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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

PAFAH1B1

PAFAH1B1 Deletion and Duplication Analysis
PAFAH1B1 Whole Gene Sequencing

PAH

PAH Deletion and Duplication Analysis
PAH Whole Gene Sequencing
Phenylketonuria (PAH) Targeted Testing

PANK2

Neurodegeneration with Brain Iron Accumulation (PANK2) Targeted Testing
Neurodegeneration with Brain Iron Accumulation Deletion and Duplication Panel
Neurodegeneration with Brain Iron Accumulation NGS Panel
PANK2 Deletion and Duplication Analysis
PANK2 Whole Gene Sequencing

PARK2

PARK2 Deletion and Duplication Analysis
PARK2 Whole Gene Sequencing
Parkinson Disease, Early Onset Deletion and Duplication Panel
Parkinson Disease, Early Onset NGS Panel

PARK7

PARK7 Deletion and Duplication Analysis
PARK7 Whole Gene Sequencing
Parkinson Disease, Early Onset Deletion and Duplication Panel
Parkinson Disease, Early Onset NGS Panel

PAX3

PAX3 Deletion and Duplication Analysis
PAX3 Whole Gene Sequencing

PAX4

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
PAX4 Deletion and Duplication Analysis
PAX4 Whole Gene Sequencing

PAX8

Congenital Hypothyroidism, Nongoitrous Deletion and Duplication Panel
Congenital Hypothyroidism, Nongoitrous NGS Panel
PAX8 Deletion and Duplication Analysis
PAX8 Whole Gene Sequencing

PCCA

PCCA Deletion and Duplication Analysis
PCCA Whole Gene Sequencing

PCCB

PCCB Deletion and Duplication Analysis
PCCB Whole Gene Sequencing
Propionic Acidemia (PCCB) Targeted Testing

PCDH15

PCDH15 Deletion and Duplication Analysis
PCDH15 Whole Gene Sequencing

PCNT

Microcephalic Osteodysplastic Primordial Dwarfism Deletion and Duplication Panel
Microcephalic Osteodysplastic Primordial Dwarfism NGS Panel
PCNT Deletion and Duplication Analysis
PCNT Whole Gene Sequencing

PCSK1

Early Onset Obesity Deletion and Duplication Panel
Early Onset Obesity NGS Panel
PCSK1 Deletion and Duplication Analysis
PCSK1 Whole Gene Sequencing

PCSK9

Familial Hypercholesterolemia Deletion and Duplication Panel
Familial Hypercholesterolemia NGS Panel
Familial Hypercholesterolemia, Autosomal Dominant Deletion and Duplication Panel
Familial Hypercholesterolemia, Autosomal Dominant NGS Panel
PCSK9 Deletion and Duplication Analysis
PCSK9 Whole Gene Sequencing

PDCD10

PDCD10 Deletion and Duplication Analysis
PDCD10 Whole Gene Sequencing

PDX1

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
PDX1 Deletion and Duplication Analysis
PDX1 Whole Gene Sequencing

PEPD

PEPD Deletion and Duplication Analysis
PEPD Whole Gene Sequencing
Prolidase Deficiency (PEPD) Targeted Testing

PEX1

PEX1 Deletion and Duplication Analysis
PEX1 Whole Gene Sequencing

PHEX

PHEX Deletion and Duplication Analysis
PHEX Whole Gene Sequencing

PHKA2

PHKA2 Deletion and Duplication Analysis
PHKA2 Whole Gene Sequencing

PHKB

PHKB Deletion and Duplication Analysis
PHKB Whole Gene Sequencing

PIK3CA

Cowden Syndrome Deletion and Duplication Panel
Cowden Syndrome NGS Panel
PIK3CA Deletion and Duplication Analysis
PIK3CA Whole Gene Sequencing

PINK1

Parkinson Disease, Early Onset Deletion and Duplication Panel
Parkinson Disease, Early Onset NGS Panel
PINK1 Deletion and Duplication Analysis
PINK1 Whole Gene Sequencing

PKD1

PKD1 Deletion and Duplication Analysis
PKD1 Whole Gene Sequencing

PKD2

PKD2 Deletion and Duplication Analysis
PKD2 Whole Gene Sequencing

PKHD1

PKHD1 Deletion and Duplication Analysis
PKHD1 Whole Gene Sequencing

PKLR

PKLR Deletion and Duplication Analysis
PKLR Whole Gene Sequencing
Pyruvate Kinase Deficiency (PKLR) Targeted Testing

