Test Count: 863

Disease Panels

A

Aarskog-Scott Syndrome (FGD1 Single Gene Test) (1 gene)

Abetalipoproteinemia (MTTP Single Gene Test) (1 gene)

Abnormal Mineralization NGS Panel (31 genes)

ACAD9 Deficiency (ACAD9 Single Gene Test) (1 gene)

Acatalasemia (CAT Single Gene Test) (1 gene)

Aceruloplasminemia (CP Single Gene Test) (1 gene)

Achondroplasia (FGFR3 Single Gene Test) (1 gene)

Achromatopsia NGS Panel (4 genes)

ACMG Secondary Findings (Medically Actionable Genes, Including Cardio and Cancer) NGS Panel (81 genes)

Acral Peeling Skin Syndrome (TGM5 Single Gene Test) (1 gene)

Action Myoclonus–Renal Failure Syndrome (SCARB2 Single Gene Test) (1 gene)

Actionable Epilepsy NGS Panel (25 genes)

Activated PI3K-Delta Syndrome (PIK3CD Single Gene Test) (1 gene)

Acute Necrotizing Encephalopathy Type 1 (RANBP2 Single Gene Test) (1 gene)

Adams-Oliver Syndrome NGS Panel (6 genes)

ADCY5-Related Dyskinesia (ADCY5 Single Gene Test) (1 gene)

Adenine Phosphoribosyltransferase Deficiency (APRT Single Gene Test) (1 gene)

Adenosine Deaminase 2 Deficiency (ADA2 Single Gene Test) (1 gene)

Adenosine Deaminase Deficiency (ADA Single Gene Test) (1 gene)

Adenosine Monophosphate Deaminase Deficiency (AMPD1 Single Gene Test) (1 gene)

Adenylosuccinate Lyase Deficiency (ADSL Single Gene Test) (1 gene)

Adermatoglyphia (SMARCAD1 Single Gene Test) (1 gene)

Adolescent/Adult Epilepsy NGS Panel (84 genes)

ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel (2 genes)

Adult Polyglucosan Body Disease (GBE1 Single Gene Test) (1 gene)

Afibrinogenemia NGS Panel (3 genes)

Agammaglobulinemia NGS Panel (10 genes)

Aicardi-Goutieres Syndrome NGS Panel (5 genes)

Alagille Syndrome NGS Panel (2 genes)

Albinism NGS Panel (29 genes)

Alexander Disease (GFAP Single Gene Test) (1 gene)

ALG1-congenital Disorder Of Glycosylation (ALG1 Single Gene Test) (1 gene)

ALG12-congenital Disorder Of Glycosylation (ALG12 Single Gene Test) (1 gene)

ALG6-congenital Disorder Of Glycosylation (ALG6 Single Gene Test) (1 gene)

Alkaptonuria (HGD Single Gene Test) (1 gene)

Allan-Herndon-Dudley Syndrome (SLC16A2 Single Gene Test) (1 gene)

Alpers-Huttenlocher Syndrome (POLG Single Gene Test) (1 gene)

Alpha Thalassemia NGS Panel (2 genes)

Alpha-1 Antitrypsin Deficiency (SERPINA1 Single Gene Test) (1 gene)

Alpha-mannosidosis (MAN2B1 Single Gene Test) (1 gene)

Alpha-methylacyl-CoA Racemase Deficiency (AMACR Single Gene Test) (1 gene)

Alport Syndrome NGS Panel (6 genes)

Alström Syndrome (ALMS1 Single Gene Test) (1 gene)

Alzheimer and Dementia NGS Panel (16 genes)

Amelogenesis Imperfecta NGS Panel (40 genes)

Aminoacylase 1 Deficiency (ACY1 Single Gene Test) (1 gene)

Amyotrophic Lateral Sclerosis NGS Panel (43 genes)

Andermann Syndrome (SLC12A6 Single Gene Test) (1 gene)

Aniridia (PAX6 Single Gene Test) (1 gene)

Ankyloblepharon-ectodermal Defects-Cleft Lip/palate Syndrome (TP63 Single Gene Test) (1 gene)

Apert Syndrome (FGFR2 Single Gene Test) (1 gene)

Arginase Deficiency (ARG1 Single Gene Test) (1 gene)

Arginine:Glycine Amidinotransferase Deficiency (GATM Single Gene Test) (1 gene)

Argininosuccinic Aciduria (ASL Single Gene Test) (1 gene)

Aromatase Deficiency (CYP19A1 Single Gene Test) (1 gene)

Aromatic L-Amino Acid Decarboxylase Deficiency (DDC Single Gene Test) (1 gene)

Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel (46 genes)

Arterial Tortuosity Syndrome (SLC2A10 Single Gene Test) (1 gene)

Arthrogryposis NGS Panel (60 genes)

Arts Syndrome (PRPS1 Single Gene Test) (1 gene)

Aspartylglucosaminuria (AGA Single Gene Test) (1 gene)

Asphyxiating Thoracic Dystrophy NGS Panel (3 genes)

Ataxia NGS Panel (153 genes)

Ataxia Repeat Expansion Analysis by NGS (14 genes)

Ataxia with Oculomotor Apraxia NGS Panel (4 genes)

Ataxia With Vitamin E Deficiency (TTPA Single Gene Test) (1 gene)

Atelosteogenesis Type 1 (FLNB Single Gene Test) (1 gene)

Atelosteogenesis Type 2 (SLC26A2 Single Gene Test) (1 gene)

Atelosteogenesis Type 3 (FLNB Single Gene Test) (1 gene)

Atrial Fibrillation NGS Panel (24 genes)

Autism NGS Panel (122 genes)

Autoimmune Polyendocrinopathy (AIRE Single Gene Test) (1 gene)

Autosomal Recessive Cerebellar Ataxia Type 1 (SYNE1 Single Gene Test) (1 gene)

Autosomal Recessive Hyper-IgE Syndrome (DOCK8 Single Gene Test) (1 gene)

Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (SACS Single Gene Test) (1 gene)

Axenfeld-Rieger NGS Panel (3 genes)

Axonal Neuropathy With Neuromyotonia (HINT1 Single Gene Test) (1 gene)

B

B-Negative Severe Combined Immunodeficiency NGS Panel (13 genes)

B-Positive Severe Combined Immunodeficiency NGS Panel (26 genes)

Baller-Gerold Syndrome (RECQL4 Single Gene Test) (1 gene)

Bannayan-Riley-Ruvalcaba Syndrome (PTEN Single Gene Test) (1 gene)

Bardet-Biedl Syndrome NGS Panel (16 genes)

Bart-Pumphrey Syndrome (GJB2 Single Gene Test) (1 gene)

Barth Syndrome (TAZ Single Gene Test) (1 gene)

Bartter Syndrome NGS Panel (29 genes)

Basal Ganglia Calcification NGS Panel (6 genes)

Beare-Stevenson Cutis Gyrata Syndrome (FGFR2 Single Gene Test) (1 gene)

Benign Chronic Pemphigus (ATP2C1 Single Gene Test) (1 gene)

Bernard-Soulier Syndrome NGS Panel (3 genes)

Beta-Ketothiolase Deficiency (ACAT1 Single Gene Test) (1 gene)

Beta-Mannosidosis (MANBA Single Gene Test) (1 gene)

Beta-Propeller Protein-Associated Neurodegeneration (WDR45 Single Gene Test) (1 gene)

Beta-Ureidopropionase Deficiency (UPB1 Single Gene Test) (1 gene)

Bietti Crystalline Dystrophy (CYP4V2 Single Gene Test) (1 gene)

Biotin-Thiamine-Responsive Basal Ganglia Disease (SLC19A3 Single Gene Test) (1 gene)

Biotinidase Deficiency (BTD Single Gene Test) (1 gene)

Birt-Hogg-Dubé Syndrome (FLCN Single Gene Test) (1 gene)

Björnstad Syndrome (BCS1L Single Gene Test) (1 gene)

Blau Syndrome (NOD2 Single Gene Test) (1 gene)

Bloom Syndrome (BLM Single Gene Test) (1 gene)

Bohring-Opitz Syndrome (ASXL1 Single Gene Test) (1 gene)

Bone Marrow Failure NGS Panel (61 genes)

Boomerang Dysplasia (FLNB Single Gene Test) (1 gene)

Boucher-Neuhäuser Syndrome (PNPLA6 Single Gene Test) (1 gene)

Bowen-Conradi Syndrome (EMG1 Single Gene Test) (1 gene)

