Special Notice

Due to COVID-19, we are currently experiencing temporary interruptions in our supply chain. We may not be able to process your specimen at this time. Please call 440-632-5532 before ordering any test.

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DDC Clinic
Molecular Diagnostics Laboratory

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

Metabolic (Single Gene Tests)

Metabolic (Single Gene Tests)

List of available tests for this disease group.

TAZ Whole Gene Sequencing
TAZ Deletion and Duplication Analysis
TANGO2 Deletion and Duplication Analysis
SLC7A7 Whole Gene Sequencing
SLC7A7 Deletion and Duplication Analysis
SLC25A13 Whole Gene Sequencing
SLC25A13 Deletion and Duplication Analysis
POR Whole Gene Sequencing
POR Deletion and Duplication Analysis
PHKB Whole Gene Sequencing
PHKB Deletion and Duplication Analysis
PHKA2 Whole Gene Sequencing
PHKA2 Deletion and Duplication Analysis
PHEX Whole Gene Sequencing
PHEX Deletion and Duplication Analysis
PEX1 Whole Gene Sequencing
PEX1 Deletion and Duplication Analysis
PCCA Whole Gene Sequencing
PCCA Deletion and Duplication Analysis
OTC Whole Gene Sequencing
OTC Deletion and Duplication Analysis
OCRL Whole Gene Sequencing
OCRL Deletion and Duplication Analysis
NROB1 Whole Gene Sequencing
NROB1 Deletion and Duplication Analysis
LPL Whole Gene Sequencing
LPL Deletion and Duplication Analysis
IDS Whole Gene Sequencing
IDS Deletion and Duplication Analysis
GLA Whole Gene Sequencing
GLA Deletion and Duplication Analysis
GALNS Whole Gene Sequencing
GALNS Deletion and Duplication Analysis
GALC Whole Gene Sequencing
GALC Deletion and Duplication Analysis
GAA Whole Gene Sequencing
GAA Deletion and Duplication Analysis
FECH Whole Gene Sequencing
FECH Deletion and Duplication Analysis
CTNS Whole Gene Sequencing
CTNS Deletion and Duplication Analysis
CDC73 Whole Gene Sequencing
CDC73 Deletion and Duplication Analysis
CBS Whole Gene Sequencing
CBS Deletion and Duplication Analysis
ATP7A Whole Gene Sequencing
ATP7A Deletion and Duplication Analysis
AR Whole Gene Sequencing
AR Deletion and Duplication Analysis
AP3B1 Whole Gene Sequencing
AP3B1 Deletion and Duplication Analysis
ALDOB Whole Gene Sequencing
ALDOB Deletion and Duplication Analysis
AGXT Whole Gene Sequencing
AGXT Deletion and Duplication Analysis
ABCD1 Whole Gene Sequencing
ABCD1 Deletion and Duplication Analysis
ASAH1 Deletion and Duplication Analysis
ASAH1 Whole Gene Sequencing
PYGM Deletion and Duplication Analysis
PYGM Whole Gene Sequencing
SLC2A1 Deletion and Duplication Analysis
SLC2A1 Whole Gene Sequencing
PNPO Deletion and Duplication Analysis
PNPO Whole Gene Sequencing
CYP27A1 Deletion and Duplication Analysis
CYP27A1 Whole Gene Sequencing
EPHX1 Deletion and Duplication Analysis
EPHX1 Whole Gene Sequencing
VPS33B Deletion and Duplication Analysis
VPS33B Whole Gene Sequencing
VIPAS39 Deletion and Duplication Analysis
VIPAS39 Whole Gene Sequencing
MYO5B Deletion and Duplication Analysis
MYO5B Whole Gene Sequencing
ABCD3 Deletion and Duplication Analysis
ABCD3 Whole Gene Sequencing
AMACR Deletion and Duplication Analysis
AMACR Whole Gene Sequencing
CYP7B1 Deletion and Duplication Analysis
CYP7B1 Whole Gene Sequencing
AKR1D1 Deletion and Duplication Analysis
AKR1D1 Whole Gene Sequencing
HSD3B7 Deletion and Duplication Analysis
HSD3B7 Whole Gene Sequencing
ABCC2 Deletion and Duplication Analysis
ABCC2 Whole Gene Sequencing
BAAT Deletion and Duplication Analysis
BAAT Whole Gene Sequencing
NR1H4 Deletion and Duplication Analysis
NR1H4 Whole Gene Sequencing
JAG1 Deletion and Duplication Analysis
JAG1 Whole Gene Sequencing
TJP2 Deletion and Duplication Analysis
TJP2 Whole Gene Sequencing
ABCB11 Deletion and Duplication Analysis
ABCB11 Whole Gene Sequencing
ABCB4 Deletion and Duplication Analysis
ABCB4 Whole Gene Sequencing
GAMT Deletion and Duplication Analysis
GAMT Whole Gene Sequencing
ATP7B Deletion and Duplication Analysis
ATP7B 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
TAT Deletion and Duplication Analysis
TAT Whole Gene Sequencing
FAH Deletion and Duplication Analysis
FAH Whole Gene Sequencing
ABCG8 Deletion and Duplication Analysis
ABCG8 Whole Gene Sequencing
ABCG5 Deletion and Duplication Analysis
ABCG5 Whole Gene Sequencing
DBT Deletion and Duplication Analysis
DBT Whole Gene Sequencing
BCKDHB Deletion and Duplication Analysis
BCKDHB Whole Gene Sequencing
BCKDHA Deletion and Duplication Analysis
BCKDHA Whole Gene Sequencing
DLD Deletion and Duplication Analysis
DLD Whole Gene Sequencing
GATM Deletion and Duplication Analysis
GATM Whole Gene Sequencing
SLC6A8 Deletion and Duplication Analysis
SLC6A8 Whole Gene Sequencing
ATP8B1 Deletion and Duplication Analysis
ATP8B1 Whole Gene Sequencing
PKLR Deletion and Duplication Analysis
PKLR Whole Gene Sequencing
PCCB Deletion and Duplication Analysis
PCCB Whole Gene Sequencing
PAH Deletion and Duplication Analysis
PAH Whole Gene Sequencing
G6PC Deletion and Duplication Analysis
G6PC Whole Gene Sequencing
MCCC2 Deletion and Duplication Analysis
MCCC2 Whole Gene Sequencing
MCCC1 Deletion and Duplication Analysis
MCCC1 Whole Gene Sequencing
PEPD Deletion and Duplication Analysis
PEPD Whole Gene Sequencing
BTD Deletion and Duplication Analysis
BTD Whole Gene Sequencing
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