PKP2

Arrhythmogenic Right Ventricular Cardiomyopathy Deletion and Duplication Panel
Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel
PKP2 Deletion and Duplication Analysis
PKP2 Whole Gene Sequencing

PLA2G6

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
PLA2G6 Deletion and Duplication Analysis
PLA2G6 Whole Gene Sequencing

PLEKHM1

Osteopetrosis Deletion and Duplication Panel
Osteopetrosis NGS Panel
PLEKHM1 Deletion and Duplication Analysis
PLEKHM1 Whole Gene Sequencing

PLN

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

PLOD1

Overgrowth and Intellectual Disability Deletion and Duplication Panel
Overgrowth and Intellectual Disability NGS Panel
PLOD1 Deletion and Duplication Analysis
PLOD1 Whole Gene Sequencing

PLP1

PLP1 Deletion and Duplication Analysis
PLP1 Whole Gene Sequencing

PMP22

PMP22 Deletion and Duplication Analysis
PMP22 Whole Gene Sequencing

PNPO

PNPO Deletion and Duplication Analysis
PNPO Whole Gene Sequencing

POLG

POLG Deletion and Duplication Analysis
POLG Whole Gene Sequencing

POLR3B

POLR3B Deletion and Duplication Analysis
POLR3B Whole Gene Sequencing

POMC

Early Onset Obesity Deletion and Duplication Panel
Early Onset Obesity NGS Panel
POMC Deletion and Duplication Analysis
POMC Whole Gene Sequencing

POR

POR Deletion and Duplication Analysis
POR Whole Gene Sequencing

PORCN

PORCN Deletion and Duplication Analysis
PORCN Whole Gene Sequencing

POU1F1

Combined Pituitary Hormone Deficiency Deletion and Duplication Panel
Combined Pituitary Hormone Deficiency NGS Panel
Isolated Growth Hormone Deficiency Deletion and Duplication Panel
Isolated Growth Hormone Deficiency NGS Panel
POU1F1 Deletion and Duplication Analysis
POU1F1 Whole Gene Sequencing
Short Stature, Autosomal Recessive Deletion and Duplication Panel
Short Stature, Autosomal Recessive NGS Panel

PPARG

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

PRKAG2

Hypertrophic Cardiomyopathy Deletion and Duplication Panel
Hypertrophic Cardiomyopathy NGS Panel
PRKAG2 Deletion and Duplication Analysis
PRKAG2 Whole Gene Sequencing

PRKAR1A

PRKAR1A Deletion and Duplication Analysis
PRKAR1A Whole Gene Sequencing

PROK2

Kallmann Syndrome Deletion and Duplication Panel
Kallmann Syndrome NGS Panel
PROK2 Deletion and Duplication Analysis
PROK2 Whole Gene Sequencing

PROKR2

Kallmann Syndrome Deletion and Duplication Panel
Kallmann Syndrome NGS Panel
PROKR2 Deletion and Duplication Analysis
PROKR2 Whole Gene Sequencing

PROP1

Combined Pituitary Hormone Deficiency Deletion and Duplication Panel
Combined Pituitary Hormone Deficiency NGS Panel
Isolated Growth Hormone Deficiency Deletion and Duplication Panel
Isolated Growth Hormone Deficiency NGS Panel
PROP1 Deletion and Duplication Analysis
PROP1 Whole Gene Sequencing
Short Stature, Autosomal Recessive Deletion and Duplication Panel
Short Stature, Autosomal Recessive NGS Panel

PRRT2

PRRT2 Deletion and Duplication Analysis
PRRT2 Whole Gene Sequencing

PRSS1

PRSS1 Deletion and Duplication Analysis
PRSS1 Whole Gene Sequencing

PSTPIP1

Periodic Fever Deletion and Duplication Panel
Periodic Fever NGS Panel
PSTPIP1 Deletion and Duplication Analysis
PSTPIP1 Whole Gene Sequencing

PTCH1

Overgrowth and Intellectual Disability Deletion and Duplication Panel
Overgrowth and Intellectual Disability NGS Panel
PTCH1 Deletion and Duplication Analysis
PTCH1 Whole Gene Sequencing

PTEN

Cowden Syndrome Deletion and Duplication Panel
Cowden Syndrome NGS Panel
Overgrowth and Intellectual Disability Deletion and Duplication Panel
Overgrowth and Intellectual Disability NGS Panel
PTEN Deletion and Duplication Analysis
PTEN Whole Gene Sequencing

PTPN11

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
PTPN11 Deletion and Duplication Analysis
PTPN11 Whole Gene Sequencing

PYGM

PYGM Deletion and Duplication Analysis
PYGM Whole Gene Sequencing
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