Brain-Iron Accumulation NGS Panel (12 genes)

Brain-Lung-Thyroid Syndrome (NKX2-1 Single Gene Test) (1 gene)

Branchio-Oculo-Facial Syndrome (TFAP2A Single Gene Test) (1 gene)

Branchiootorenal Spectrum Disorders NGS Panel (3 genes)

Breast Cancer STAT NGS Panel (9 genes)

Brody Myopathy (ATP2A1 Single Gene Test) (1 gene)

Bronchiectasis NGS Panel (18 genes)

Brooke-Spiegler Syndrome (CYLD Single Gene Test) (1 gene)

Burn-McKeown Syndrome (TXNL4A Single Gene Test) (1 gene)

Buschke-Ollendorff Syndrome (LEMD3 Single Gene Test) (1 gene)

C

CADASIL (NOTCH3 Single Gene Test) (1 gene)

Caffey Disease (COL1A1 Single Gene Test) (1 gene)

Campomelic Dysplasia (SOX9 Single Gene Test) (1 gene)

Camurati-Engelmann Disease (TGFB1 Single Gene Test) (1 gene)

Canavan Disease (ASPA Single Gene Test) (1 gene)

Capillary Malformation-Arteriovenous Malformation Syndrome (RASA1 Single Gene Test) (1 gene)

CARASIL (HTRA1 Single Gene Test) (1 gene)

Carbamoyl Phosphate Synthetase I Deficiency (CPS1 Single Gene Test) (1 gene)

Carbonic Anhydrase VA Deficiency (CA5A Single Gene Test) (1 gene)

Cardio-Facio-Cutaneous Syndrome NGS Panel (6 genes)

Carney Complex (PRKAR1A Single Gene Test) (1 gene)

Carnitine Palmitoyltransferase I Deficiency (CPT1A Single Gene Test) (1 gene)

Carnitine Palmitoyltransferase II Deficiency (CPT2 Single Gene Test) (1 gene)

Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20 Single Gene Test) (1 gene)

Carpenter Syndrome NGS Panel (2 genes)

Cartilage-Hair Hypoplasia (RMRP Single Gene Test) (1 gene)

CASK-Related Intellectual Disability (CASK Single Gene Test) (1 gene)

Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel (9 genes)

Central Core Disease (RYR1 Single Gene Test) (1 gene)

Central Hypoventilation Syndrome NGS Panel (6 genes)

Cerebellar Hypoplasia NGS Panel (8 genes)

Cerebral Cavernous Malformations NGS Panel (3 genes)

Cerebral Cortical Malformation NGS Panel (42 genes)

Cerebral Folate Transport Deficiency (FOLR1 Single Gene Test) (1 gene)

Cerebrotendinous Xanthomatosis (CYP27A1 Single Gene Test) (1 gene)

Chanarin-Dorfman Syndrome (ABHD5 Single Gene Test) (1 gene)

Char Syndrome (TFAP2B Single Gene Test) (1 gene)

Charcot Marie Tooth Disease Extended NGS Panel (59 genes)

CHARGE Syndrome (CHD7 Single Gene Test) (1 gene)

CHD2 Myoclonic Encephalopathy (CHD2 Single Gene Test) (1 gene)

Chediak-Higashi Syndrome (LYST Single Gene Test) (1 gene)

Cherubism (SH3BP2 Single Gene Test) (1 gene)

Childhood Epilepsy NGS Panel (214 genes)

Childhood Myocerebrohepatopathy Spectrum (POLG Single Gene Test) (1 gene)

CHMP2B-related Frontotemporal Dementia (CHMP2B Single Gene Test) (1 gene)

Cholestasis NGS Panel (72 genes)

Chondrodysplasia Punctata NGS Panel (7 genes)

CHOPS Syndrome (AFF4 Single Gene Test) (1 gene)

Chorea-acanthocytosis (VPS13A Single Gene Test) (1 gene)

Choroideremia (CHM Single Gene Test) (1 gene)

Christianson Syndrome (SLC9A6 Single Gene Test) (1 gene)

Chromosomal Instability Syndromes NGS Panel (7 genes)

Chronic Atrial And Intestinal Dysrhythmia (SGO1 Single Gene Test) (1 gene)

Chronic Granulomatous Disease NGS Panel (7 genes)

Chronic Pancreatitis NGS Panel (5 genes)

Chylomicron Retention Disease (SAR1B Single Gene Test) (1 gene)

Ciliopathies NGS Panel (102 genes)

Cleft Palate/Lip NGS Panel (24 genes)

Clouston Syndrome NGS Panel (2 genes)

CLPB Deficiency (CLPB Single Gene Test) (1 gene)

Coagulation Deficiency NGS Panel (24 genes)

Coats Plus Syndrome (CTC1 Single Gene Test) (1 gene)

Cobalamin Homocysteine Methionine NGS Panel (39 genes)

Cockayne Syndrome NGS Panel (2 genes)

Coenzyme Q10 Deficiency NGS Panel (15 genes)

Coffin-Lowry Syndrome (RPS6KA3 Single Gene Test) (1 gene)

Coffin-Siris Syndrome NGS Panel (11 genes)

COG5-Congenital Disorder Of Glycosylation (COG5 Single Gene Test) (1 gene)

Cohen Syndrome (VPS13B Single Gene Test) (1 gene)

Cole Disease (ENPP1 Single Gene Test) (1 gene)

Combined Pituitary Hormone Deficiency NGS Panel (7 genes)

Complement Factor I Deficiency (CFI Single Gene Test) (1 gene)

Complete LCAT Deficiency (LCAT Single Gene Test) (1 gene)

Comprehensive Arrhythmia NGS Panel (77 genes)

Comprehensive Cardiomyopathy NGS Panel (129 genes)

Comprehensive Cardiovascular NGS Panel (264 genes)

Comprehensive Eye Disorders NGS Panel (464 genes)

Comprehensive Glaucoma NGS Panel (57 genes)

Comprehensive Glomerular Proteinuria NGS Panel (76 genes)

Comprehensive Hearing Loss NGS Panel (181 genes)

Comprehensive Metabolism NGS Panel (402 genes)

Comprehensive Oligodontia NGS Panel (46 genes)

Comprehensive Primary Immunodeficiency NGS Panel (471 genes)

Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel (82 genes)

Comprehensive Thrombotic Microangiopathy NGS Panel (39 genes)

Cone-Rod Dystrophy NGS Panel (29 genes)

Congenital Adrenal Hyperplasia NGS Panel (10 genes)

Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT) NGS Panel (88 genes)

Congenital Bilateral Absence Of The Vas Deferens (CFTR Single Gene Test) (1 gene)

Congenital Bile Acid Synthesis Defect Type 1 (HSD3B7 Single Gene Test) (1 gene)

Congenital Bile Acid Synthesis Defect Type 2 (AKR1D1 Single Gene Test) (1 gene)

Congenital Cataracts NGS Panel (56 genes)

Congenital Cataracts, Facial Dysmorphism, And Neuropathy (CTDP1 Single Gene Test) (1 gene)

Congenital Contractural Arachnodactyly (FBN2 Single Gene Test) (1 gene)

Congenital Deafness With Labyrinthine Aplasia, Microtia, And Microdontia (FGF3 Single Gene Test) (1 gene)

Congenital Diarrhea NGS Panel (46 genes)

Congenital Disorders of Glycosylation NGS Panel (40 genes)

Congenital Dyserythropoietic Anemia NGS Panel (12 genes)

Congenital Fiber Type Disproportion NGS Panel (5 genes)

Congenital Generalized Lipodystrophy Type 1/2 NGS Panel (2 genes)

Congenital Heart Defect NGS Panel (115 genes)

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects (NSDHL Single Gene Test) (1 gene)

Congenital Hepatic Fibrosis NGS Panel (34 genes)

Congenital Insensitivity To Pain (SCN9A Single Gene Test) (1 gene)

Congenital Insensitivity To Pain With Anhidrosis (NTRK1 Single Gene Test) (1 gene)

Congenital Leptin Deficiency (LEP Single Gene Test) (1 gene)

Congenital Methemoglobinemia (CYB5R3 Single Gene Test) (1 gene)

Congenital Myasthenic Syndrome NGS Panel (29 genes)

Congenital Myopathy NGS Panel (61 genes)

Congenital Plasminogen Deficiency (PLG Single Gene Test) (1 gene)

Congenital Sideroblastic Anemia NGS Panel (8 genes)

