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Brain Malformations

Comprehensive Brain Malformation Panel
Goldberg Schprintzen Megacolon Syndrome Testing (KIAA1279)
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Testing (SLC12A6)
Holoprosencephaly Panel
Hydrocephalus Panel
Macrocephaly Panel
Microcephaly Panel
Single Gene Analysis

Cardiology

Aortopathy Comprehensive Panel
Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Arrhythmogenic Cardiomyopathy Panel
Brugada Syndrome Panel
Cardiomyopathy Comprehensive Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
CHARGE Syndrome Testing (CHD7)
Congenital Heart Disease Panel
Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel
Ehlers-Danlos Syndrome Panel
Hereditary Transthyretin-mediated amyloidosis (hATTR amyloidosis) Mutation Analysis
Hypertrophic Cardiomyopathy Panel
Loeys-Dietz Syndrome Panel
Long QT Syndrome Panel
Marfan Syndrome Mutation Analysis (FBN1 Mutation Analysis)
Noonan Syndrome Panel
Pulmonary Arterial Hypertension Panel
RASopathies and Noonan Spectrum Disorders Panel
Short QT Syndrome Panel

Congenital Malformations

Albinism Panel
Aniridia Testing (PAX6)
Bardet-Biedl Syndrome Panel
CHARGE Syndrome Testing (CHD7)
CHILD Syndrome Testing (NSDHL)
CHIME Syndrome Testing (PIGL)
Coffin Siris Syndrome Panel
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Cornelia de Lange and Related Disorders Panel
Craniofacial Panel
Currarino Syndrome Testing (MNX1)
Distal Arthrogryposes Panel
Donnai-Barrow Syndrome Testing (LRP2)
Facial Dysostosis Panel
Goldberg Schprintzen Megacolon Syndrome Testing (KIAA1279)
IMAGe Syndrome/Beckwith-Wiedemann Syndrome Testing (CDKN1C)
Joubert/Meckel Gruber Syndrome Panel
Kabuki Syndrome Panel
Macrocephaly Panel
Meckel-Gruber Syndrome Panel
Microcephaly Panel
Nephronophthisis Panel
Oculodentodigital Dysplasia Testing (GJA1)
Oral-facial-digital Syndrome Testing (OFD1)
Primordial Dwarfism Panel
Rhizomelic Chondrodysplasia Punctata Panel
Robert Syndrome Testing (ESCO2)
Robinow Syndrome Panel
Rubinstein-Taybi Syndrome Panel
Schinzel-Giedion Syndrome Testing (SETBP1)
SHORT Syndrome Testing (PIK3R1)
Single Gene Analysis
Temple-Baraitser Syndrome Testing (KCNH1)
UPD14 testing
UPD7 testing
Wiedemann-Steiner Syndrome Testing (KMT2A (MLL))

Endocrinology

46,XX Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
46,XY Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
6q24 Methylation-Specific MLPA
Ambiguous Genitalia Panel
Aniridia Testing (PAX6)
Bardet-Biedl Syndrome Panel
Comprehensive Neonatal Diabetes Mutation Analysis
Dyslipidemia Panel
Hereditary Hemorrhagic Telangiectasia (HHT) Panel
Hypercholesterolemia Panel
Hyperinsulinism Panel
Hyperparathyroidism Panel
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Hypoparathyroidism Panel
Hypophosphatemic Rickets Panel
Hypothyroidism Panel
Lipodystrophy Panel
MODY Panel
MODY2 Testing (GCK)
Monogenic Diabetes Panel
Monogenic Obesity Panel
Neonatal Diabetes Panel
Non-Syndromic Monogenic Obesity Panel
Pancreatic Agenesis panel
Single Gene Analysis
Thiamine Responsive Megaloblastic Anemia (TRMA) Testing (SLC19A2)
Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism
Tier 1: Thyroid Testing Only (Allan-Herndon-Dudley syndrome)
Tier 2: SLC16A2 (MCT8) Mutation Analysis (Allan-Herndon-Dudley syndrome)
Type A Insulin Resistant Diabetes with Acanthosis Nigricans Testing (INSR)
UPD6 testing
Wolfram Syndrome Panel

Epilepsy

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Glucose Transporter Type 1 Deficiency Testing (SLC2A1)
Neuronal Ceroid-Lipofuscinoses Panel
Rett/Angelman Syndrome Panel
Single Gene Analysis
UPD15 testing

Exome

Ataxia Exome
Comprehensive Ataxia Testing (Reflex testing option)
Dystonia Chorea Parkinson Exome
Epilepsy Exome
Exome Select
Exome Sequencing (Proband Only)
Exome Sequencing (Trio)
Hereditary Spastic Paraplegia Exome
Intellectual Disability Exome
Neuromuscular Disorders Exome
STAT Exome Sequencing (Proband Only)
STAT Exome Sequencing (Trio)

Gastroenterology

Digestive Disease Panel
Liver Disease Panel

Hereditary Cancer

Cell Culture Service (Skin Fibroblasts)
Comprehensive Hereditary Cancer Panel
Diamond Blackfan Anemia Panel
Fanconi Anemia Panel
Hereditary Breast and Ovarian Cancer Panel
Hereditary Colorectal Cancer Panel
Hereditary Gastric Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Leukemia and Breast Cancer Panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Hereditary Melanoma Panel
Hereditary Myeloid Malignancy Panel
Hereditary Pheochromocytoma and Paraganglioma Panel
Hereditary Prostate Cancer Panel
Hereditary Thyroid Cancer Panel
Inherited Bone Marrow Failure Panel
Lynch Syndrome Panel
Mesothelioma Panel
Noonan Syndrome Panel
Primary Immunodeficiency Panel
Severe Congenital Neutropenia Panel
Single Gene Analysis
Telomere Biology Disorder/Dyskeratosis Congenita Panel
Thrombocytopenia Panel

Infertility

Female Infertility panel
Male Infertility Panel
Premature Ovarian Failure Panel

Movement Disorders

Ataxia Exome
Ataxia Repeat Expansion Panel
Comprehensive Ataxia Testing (Concurrent testing option)
Comprehensive Ataxia Testing (Reflex testing option)
Dystonia Chorea Parkinson Exome
Hereditary Spastic Paraplegia Exome
Single Gene Repeat Expansion Analysis

Nephrology

Atypical Hemolytic Uremic Syndromes Panel
Bardet-Biedl Syndrome Panel
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Hereditary Tubulopathy and Nephrolithiasis Panel
Hereditary Cystic and Glomerular Disorders Panel
Meckel-Gruber Syndrome Panel
Nephronophthisis Panel

Neurodevelopmental

2-Hydroxyglutaric Aciduria Panel
Autosomal Recessive Non-Specific Intellectual Disability Panel
Imprinting Center (IC) Deletion Analysis for Angelman syndrome
Imprinting Center (IC) Deletion Analysis for Prader-Willi syndrome
Intellectual Disability Exome
Macrocephaly Panel
MS-MLPA for Angelman syndrome
MS-MLPA for Prader-Willi syndrome
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Non-Specific Intellectual Disability Panel
Rett/Angelman Syndrome Panel
Single Gene Analysis
UPD15 testing
Warburg Micro Syndrome Panel
X-Linked Non-Specific Intellectual Disability Panel

Neuromuscular

Congenital Muscular Dystrophy Panel
Congenital Myasthenic Syndrome Panel
Congenital Myopathy Panel
Laminopathy Testing (LMNA)
Neuromuscular Disorders Exome
Neuromuscular Disorders Panel
Single Gene Analysis