Special Notice

Our website is undergoing changes and some listed testing may not be available any longer. Except for Amish targeted testing and GAP testing, please call prior to ordering to be sure a test is available.

DDC Clinic
Molecular Diagnostics Laboratory

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

Old Order Amish Targeted Mutation Analysis

Old Order Amish Targeted Mutation Analysis

List of available tests for this disease group.

Dilated Cardiomyopathy and Woolly Hair Syndrome and Arrhythmogenic Right Ventricular Cardiomyopathy (DSP) Targeted Testing

Amish Heart Disease Risk Panel

Amish Genetic Disease Panel (GAP)

GM2 Synthase Deficiency (B4GALNT1) Targeted Testing

Familial Migraine and Epilepsy (CACNA1A) Targeted Testing

Deafness and Myopia (SLITRK6) Targeted Testing

Troyer Syndrome (SPG20) Targeted Testing

TMCO1 Defect Syndrome Targeted Testing

Spastic Ataxia 4 (MTPAP) Targeted Testing

Pyruvate Kinase Deficiency (PKLR) Targeted Testing

Propionic Acidemia (PCCB) Targeted Testing

Phenylketonuria (PAH) Targeted Testing

Neurodegeneration with Brain Iron Accumulation (PANK2) Targeted Testing

Microcephalic Osteodysplastic Primordial Dwarfism (RNU4ATAC) Targeted Testing

KPTN Defect Syndrome Targeted Testing

Hereditary Spherocytosis type 4 (SLC4A1) Targeted Testing

HERC2 Defect Syndrome Targeted Testing

Hemophilia B (F9) Targeted Testing

GM3 Synthase Deficiency (ST3GAL5) Targeted Testing

Glycogen Storage Disease type 1a (G6PC) Targeted Testing

Glucose-Galactose Malabsorption (SLC5A1) Targeted Testing

Familial Hypertrophic Cardiomyopathy (MYBPC3) Targeted Testing

Factor V Leiden (F5) Targeted Testing

Dystonia 6, Torsion (THAP1) Targeted Testing

Crigler-Najjar Syndrome (UGT1A1) Targeted Testing

Cortical Dysplasia-Focal Epilepsy Syndrome (CNTNAP2) Targeted Testing

Cohen Syndrome (VPS13B) Targeted Testing

Charcot-Marie-Tooth Disease and Neuropathy (GDAP1) Targeted Testing

Byler Disease (ATP8B1) Targeted Testing

Autosomal Recessive Osteopetrosis (TCIRG1) Targeted Testing

Long QT Syndrome 1 (KCNQ1) Targeted Testing

Cartilage-Hair Hypoplasia (RMRP) Targeted Testing

Amish Nemaline Myopathy (TNNT1) Targeted Testing

Amish Brittle Hair Brain Syndrome (MPLKIP) Targeted Testing

Symptomatic Epilepsy and Skull Dysplasia (SNIP1) Targeted Testing

Aicardi-Goutieres Syndrome Type 5 (SAMHD1) Targeted Testing

Prolidase Deficiency (PEPD) Targeted Testing

McKusick-Kaufman Syndrome (MKKS) Targeted Testing

Cockayne Syndrome (ERCC6) Targeted Testing

Yoder Dystonia (WDR73) Targeted Testing

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