Congenital Stationary Night Blindness NGS Panel (17 genes)

Congenital Stromal Corneal Dystrophy (DCN Single Gene Test) (1 gene)

Congenital Sucrase-Isomaltase Deficiency (SI Single Gene Test) (1 gene)

Connective Tissue NGS Panel (63 genes)

Corneal Dystrophy NGS Panel (24 genes)

Cornelia De Lange Syndrome NGS Panel (5 genes)

Corticosteroid-Binding Globulin Deficiency (SERPINA6 Single Gene Test) (1 gene)

Corticosterone Methyloxidase Deficiency NGS Panel (2 genes)

Costeff Syndrome (OPA3 Single Gene Test) (1 gene)

Costello Syndrome (HRAS Single Gene Test) (1 gene)

Craniofacial-Deafness-Hand Syndrome (PAX3 Single Gene Test) (1 gene)

Craniometaphyseal Dysplasia (ANKH Single Gene Test) (1 gene)

Craniosynostosis NGS Panel (62 genes)

Crigler-Najjar Syndrome (UGT1A1 Single Gene Test) (1 gene)

Custom NGS Panel (By selection)

Cystic Fibrosis (CFTR Single Gene Test) (1 gene)

Cystic Lung Disease NGS Panel (8 genes)

Cystinosis (CTNS Single Gene Test) (1 gene)

Cystinuria NGS Panel (3 genes)

Cytochrome P450 Oxidoreductase Deficiency (POR Single Gene Test) (1 gene)

Czech Dysplasia (COL2A1 Single Gene Test) (1 gene)

D

Danon Disease (LAMP2 Single Gene Test) (1 gene)

Darier Disease (ATP2A2 Single Gene Test) (1 gene)

Deafness And Myopia Syndrome (SLITRK6 Single Gene Test) (1 gene)

Deafness-Dystonia-Optic Neuronopathy Syndrome (TIMM8A Single Gene Test) (1 gene)

Dejerine-Sottas Syndrome NGS Panel (5 genes)

Dentinogenesis Imperfecta (DSPP Single Gene Test) (1 gene)

Denys-Drash Syndrome (WT1 Single Gene Test) (1 gene)

Deoxyguanosine Kinase Deficiency (DGUOK Single Gene Test) (1 gene)

Desmosterolosis (DHCR24 Single Gene Test) (1 gene)

Diabetes-Obesity NGS Panel (56 genes)

Diamond-Blackfan Anemia NGS Panel (10 genes)

Diastrophic Dysplasia (SLC26A2 Single Gene Test) (1 gene)

DICER1 Syndrome (DICER1 Single Gene Test) (1 gene)

Dihydrolipoamide Dehydrogenase Deficiency (DLD Single Gene Test) (1 gene)

Dihydropyrimidinase Deficiency (DPYS Single Gene Test) (1 gene)

Dihydropyrimidine Dehydrogenase Deficiency (DPYD Single Gene Test) (1 gene)

Dilated Cardiomyopathy NGS Panel (78 genes)

Disorders of Sex Development NGS Panel (200 genes)

Distal Arthrogryposis Syndromes NGS Panel (6 genes)

Distal Hereditary Motor Neuropathy NGS Panel (16 genes)

Distal Hereditary Myopathy NGS Panel (14 genes)

Dolichoectasia NGS Panel (7 genes)

Donnai-Barrow Syndrome (LRP2 Single Gene Test) (1 gene)

Donohue Syndrome (INSR Single Gene Test) (1 gene)

DOORS Syndrome (TBC1D24 Single Gene Test) (1 gene)

Dopa-Responsive Dystonia NGS Panel (3 genes)

Dopamine Metabolism Deficiency NGS Panel (16 genes)

Dopamine Transporter Deficiency Syndrome (SLC6A3 Single Gene Test) (1 gene)

Dowling-Degos Disease (KRT5 Single Gene Test) (1 gene)

Dravet Syndrome NGS Panel (11 genes)

Duane-radial Ray Syndrome (SALL4 Single Gene Test) (1 gene)

Dubin-Johnson Syndrome (ABCC2 Single Gene Test) (1 gene)

Duchenne And Becker Muscular Dystrophy (DMD Single Gene Test) (1 gene)

Dyskeratosis Congenita NGS Panel (11 genes)

Dystonia Dyskinesia NGS Panel (25 genes)

Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel (13 genes)

E

Early Onset Epileptic Encephalopathy NGS Panel (137 genes)

Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel (3 genes)

Early-Onset Ataxia NGS Panel (134 genes)

Early-onset Myopathy With Fatal Cardiomyopathy (TTN Single Gene Test) (1 gene)

Early-Onset Primary Dystonia (TOR1A Single Gene Test) (1 gene)

Ectodermal Dysplasia and Related Conditions NGS Panel (98 genes)

Ectodermal Dysplasia NGS Panel (3 genes)

Ectopia Lentis NGS Panel (15 genes)

Ehlers-Danlos Syndrome NGS Panel (22 genes)

Ellis-Van Creveld Syndrome NGS Panel (2 genes)

Encephalocraniocutaneous Lipomatosis (FGFR1 Single Gene Test) (1 gene)

Eosinophil Peroxidase Deficiency (EPX Single Gene Test) (1 gene)

Epidermolysis Bullosa NGS Panel (13 genes)

Epilepsy Comprehensive NGS Panel (406 genes)

Erdheim-Chester Disease (BRAF Single Gene Test) (1 gene)

Erythrocytosis NGS Panel (24 genes)

Erythromelalgia (SCN9A Single Gene Test) (1 gene)

Essential Pentosuria (DCXR Single Gene Test) (1 gene)

Ethylmalonic Encephalopathy (ETHE1 Single Gene Test) (1 gene)

Expanded Polycystic Kidney Disease (with Nephronophthisis) NGS Panel (76 genes)

F

Fabry Disease (GLA Single Gene Test) (1 gene)

Facial Dysostosis and Related Disorders NGS Panel (51 genes)

Factor VII Deficiency (F7 Single Gene Test) (1 gene)

Factor X Deficiency (F10 Single Gene Test) (1 gene)

Familial Cylindromatosis (CYLD Single Gene Test) (1 gene)

Familial Dysautonomia (ELP1 Single Gene Test) (1 gene)

Familial Encephalopathy With Neuroserpin Inclusion Bodies (SERPINI1 Single Gene Test) (1 gene)

Familial Hemophagocytic Lymphohistiocytosis NGS Panel (7 genes)

Familial Hypercholesterolemia NGS Panel (4 genes)

Familial Hypertriglyceridemia NGS Panel (14 genes)

Familial Lipoprotein Lipase Deficiency (LPL Single Gene Test) (1 gene)

Familial Male-Limited Precocious Puberty (LHCGR Single Gene Test) (1 gene)

Familial Osteochondritis Dissecans (ACAN Single Gene Test) (1 gene)

Familial Paroxysmal Kinesigenic Dyskinesia (PRRT2 Single Gene Test) (1 gene)

Familial Paroxysmal Nonkinesigenic Dyskinesia (PNKD Single Gene Test) (1 gene)

Familial Pityriasis Rubra Pilaris (CARD14 Single Gene Test) (1 gene)

Familial Porencephaly (COL4A1 Single Gene Test) (1 gene)

Fanconi Anemia NGS Panel (22 genes)

Farber Lipogranulomatosis (ASAH1 Single Gene Test) (1 gene)

Fatty Acid Hydroxylase-associated Neurodegeneration (FA2H Single Gene Test) (1 gene)

Fatty Acid Oxidation Deficiency NGS Panel (33 genes)

Feingold Syndrome (MYCN Single Gene Test) (1 gene)

Female Infertility NGS Panel (42 genes)

FGFR-Related Craniosynostosis NGS Panel (3 genes)

Fibrodysplasia Ossificans Progressiva (ACVR1 Single Gene Test) (1 gene)

Fibronectin Glomerulopathy (FN1 Single Gene Test) (1 gene)

Fish-eye Disease (LCAT Single Gene Test) (1 gene)

Flecked Retina NGS Panel (14 genes)

Floating-Harbor Syndrome (SRCAP Single Gene Test) (1 gene)

Focal Dermal Hypoplasia (PORCN Single Gene Test) (1 gene)

Focal Glomerulonephrosis NGS Panel (7 genes)

Focus Thrombotic Microangiopathy NGS Panel (22 genes)

Frasier Syndrome (WT1 Single Gene Test) (1 gene)

Freeman-Sheldon Syndrome (MYH3 Single Gene Test) (1 gene)

