletion and Duplication Analysis
SLC7A7 Whole Gene Sequencing

SLITRK6

Deafness and Myopia (SLITRK6) Targeted Testing

SMAD3

Familial Thoracic Aortic Aneurysms Deletion and Duplication Panel
Familial Thoracic Aortic Aneurysms NGS Panel
Loeys Dietz Syndrome Deletion and Duplication Panel
Loeys Dietz Syndrome NGS Panel
SMAD3 Deletion and Duplication Analysis
SMAD3 Whole Gene Sequencing

SMAD6

Familial Thoracic Aortic Aneurysms Deletion and Duplication Panel
Familial Thoracic Aortic Aneurysms NGS Panel
SMAD6 Deletion and Duplication Analysis
SMAD6 Whole Gene Sequencing

SMC1A

Cornelia de Lange Deletion and Duplication Analysis Panel
Cornelia de Lange NGS Panel
SMC1A Deletion and Duplication Analysis
SMC1A Whole Gene Sequencing

SMC3

Cornelia de Lange Deletion and Duplication Analysis Panel
Cornelia de Lange NGS Panel
SMC3 Deletion and Duplication Analysis
SMC3 Whole Gene Sequencing

SNCA

Parkinson Disease, Early Onset Deletion and Duplication Panel
Parkinson Disease, Early Onset NGS Panel
SNCA Deletion and Duplication Analysis
SNCA Whole Gene Sequencing

SNIP1

SNIP1 Deletion and Duplication Analysis
SNIP1 Whole Gene Sequencing
Symptomatic Epilepsy and Skull Dysplasia (SNIP1) Targeted Testing

SNTA1

Long QT Syndrome Deletion and Duplication Panel
Long QT Syndrome NGS Panel
SNTA1 Deletion and Duplication Analysis
SNTA1 Whole Gene Sequencing

SNX10

Osteopetrosis Deletion and Duplication Panel
Osteopetrosis NGS Panel
SNX10 Deletion and Duplication Analysis
SNX10 Whole Gene Sequencing

SOS1

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
SOS1 Deletion and Duplication Analysis
SOS1 Whole Gene Sequencing

SOX2

SOX2 Deletion and Duplication Analysis
SOX2 Whole Gene Sequencing

SOX9

SOX9 Deletion and Duplication Analysis
SOX9 Whole Gene Sequencing

SPAST

SPAST Deletion and Duplication Analysis
SPAST Whole Gene Sequencing

SPG20

SPG20 Deletion and Duplication Analysis
SPG20 Whole Gene Sequencing
Troyer Syndrome (SPG20) Targeted Testing

SPG7

SPG7 Deletion and Duplication Analysis
SPG7 Whole Gene Sequencing

SPRED1

Neurofibromatosis Deletion and Duplication Panel
Neurofibromatosis NGS Panel
SPRED1 Deletion and Duplication Analysis
SPRED1 Whole Gene Sequencing

SPTA1

Hereditary Spherocytosis Deletion and Duplication Panel
Hereditary Spherocytosis NGS Panel
SPTA1 Deletion and Duplication Analysis
SPTA1 Whole Gene Sequencing

SPTB

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

ST3GAL5

GM3 Synthase Deficiency (ST3GAL5) Targeted Testing
ST3GAL5 Deletion and Duplication Analysis
ST3GAL5 Whole Gene Sequencing

STXBP1

STXBP1 Deletion and Duplication Analysis
STXBP1 Whole Gene Sequencing
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