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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

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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