Frontometaphyseal Dysplasia (FLNA Single Gene Test) (1 gene)

Frontotemporal Dementia With Parkinsonism-17 (MAPT Single Gene Test) (1 gene)

Fucosidosis (FUCA1 Single Gene Test) (1 gene)

Fukuyama Congenital Muscular Dystrophy (FKTN Single Gene Test) (1 gene)

Fumarase Deficiency (FH Single Gene Test) (1 gene)

G

GABA Metabolism Deficiency NGS Panel (30 genes)

Galactosemia NGS Panel (3 genes)

Galactosialidosis (CTSA Single Gene Test) (1 gene)

Gastrointestinal Atresia NGS Panel (7 genes)

Genitopatellar Syndrome (KAT6B Single Gene Test) (1 gene)

Ghosal Hematodiaphyseal Dysplasia (TBXAS1 Single Gene Test) (1 gene)

Giant Axonal Neuropathy (GAN Single Gene Test) (1 gene)

Gilbert Syndrome (UGT1A1 Single Gene Test) (1 gene)

Gillespie Syndrome (PAX6 Single Gene Test) (1 gene)

Glaucoma Focus NGS Panel (27 genes)

Globozoospermia (DPY19L2 Single Gene Test) (1 gene)

Glucocorticoid Deficiency NGS Panel (6 genes)

Glucose Phosphate Isomerase Deficiency (GPI Single Gene Test) (1 gene)

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Single Gene Test) (1 gene)

Glucose-Galactose Malabsorption (SLC5A1 Single Gene Test) (1 gene)

GLUT1 Deficiency Syndrome (SLC2A1 Single Gene Test) (1 gene)

Glutamate Formiminotransferase Deficiency (FTCD Single Gene Test) (1 gene)

Glutaric Acidemia Disorders NGS Panel (8 genes)

Glutathione Synthetase Deficiency (GSS Single Gene Test) (1 gene)

Glycine Encephalopathy NGS Panel (3 genes)

Glycogen-Storage NGS Panel (30 genes)

Glycoprotein VI Deficiency (GP6 Single Gene Test) (1 gene)

GM1 Gangliosidosis (GLB1 Single Gene Test) (1 gene)

GM2-gangliosidosis, AB Variant (GM2A Single Gene Test) (1 gene)

GM3 Synthase Deficiency (ST3GAL5 Single Gene Test) (1 gene)

Gnathodiaphyseal Dysplasia (ANO5 Single Gene Test) (1 gene)

Gorlin Syndrome (PTCH1 Single Gene Test) (1 gene)

GRACILE Syndrome (BCS1L Single Gene Test) (1 gene)

Gray Platelet Syndrome (NBEAL2 Single Gene Test) (1 gene)

Greenberg Dysplasia (LBR Single Gene Test) (1 gene)

GRN-related Frontotemporal Dementia (GRN Single Gene Test) (1 gene)

Guanidinoacetate Methyltransferase Deficiency (GAMT Single Gene Test) (1 gene)

Gyrate Atrophy Of The Choroid And Retina (OAT Single Gene Test) (1 gene)

H

Hypophosphatasia (ALPL Single Gene Test) (1 gene)

Hajdu-Cheney Syndrome (NOTCH2 Single Gene Test) (1 gene)

Hartnup Disease (SLC6A19 Single Gene Test) (1 gene)

Hartsfield Syndrome (FGFR1 Single Gene Test) (1 gene)

Helsmoortel-van Der Aa Syndrome (ADNP Single Gene Test) (1 gene)

Hemiplegia/Stroke NGS Panel (15 genes)

Hemochromatosis NGS Panel (7 genes)

Hemochromatosis Type 4 (SLC40A1 Single Gene Test) (1 gene)

Hepatic Lipase Deficiency (LIPC Single Gene Test) (1 gene)

Hepatic Veno-Occlusive Disease With Immunodeficiency (SP110 Single Gene Test) (1 gene)

Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps Syndrome (COL4A1 Single Gene Test) (1 gene)

Hereditary Antithrombin Deficiency (SERPINC1 Single Gene Test) (1 gene)

Hereditary Folate Malabsorption (SLC46A1 Single Gene Test) (1 gene)

Hereditary Fructose Intolerance (ALDOB Single Gene Test) (1 gene)

Hereditary Hemorrhagic Telangiectasia NGS Panel (6 genes)

Hereditary Multiple Osteochondromas (HM Exostoses) NGS Panel (2 genes)

Hereditary Myopathy With Early Respiratory Failure (TTN Single Gene Test) (1 gene)

Hereditary Neuralgic Amyotrophy (SEPT9 Single Gene Test) (1 gene)

Hereditary Neuropathies NGS Panel (41 genes)

Hereditary Spherocytosis NGS Panel (5 genes)

Hermansky-Pudlak Syndrome NGS Panel (9 genes)

Heterotaxy and Situs Inversus NGS Panel (22 genes)

Hirschsprung Disease NGS Panel (5 genes)

Histidinemia (HAL Single Gene Test) (1 gene)

Histiocytosis-Lymphadenopathy Plus Syndrome (SLC29A3 Single Gene Test) (1 gene)

HIVEP2-related Intellectual Disability (HIVEP2 Single Gene Test) (1 gene)

Holocarboxylase Synthetase Deficiency (HLCS Single Gene Test) (1 gene)

Holoprosencephaly NGS Panel (19 genes)

Holt-Oram Syndrome (TBX5 Single Gene Test) (1 gene)

Horizontal Gaze Palsy With Progressive Scoliosis (ROBO3 Single Gene Test) (1 gene)

Hyper-IgE Syndrome NGS Panel (5 genes)

Hyperammonemia and Urea Cycle Disorder NGS Panel (56 genes)

Hyperferritinemia-Cataract Syndrome (FTL Single Gene Test) (1 gene)

Hyperinsulinism NGS Panel (28 genes)

Hyperlipidemia NGS Panel (11 genes)

Hyperlysinemia (AASS Single Gene Test) (1 gene)

Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis (SLC30A10 Single Gene Test) (1 gene)

Hyperparathyroidism NGS Panel (6 genes)

Hyperphenylalaninemia NGS Panel (6 genes)

Hyperprolinemia NGS Panel (2 genes)

Hypertrophic Cardiomyopathy NGS Panel (86 genes)

Hypochondrogenesis (COL2A1 Single Gene Test) (1 gene)

Hypochondroplasia (FGFR3 Single Gene Test) (1 gene)

Hypochromic Microcytic Anemia With Iron Overload (SLC11A2 Single Gene Test) (1 gene)

Hypoglycemia Beta-Oxidation NGS Panel (14 genes)

Hypoglycemia Galactose-Fructose-Metabolism NGS Panel (4 genes)

Hypoglycemia Gluconeogenesis NGS Panel (4 genes)

Hypoglycemia Ketogenesis NGS Panel (2 genes)

Hypoglycemia Ketolysis NGS Panel (3 genes)

Hypoglycemia NGS Panel (60 genes)

Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel (13 genes)

Hypokalemic and Hyperkalemic Periodic Paralysis NGS Panel (8 genes)

Hypomagnesemia NGS Panel (23 genes)

Hypomyelinating Leukodystrophy NGS Panel (64 genes)

Hypomyelination And Congenital Cataract (FAM126A Single Gene Test) (1 gene)

Hypophosphatemic Rickets NGS Panel (21 genes)

Hypothyroidism and Resistance to Thyroid Hormone NGS Panel (29 genes)

Hystrix-like Ichthyosis With Deafness (GJB2 Single Gene Test) (1 gene)

I

Ichthyosis NGS Panel (44 genes)

Ichthyosis Vulgaris (FLG Single Gene Test) (1 gene)

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome (FOXP3 Single Gene Test) (1 gene)

Inclusion Body Myopathy NGS Panel (5 genes)

Incontinentia Pigmenti (IKBKG Single Gene Test) (1 gene)

Infantile Neuroaxonal Dystrophy (PLA2G6 Single Gene Test) (1 gene)

Infantile Spasms NGS Panel (18 genes)

Infantile Systemic Hyalinosis (ANTXR2 Single Gene Test) (1 gene)

Infantile-onset Ascending Hereditary Spastic Paralysis (ALS2 Single Gene Test) (1 gene)

Infantile-onset Spinocerebellar Ataxia (TWNK Single Gene Test) (1 gene)

Inflammatory Bowel Disease NGS Panel (122 genes)

Inherited Thyroxine-binding Globulin Deficiency (SERPINA7 Single Gene Test) (1 gene)

Intellectual Disability NGS Panel (563 genes)

Intrahepatic Cholestasis NGS Panel (5 genes)

Intranuclear Rod Myopathy (ACTA1 Single Gene Test) (1 gene)

IRAK-4 Deficiency (IRAK4 Single Gene Test) (1 gene)

Iron-refractory Iron Deficiency Anemia (TMPRSS6 Single Gene Test) (1 gene)

Isobutyryl-CoA Dehydrogenase Deficiency (ACAD8 Single Gene Test) (1 gene)

Isolated Duane Retraction Syndrome (CHN1 Single Gene Test) (1 gene)

Isolated Hyperchlorhidrosis (CA12 Single Gene Test) (1 gene)

Isolated HyperCKemia (CAV3 Single Gene Test) (1 gene)

Isolated Pierre Robin Sequence (SOX9 Single Gene Test) (1 gene)

Isovaleric Acidemia (IVD Single Gene Test) (1 gene)

J

Jervell and Lange-Nielsen Syndrome NGS Panel (2 genes)

Joubert and Meckel NGS Panel (43 genes)

Juvenile Hyaline Fibromatosis (ANTXR2 Single Gene Test) (1 gene)

Juvenile Paget Disease (TNFRSF11B Single Gene Test) (1 gene)

Juvenile Primary Osteoporosis (LRP5 Single Gene Test) (1 gene)

K

Kabuki and Kabuki-like Syndromes NGS Panel (12 genes)

Kallmann Syndrome NGS Panel (19 genes)

Kartagener's Syndrome/Heterotaxy with Chronic Respiratory Infections NGS Panel (11 genes)

Kaufman Oculocerebrofacial Syndrome (UBE3B Single Gene Test) (1 gene)

Kawasaki Disease (ITPKC Single Gene Test) (1 gene)

KBG Syndrome (ANKRD11 Single Gene Test) (1 gene)

Keratitis-ichthyosis-deafness Syndrome (GJB2 Single Gene Test) (1 gene)

Ketone Body Metabolism Deficiency NGS Panel (5 genes)

Kindler Syndrome (FERMT1 Single Gene Test) (1 gene)

Klippel-Trenaunay Syndrome (PIK3CA Single Gene Test) (1 gene)

Kniest Dysplasia (COL2A1 Single Gene Test) (1 gene)

Knobloch Syndrome (COL18A1 Single Gene Test) (1 gene)

Krabbe Disease (GALC Single Gene Test) (1 gene)

Kuskokwim Syndrome (FKBP10 Single Gene Test) (1 gene)

L

L1 Syndrome (L1CAM Single Gene Test) (1 gene)

Lactic Acidosis-Pyruvate NGS Panel (70 genes)

Laing Distal Myopathy (MYH7 Single Gene Test) (1 gene)

LAMA2-Related Muscular Dystrophy (LAMA2 Single Gene Test) (1 gene)

Langer Mesomelic Dysplasia (SHOX Single Gene Test) (1 gene)

Laron Syndrome (GHR Single Gene Test) (1 gene)

Larsen Syndrome (FLNB Single Gene Test) (1 gene)

Laryngo-Onycho-Cutaneous Syndrome (LAMA3 Single Gene Test) (1 gene)

Late-Onset Ataxia NGS Panel (57 genes)

Lateral Meningocele Syndrome (NOTCH3 Single Gene Test) (1 gene)

Lattice Corneal Dystrophy Type I (TGFBI Single Gene Test) (1 gene)

Lattice Corneal Dystrophy Type II (GSN Single Gene Test) (1 gene)

Left Ventricular Non-Compaction Cardiomyopathy NGS Panel (24 genes)

Legg-Calvé-Perthes Disease (COL2A1 Single Gene Test) (1 gene)

Legius Syndrome (SPRED1 Single Gene Test) (1 gene)

Leigh Disease NGS Panel (75 genes)

Leptin Receptor Deficiency (LEPR Single Gene Test) (1 gene)

Lesch-Nyhan Syndrome (HPRT1 Single Gene Test) (1 gene)

Leukocyte Adhesion Deficiency Type 1 (ITGB2 Single Gene Test) (1 gene)

Leukoencephalopathy NGS Panel (69 genes)

Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation (DARS2 Single Gene Test) (1 gene)

Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate (EARS2 Single Gene Test) (1 gene)

Leydig Cell Hypoplasia (LHCGR Single Gene Test) (1 gene)

Liddle Syndrome NGS Panel (2 genes)

Liebenberg Syndrome (PITX1 Single Gene Test) (1 gene)

Limb-Girdle Muscular Dystrophy NGS Panel (21 genes)

Lipid Metabolism Deficiency NGS Panel (71 genes)

Lipodystrophy NGS Panel (10 genes)

Lipoid Proteinosis (ECM1 Single Gene Test) (1 gene)

Lissencephaly NGS Panel (15 genes)

Loeys-Dietz Syndrome NGS Panel (6 genes)

Long QT/Brugada Syndrome NGS Panel (34 genes)

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA Single Gene Test) (1 gene)

Lowe Syndrome (OCRL Single Gene Test) (1 gene)

Lujan Syndrome (MED12 Single Gene Test) (1 gene)

Lung Disorders NGS Panel (69 genes)

Lymphedema-Distichiasis Syndrome (FOXC2 Single Gene Test) (1 gene)

Lysinuric Protein Intolerance (SLC7A7 Single Gene Test) (1 gene)

Lysosomal Disorders NGS Panel (106 genes)

Léri-Weill Dyschondrosteosis (SHOX Single Gene Test) (1 gene)

M

Macrocephaly/Overgrowth Syndrome NGS Panel (47 genes)

Macrozoospermia (AURKC Single Gene Test) (1 gene)

Macular Degeneration NGS Panel (19 genes)

Mainzer-Saldino Syndrome (IFT140 Single Gene Test) (1 gene)

Majeed Syndrome (LPIN2 Single Gene Test) (1 gene)

Mal De Meleda (SLURP1 Single Gene Test) (1 gene)

Male Infertility NGS Panel (45 genes)

Malignant Hyperthermia Susceptibility NGS Panel (2 genes)

Malonyl-CoA Decarboxylase Deficiency (MLYCD Single Gene Test) (1 gene)

Mandibulofacial Dysostosis With Microcephaly (EFTUD2 Single Gene Test) (1 gene)

Manitoba Oculotrichoanal Syndrome (FREM1 Single Gene Test) (1 gene)

Mannose-Binding Lectin Deficiency (MBL2 Single Gene Test) (1 gene)

Maple Syrup Urine Disease NGS Panel (4 genes)

Marfan Syndrome (FBN1 Single Gene Test) (1 gene)

Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel (39 genes)

Marinesco-Sjögren Syndrome (SIL1 Single Gene Test) (1 gene)

McCune-Albright Syndrome (GNAS Single Gene Test) (1 gene)

McKusick-Kaufman Syndrome (MKKS Single Gene Test) (1 gene)

McLeod Neuroacanthocytosis Syndrome (XK Single Gene Test) (1 gene)

MECP2-Related Severe Neonatal Encephalopathy (MECP2 Single Gene Test) (1 gene)

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (ACADM Single Gene Test) (1 gene)

Megalencephaly-Capillary Malformation Syndrome (PIK3CA Single Gene Test) (1 gene)

MEGDEL Syndrome (SERAC1 Single Gene Test) (1 gene)

Meier-Gorlin Syndrome NGS Panel (7 genes)

Melnick-Needles Syndrome (FLNA Single Gene Test) (1 gene)

Menkes Syndrome (ATP7A Single Gene Test) (1 gene)

Metaphyseal Dysplasia NGS Panel (10 genes)

Metatropic Dysplasia (TRPV4 Single Gene Test) (1 gene)

Methemoglobinemia, Beta-Globin Type (HBB Single Gene Test) (1 gene)

Methylmalonic Acid Metabolism NGS Panel (13 genes)

Methylmalonic Aciduria and Homocystinuria NGS Panel (3 genes)

Mevalonate Kinase Deficiency (MVK Single Gene Test) (1 gene)

Micro Syndrome NGS Panel (7 genes)

Microcephaly NGS Panel (76 genes)

Microcephaly-Capillary Malformation Syndrome (STAMBP Single Gene Test) (1 gene)

Micromelic Dysplasia NGS Panel (24 genes)

Microphthalmia, Anophthalmia, and Coloboma Panel (104 genes)

Migraine NGS Panel (19 genes)

Miller Syndrome (DHODH Single Gene Test) (1 gene)

Milroy Disease (FLT4 Single Gene Test) (1 gene)

Mitochondrial Genome NGS Panel (37 genes)

MODY Neonatal Diabetes NGS Panel (34 genes)

Monoamine Oxidase A Deficiency (MAOA Single Gene Test) (1 gene)

Monogenic Hypertension NGS Panel (17 genes)

Mowat-Wilson Syndrome (ZEB2 Single Gene Test) (1 gene)

Moyamoya Disease (RNF213 Single Gene Test) (1 gene)

MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome (MPV17 Single Gene Test) (1 gene)

mtDNA Depletion Syndrome NGS Panel (16 genes)

Muckle-Wells Syndrome (NLRP3 Single Gene Test) (1 gene)

Mucopolysaccharidosis NGS Panel (12 genes)

Muenke Syndrome (FGFR3 Single Gene Test) (1 gene)

Multicentric Osteolysis, Nodulosis, And Arthropathy (MMP2 Single Gene Test) (1 gene)

Multiple Acyl-coA Dehydrogenase Deficiency NGS Panel (3 genes)

Multiple Cutaneous And Mucosal Venous Malformations (TEK Single Gene Test) (1 gene)

Multiple Epiphyseal Dysplasia NGS Panel (8 genes)

Multiple Familial Trichoepithelioma (CYLD Single Gene Test) (1 gene)

Multiple Sulfatase Deficiency (SUMF1 Single Gene Test) (1 gene)

Muscular Dystrophies NGS Panel (42 genes)

MyD88 Deficiency (MYD88 Single Gene Test) (1 gene)

Myelofibrosis NGS Panel (4 genes)

MYH9-Related Disorder (MYH9 Single Gene Test) (1 gene)

Myhre Syndrome (SMAD4 Single Gene Test) (1 gene)

Myoclonus-Dystonia (SGCE Single Gene Test) (1 gene)

Myofibrillar Myopathy NGS Panel (8 genes)

Myopathy With Deficiency Of Iron-sulfur Cluster Assembly Enzyme (ISCU Single Gene Test) (1 gene)

Myopathy-Rhabdomyolysis NGS Panel (30 genes)

Myosin Storage Myopathy (MYH7 Single Gene Test) (1 gene)

Myostatin-Related Muscle Hypertrophy (MSTN Single Gene Test) (1 gene)

Müllerian Aplasia And Hyperandrogenism (WNT4 Single Gene Test) (1 gene)

N

N-Acetylglutamate Synthase Deficiency (NAGS Single Gene Test) (1 gene)

Naegeli-Franceschetti-Jadassohn Syndrome NGS Panel (2 genes)

Nail-patella Syndrome (LMX1B Single Gene Test) (1 gene)

Nakajo-Nishimura Syndrome (PSMB8 Single Gene Test) (1 gene)

Nemaline Myopathy NGS Panel (8 genes)

Neonatal Epilepsy NGS Panel (281 genes)

Neonatal Onset Multisystem Inflammatory Disease (NLRP3 Single Gene Test) (1 gene)

Nephronophthisis NGS Panel (12 genes)

Netherton Syndrome (SPINK5 Single Gene Test) (1 gene)

Neuro-Ophthalmic Disorders NGS Panel (26 genes)

Neuroferritinopathy (FTL Single Gene Test) (1 gene)

Neurofibromatosis NGS Panel (3 genes)

Neurohypophyseal Diabetes Insipidus (AVP Single Gene Test) (1 gene)

Neuromuscular NGS Panel (138 genes)

Neuronal Ceroid Lipofuscinosis NGS Panel (14 genes)

Neuronal Migration Disorders NGS Panel (84 genes)

Neurotransmitter Metabolism Deficiency NGS Panel (101 genes)

Neutral Lipid Storage Disease With Myopathy (PNPLA2 Single Gene Test) (1 gene)

Neutropenia NGS Panel (21 genes)

Newborn Genetic Analysis NGS Panel (257 genes)

Nicolaides-Baraitser Syndrome (SMARCA2 Single Gene Test) (1 gene)

Nijmegen Breakage Syndrome (NBN Single Gene Test) (1 gene)

Non-Immune Hydrops Fetalis Comprehensive NGS Panel (428 genes)

Non-Immune Hydrops Fetalis Focus NGS Panel (155 genes)

Nondystrophic Myotonia NGS Panel (10 genes)

Nonsyndromic Congenital Nail Disorder 10 (FZD6 Single Gene Test) (1 gene)

Nonsyndromic Hearing Loss NGS Panel (100 genes)

Nonsyndromic Hypotrichosis NGS Panel (13 genes)

Noonan and RASopathies NGS Panel (31 genes)

Norrie Disease (NDP Single Gene Test) (1 gene)

North American Indian Childhood Cirrhosis (UTP4 Single Gene Test) (1 gene)

Nuclear-Mito NGS Panel (677 genes)

O

Ocular Albinism (GPR143 Single Gene Test) (1 gene)

Oculocutaneous Albinism NGS Panel (14 genes)

Oculodentodigital Dysplasia (GJA1 Single Gene Test) (1 gene)

Oculofaciocardiodental Syndrome (BCOR Single Gene Test) (1 gene)

Ohdo Syndrome, Maat-Kievit-Brunner Type (MED12 Single Gene Test) (1 gene)

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant (KAT6B Single Gene Test) (1 gene)

Oligodontia NGS Panel (11 genes)

Ophthalmo-Acromelic Syndrome (SMOC1 Single Gene Test) (1 gene)

Optic Atrophy Type 1 (OPA1 Single Gene Test) (1 gene)

Oral-Facial-Digital Syndrome (OFD1 Single Gene Test) (1 gene)

Ornithine Transcarbamylase Deficiency (OTC Single Gene Test) (1 gene)

Ornithine Translocase Deficiency (SLC25A15 Single Gene Test) (1 gene)

Osteogenesis Imperfecta and Decreased Bone Density NGS Panel (59 genes)

Osteogenesis Imperfecta NGS Panel (14 genes)

Osteoglophonic Dysplasia (FGFR1 Single Gene Test) (1 gene)

Osteoporosis-Pseudoglioma Syndrome (LRP5 Single Gene Test) (1 gene)

Otopalatodigital Syndrome (FLNA Single Gene Test) (1 gene)

Otospondylomegaepiphyseal Dysplasia (COL11A2 Single Gene Test) (1 gene)

Otulipenia (OTULIN Single Gene Test) (1 gene)

Oxidative Phosphorylation Disorders NGS Panel (235 genes)

P

Pachyonychia Congenita NGS Panel (9 genes)

Paget Disease of Bone NGS Panel (2 genes)

Pallister-Hall Syndrome (GLI3 Single Gene Test) (1 gene)

Palmoplantar Keratoderma NGS Panel (36 genes)

Pantothenate Kinase-Associated Neurodegeneration (PANK2 Single Gene Test) (1 gene)

Paramyotonia Congenita (SCN4A Single Gene Test) (1 gene)

Parkes Weber Syndrome (RASA1 Single Gene Test) (1 gene)

Parkinson Disease Comprehensive NGS Panel (26 genes)

Parkinson Disease Focus NGS Panel (7 genes)

Parkinson-Alzheimer-Dementia NGS Panel (35 genes)

Paroxysmal Extreme Pain Disorder NGS Panel (53 genes)

Partington Syndrome (ARX Single Gene Test) (1 gene)

Pediatric Cancer NGS Panel (52 genes)

Pediatric Cancer with MMR Genes NGS Panel (56 genes)

Pelizaeus-Merzbacher Disease (PLP1 Single Gene Test) (1 gene)

Periodic Fever/Autoinflammatory Disorders NGS Panel (56 genes)

Peroxisomal NGS Panel (21 genes)

Perry Syndrome (DCTN1 Single Gene Test) (1 gene)

Peters Plus Syndrome (B3GLCT Single Gene Test) (1 gene)

Peutz-Jeghers Syndrome (STK11 Single Gene Test) (1 gene)

PGx Comprehensive NGS Panel (44 genes)

PGx Focus NGS Panel (18 genes)

PGx NUDT15 Genotyping (Thiopurine Tolerance) (NUDT15 Single Gene Test) (1 gene)

PGx: TPMT (TPMT Single Gene Test) (1 gene)

Phenylketonuria (PAH Single Gene Test) (1 gene)

Phosphoglycerate Dehydrogenase Deficiency (PHGDH Single Gene Test) (1 gene)

Phosphoglycerate Kinase Deficiency (PGK1 Single Gene Test) (1 gene)

Phosphoglycerate Mutase Deficiency (PGAM2 Single Gene Test) (1 gene)

Phosphoribosylpyrophosphate Synthetase Superactivity (PRPS1 Single Gene Test) (1 gene)

Pitt-Hopkins Syndrome (TCF4 Single Gene Test) (1 gene)

Platelet Disorder NGS Panel (44 genes)

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (COL2A1 Single Gene Test) (1 gene)

Polycystic Kidney Disease NGS Panel (6 genes)

Polymicrogyria NGS Panel (7 genes)

Pompe Disease (GAA Single Gene Test) (1 gene)

Pontocerebellar Hypoplasia NGS Panel (9 genes)

Popliteal Pterygium Syndrome (IRF6 Single Gene Test) (1 gene)

Porphyria Disorders NGS Panel (11 genes)

PPM-X Syndrome (MECP2 Single Gene Test) (1 gene)

Prader-Willi/Angelman Syndrome with Methylation Analysis NGS Panel (3 genes)

Preimplantation Genetic Testing for Aneuploidy NGS Panel (0 gene)

Prekallikrein Deficiency (KLKB1 Single Gene Test) (1 gene)

Primary Antibody Deficiency NGS Panel (37 genes)

Primary Carnitine Deficiency (SLC22A5 Single Gene Test) (1 gene)

Primary Ciliary Dyskinesia NGS Panel (49 genes)

Primary Hyperaldosteronism NGS Panel (5 genes)

Primary Hyperoxaluria NGS Panel (3 genes)

Primary Spontaneous Pneumothorax (FLCN Single Gene Test) (1 gene)

Primordial Dwarfism NGS Panel (26 genes)

Prion Disease (PRNP Single Gene Test) (1 gene)

Progeria Syndrome NGS Panel (16 genes)

Progressive Myoclonic Epilepsy NGS Panel (19 genes)

Progressive Osseous Heteroplasia (GNAS Single Gene Test) (1 gene)

Progressive Pseudorheumatoid Dysplasia (WISP3 Single Gene Test) (1 gene)

Progressive Supranuclear Palsy (MAPT Single Gene Test) (1 gene)

Prolidase Deficiency (PEPD Single Gene Test) (1 gene)

Proopiomelanocortin Deficiency (POMC Single Gene Test) (1 gene)

Propionic Acidemia NGS Panel (9 genes)

Protein C Deficiency (PROC Single Gene Test) (1 gene)

Protein S Deficiency (PROS1 Single Gene Test) (1 gene)

Proteus Syndrome (AKT1 Single Gene Test) (1 gene)

Pseudoachondroplasia (COMP Single Gene Test) (1 gene)

Pseudocholinesterase Deficiency (BCHE Single Gene Test) (1 gene)

Pseudohypoaldosteronism Type 2 NGS Panel (10 genes)

Pseudoxanthoma Elasticum (ABCC6 Single Gene Test) (1 gene)

Pulmonary Alveolar Microlithiasis (SLC34A2 Single Gene Test) (1 gene)

Pulmonary Arterial Hypertension NGS Panel (8 genes)

Purine Nucleoside Phosphorylase Deficiency (PNP Single Gene Test) (1 gene)

Pyle Disease (SFRP4 Single Gene Test) (1 gene)

Pyruvate Kinase Deficiency (PKLR Single Gene Test) (1 gene)

Pyruvate Metabolism Disorders NGS Panel (14 genes)

R

Rabson-Mendenhall Syndrome (INSR Single Gene Test) (1 gene)

RAPADILINO Syndrome (RECQL4 Single Gene Test) (1 gene)

Rapid-onset Dystonia Parkinsonism (ATP1A3 Single Gene Test) (1 gene)

Refsum Disease NGS Panel (5 genes)

REN-related Kidney Disease (REN Single Gene Test) (1 gene)

Renal Coloboma Syndrome (PAX2 Single Gene Test) (1 gene)

Renal Tubular Acidosis NGS Panel (7 genes)

Renpenning Syndrome (PQBP1 Single Gene Test) (1 gene)

Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis (IGFBP7 Single Gene Test) (1 gene)

Retinitis Pigmentosa NGS Panel (125 genes)

Retinopathy and Optic Atrophy NGS Panel (243 genes)

Rett Syndrome (MECP2 Single Gene Test) (1 gene)

Rett-Angelman NGS Panel (30 genes)

Riboflavin Transporter Deficiency Neuronopathy NGS Panel (2 genes)

Rippling Muscle Disease (CAV3 Single Gene Test) (1 gene)

Roberts Syndrome (ESCO2 Single Gene Test) (1 gene)

Robinow Syndrome NGS Panel (5 genes)

Rothmund-Thomson Syndrome (RECQL4 Single Gene Test) (1 gene)

RRM2B-related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy (RRM2B Single Gene Test) (1 gene)

Rubinstein-Taybi Syndrome NGS Panel (3 genes)

S

SADDAN (FGFR3 Single Gene Test) (1 gene)

Sandhoff Disease (HEXB Single Gene Test) (1 gene)

Scalp-Ear-Nipple Syndrome (KCTD1 Single Gene Test) (1 gene)

Schimke Immuno-Osseous Dysplasia (SMARCAL1 Single Gene Test) (1 gene)

Schindler Disease (NAGA Single Gene Test) (1 gene)

Schinzel-Giedion Syndrome (SETBP1 Single Gene Test) (1 gene)

Schwannomatosis NGS Panel (7 genes)

Schwartz-Jampel Syndrome (HSPG2 Single Gene Test) (1 gene)

Senior-Loken Syndrome NGS Panel (5 genes)

Sepiapterin Reductase Deficiency (SPR Single Gene Test) (1 gene)

Septo-optic Dysplasia NGS Panel (8 genes)

Serotonin Metabolism Deficiency NGS Panel (17 genes)

Severe Combined Immunodeficiency NGS Panel (91 genes)

Short QT Syndrome NGS Panel (6 genes)

Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel (15 genes)

Short Stature NGS Panel (153 genes)

Short-chain Acyl-CoA Dehydrogenase Deficiency (ACADS Single Gene Test) (1 gene)

Shwachman-Diamond Syndrome NGS Panel (4 genes)

Sialic Acid Storage Disease (SLC17A5 Single Gene Test) (1 gene)

Sialidosis (NEU1 Single Gene Test) (1 gene)

Sialuria (GNE Single Gene Test) (1 gene)

Sickle Cell Disease (HBB Single Gene Test) (1 gene)

Silver Syndrome (BSCL2 Single Gene Test) (1 gene)

Simpson-Golabi-Behmel Syndrome (GPC3 Single Gene Test) (1 gene)

Single Gene NGS Panel (By selection)

Sjögren-Larsson Syndrome (ALDH3A2 Single Gene Test) (1 gene)

Skeletal Dysplasias NGS Panel (333 genes)

SLC4A1-Associated Distal Renal Tubular Acidosis (SLC4A1 Single Gene Test) (1 gene)

Smith-Lemli-Opitz Syndrome (DHCR7 Single Gene Test) (1 gene)

Snyder-Robinson Syndrome (SMS Single Gene Test) (1 gene)

SOST-Related Sclerosing Bone Dysplasia (SOST Single Gene Test) (1 gene)

Sotos Syndrome (NSD1 Single Gene Test) (1 gene)

SOX2 Anophthalmia Syndrome (SOX2 Single Gene Test) (1 gene)

Spastic Paraplegia NGS Panel (38 genes)

Spinal Muscular Atrophy NGS Panel (29 genes)

Spinal Muscular Atrophy With Respiratory Distress Type 1 (IGHMBP2 Single Gene Test) (1 gene)

Spondylocarpotarsal Synostosis Syndrome (FLNB Single Gene Test) (1 gene)

Spondylocostal Dysostosis NGS Panel (3 genes)

Spondyloenchondrodysplasia With Immune Dysregulation (ACP5 Single Gene Test) (1 gene)

Spondyloepiphyseal Dysplasia (COL2A1 Single Gene Test) (1 gene)

Steatocystoma Multiplex (KRT17 Single Gene Test) (1 gene)

Steroid-Resistant Nephrotic Syndrome NGS Panel (14 genes)

Stickler Syndrome NGS Panel (6 genes)

STING-Associated Vasculopathy With Onset In Infancy (TMEM173 Single Gene Test) (1 gene)

Stormorken Syndrome (STIM1 Single Gene Test) (1 gene)

Structural Heart Disease NGS Panel (28 genes)

Sturge-Weber Syndrome (GNAQ Single Gene Test) (1 gene)

Stüve-Wiedemann Syndrome (LIFR Single Gene Test) (1 gene)

Succinic Semialdehyde Dehydrogenase Deficiency (ALDH5A1 Single Gene Test) (1 gene)

Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency (OXCT1 Single Gene Test) (1 gene)

Sudden Death Syndrome NGS Panel (68 genes)

Supravalvular Aortic Stenosis (ELN Single Gene Test) (1 gene)

Surfactant NGS Panel (5 genes)

Syndromic Congenital Muscular Dystrophy NGS Panel (5 genes)

Syndromic Hearing Loss NGS Panel (92 genes)

SYNGAP1-Related Intellectual Disability (SYNGAP1 Single Gene Test) (1 gene)

T

T-cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy (FOXN1 Single Gene Test) (1 gene)

Tangier Disease (ABCA1 Single Gene Test) (1 gene)

TAR Syndrome (RBM8A Single Gene Test) (1 gene)

Tarsal-Carpal Coalition Syndrome (NOG Single Gene Test) (1 gene)

Tay-Sachs Disease (HEXA Single Gene Test) (1 gene)

TCA Cycle NGS Panel (15 genes)

Telomere-Related Pulmonary Fibrosis NGS Panel (2 genes)

Tetra-Amelia Syndrome (WNT3 Single Gene Test) (1 gene)

Tetrahydrofolate Metabolism NGS Panel (13 genes)

Thanatophoric Dysplasia (FGFR3 Single Gene Test) (1 gene)

Thiamine-Responsive Megaloblastic Anemia Syndrome (SLC19A2 Single Gene Test) (1 gene)

Thrombocytopenia NGS Panel (44 genes)

Thrombotic Disorder NGS Panel (18 genes)

Thrombotic Thrombocytopenic Purpura (ADAMTS13 Single Gene Test) (1 gene)

Tibial Muscular Dystrophy (TTN Single Gene Test) (1 gene)

Tietz Syndrome (MITF Single Gene Test) (1 gene)

Timothy Syndrome (CACNA1C Single Gene Test) (1 gene)

TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form (TK2 Single Gene Test) (1 gene)

Tourette Syndrome (SLITRK1 Single Gene Test) (1 gene)

Townes-Brocks Syndrome (SALL1 Single Gene Test) (1 gene)

Transcobalamin Deficiency (TCN2 Single Gene Test) (1 gene)

Transient Neonatal Diabetes Mellitus (PLAGL1 Single Gene Test) (1 gene)

Transthyretin Amyloidosis (TTR Single Gene Test) (1 gene)

Treacher Collins and Related Disorders NGS Panel (9 genes)

Trimethylaminuria (FMO3 Single Gene Test) (1 gene)

Triosephosphate Isomerase Deficiency (TPI1 Single Gene Test) (1 gene)

Triple A Syndrome (AAAS Single Gene Test) (1 gene)

Troyer Syndrome (SPART Single Gene Test) (1 gene)

Tuberous Sclerosis NGS Panel (2 genes)

Tumor Necrosis Factor Receptor-associated Periodic Syndrome (TNFRSF1A Single Gene Test) (1 gene)

TYMP-related Mitochondrial Neurogastrointestinal Encephalopathy Disease (TYMP Single Gene Test) (1 gene)

Type A Insulin Resistance Syndrome (INSR Single Gene Test) (1 gene)

Type VI Collagenopathy NGS Panel (4 genes)

Tyrosine Hydroxylase Deficiency (TH Single Gene Test) (1 gene)

Tyrosinemia NGS Panel (4 genes)

U

Ullrich Muscular Dystrophy NGS Panel (3 genes)

Uromodulin-Associated Kidney Disease (UMOD Single Gene Test) (1 gene)

Usher Syndrome NGS Panel (17 genes)

V

Van der Woude Syndrome NGS Panel (2 genes)

Vascular Malformations NGS Panel (44 genes)

Vibratory Urticaria (ADGRE2 Single Gene Test) (1 gene)

Vitreoretinochoroidopathy (BEST1 Single Gene Test) (1 gene)

Vitreoretinopathy and Wagner Syndrome NGS Panel (6 genes)

VLDLR-associated Cerebellar Hypoplasia (VLDLR Single Gene Test) (1 gene)

Von Hippel-Lindau Syndrome (VHL Single Gene Test) (1 gene)

Von Willebrand Disease (VWF Single Gene Test) (1 gene)

W

Waardenburg Syndrome NGS Panel (8 genes)

Wagner Syndrome (VCAN Single Gene Test) (1 gene)

Walker Warburg Syndrome NGS Panel (7 genes)

Warsaw Breakage Syndrome (DDX11 Single Gene Test) (1 gene)

Weaver Syndrome (EZH2 Single Gene Test) (1 gene)

Weissenbacher-Zweymüller Syndrome (COL11A2 Single Gene Test) (1 gene)

Werner Syndrome (WRN Single Gene Test) (1 gene)

Winchester Syndrome (MMP14 Single Gene Test) (1 gene)

Wiskott-Aldrich Syndrome (WAS Single Gene Test) (1 gene)

Wolff-Parkinson-White Syndrome (PRKAG2 Single Gene Test) (1 gene)

Wolfram Syndrome Comprehensive NGS Panel (2 genes)

Woodhouse-Sakati Syndrome (DCAF17 Single Gene Test) (1 gene)

X

X-Inactivation Analysis NGS Panel (0 gene)

X-Linked Adrenal Hypoplasia Congenita (NR0B1 Single Gene Test) (1 gene)

X-Linked Adrenoleukodystrophy (ABCD1 Single Gene Test) (1 gene)

X-Linked Cardiac Valvular Dysplasia (FLNA Single Gene Test) (1 gene)

X-Linked Chondrodysplasia Punctata 1 (ARSE Single Gene Test) (1 gene)

X-Linked Chondrodysplasia Punctata 2 (EBP Single Gene Test) (1 gene)

X-Linked Creatine Deficiency (SLC6A8 Single Gene Test) (1 gene)

X-Linked Dystonia-Parkinsonism (TAF1 Single Gene Test) (1 gene)

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia (MAGT1 Single Gene Test) (1 gene)

X-Linked Infantile Nystagmus (FRMD7 Single Gene Test) (1 gene)

X-Linked Intellectual Disability, Siderius Type (PHF8 Single Gene Test) (1 gene)

X-Linked Juvenile Retinoschisis (RS1 Single Gene Test) (1 gene)

X-Linked Myotubular Myopathy (MTM1 Single Gene Test) (1 gene)

X-Linked Sideroblastic Anemia And Ataxia (ABCB7 Single Gene Test) (1 gene)

X-Linked Spondyloepiphyseal Dysplasia Tarda (TRAPPC2 Single Gene Test) (1 gene)

X-Linked Thrombocytopenia (WAS Single Gene Test) (1 gene)

Xeroderma Pigmentosum NGS Panel (9 genes)

XLID (X-Linked Intellectual Disability) NGS Panel (114 genes)

Z

ZAP70-Related Severe Combined Immunodeficiency (ZAP70 Single Gene Test) (1 gene)

Zellweger Syndrome NGS Panel (12 genes)

#

17 Alpha-Hydroxylase/17,20-Lyase Deficiency (CYP17A1 Single Gene Test) (1 gene)

17-Beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency (HSD17B4 Single Gene Test) (1 gene)

2-Methylbutyryl-CoA Dehydrogenase Deficiency (ACADSB Single Gene Test) (1 gene)

21-Hydroxylase Deficiency (CYP21A2 Single Gene Test) (1 gene)

3-Beta-Hydroxysteroid Dehydrogenase Deficiency (HSD3B2 Single Gene Test) (1 gene)

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMGCL Single Gene Test) (1 gene)

3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH Single Gene Test) (1 gene)

3-M Syndrome NGS Panel (16 genes)

3-Methylcrotonyl, CoA Carboxylase Deficiency NGS Panel (2 genes)

46,XY Sex Reversal NGS Panel (10 genes)

5-Alpha Reductase Deficiency (SRD5A2 Single Gene Test) (1 gene)

17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency (HSD17B3 Single Gene Test) (1 gene)