HaloDNA Test

Neurological Disease

• Pheochromocytoma
• Acrocallosal Syndrome (ACLS)
• Agenesis of The Corpus Callosum with Peripheral Neuropathy
• Aicardi-Goutieres Syndrome (AGS)
• Alstrom Syndrome (AS)
• Angelman Syndrome (AS)
• Ataxia-Telangiectasia (AT)
• Auditory Neuropathy (AN)
• Baraitser-Winter Syndrome (BRWS)
• Borjeson-Forssman-Lehmann Syndrome (BFLS)
• Branchiooculofacial Syndrome (BOFS)
• Charcot-Marie-Tooth Disease (CMT)
• Cockayne Syndrome (CS)
• Coffin-Lowry Syndrome (CLS)
• Cohen Syndrome (COH)
• Cornelia de Lange Syndrome (CdLS)
• De Sanctis-Cacchione Syndrome (DSC)
• Dementia with Lewy Body
• Developmental and Epileptic Encephalopathy (DEE)
• Early-Onset Alzheimer’s Disease
• Familial Amyotrophic Lateral Sclerosis (FALS)
• Familial Dysautonomia (FD)
• FG Syndrome
• Giant Axonal Neuropathy (GAN)
• Hereditary Motor and Sensory Neuropathy (HMSN)
• Hereditary Sensory and Autonomic Neuropathy (HSAN)
• Holoprosencephaly (HPE)
• Hydrocephalus Syndrome
• Hypomyelination and Congenital Cataract (HCC)
• Infantile Cerebellar-Retinal Degeneration (ICRD)
• Intellectual Disability-Hypotonic Facies Syndrome
• Joubert Syndrome (JS)
• Kabuki Syndrome (KS)
• KBG Syndrome
• L1 Syndrome
• Leigh Syndrome
• Lissencephaly
• Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)
• Metachromatic Leukodystrophy (MLD)
• Microcephaly-Capillary Malformation Syndrome (MICCAP)
• Mowat-Wilson Syndrome (MWS)
• Neu-Laxova Syndrome (NLS)
• Neurodegeneration with Brain Iron Accumulation (NBIA)
• Neuronal Ceroid Lipofuscinosis (NCL)
• Nicolaides-Baraitser Syndrome (NCBRS)
• Niemann-Pick Disease (NPD)
• Ogden Syndrome
• Optic Atrophy (OA)
• Pelizaeus-Merzbacher Disease (PMD)
• Phosphomannomutase 2-Congenital Disorder of Glycosylation
• Pontocerebellar Hypoplasia (PCH)
• Renpenning Syndrome (RENS)
• Rett Syndrome (RTT)
• Revesz Syndrome
• Seckel Syndrome
• Spinal Muscular Atrophy (SMA)
• Striatonigral Degeneration (SND)
• Tay-Sachs Disease (TSD)
• Troyer Syndrome
• Warburg Micro Syndrome (WARBM)
• Zellweger Syndrome Spectrum

Hepatobiliary Disease

• Cholestasis
  Crigler-Najjar Syndrome (CNS)
• Hemochromatosis

Eye Disease

• Achromatopsia
• Aniridia
• Axenfeld-Rieger Syndrome (ARS)
• Choroidal Dystrophy, Central Areolar (CACD)
• Choroideremia
  Cone-Rod Dystrophy (CRD)
• Congenital Fibrosis of Extraocular Muscles (CFEOM)
• Congenital Stationary Night Blindness (CSNB)
• Duane Syndrome (DS)
• Familial Exudative Vitreoretinopathy (FEVR)
• Fundus Albipunctatus (FA)
• Leber Congenital Amaurosis (LCA)
• Nance-Horan Syndrome (NHS)
• Progressive External Ophthalmoplegia (PEO)
• Retinitis Pigmentosa (RP)
• Stargardt Disease
  Vitreoretinochoroidopathy (VRCP)

Cardiovascular Disease

• Brugada Syndrome
• Loeys Dietz Syndrome
• Wolff-Parkinson-White Syndrome
• TTR-Related Cardiac Amyloidosis
• Hypertrophic Cardiomyopathy
• Sick Sinus Syndrome
• Short QT Syndrome
• Catecholaminergic Polymorphic Ventricular Tachycardia
• Familial Thoracic Aortic Aneurysm
• Dilated Cardiomyopathy
• Marfan Syndrome
• Noonan Syndrome
• Restrictive Cardiomyopathy
• Primary Pulmonary Hypertension
• Long QT Syndrome
• Arrhythmogenic Right Ventricular Cardiomyopathy
• Left Ventricular Noncompaction
• Familial Atrial Fibrillation
  Cardiofaciocutaneous Syndrome (CFC)
• Hennekam Lymphangiectasia-Lymphedema Syndrome (HKLLS)

Metabolic Disease

• Alpha-1 Antitrypsin Deficiency
• 3-Methylcrotonyl CoA Carboxylase 2 Deficiency
• 3-Methylglutaconic Aciduria (MGA)
• Acyl-Coenzyme A Dehydrogenase Deficiency
• Alkaptonuria
• Alpha-1 Antitrypsin Deficiency
• Alpha-N-Acetylgalactosaminidase Deficiency (α-NAGA)
• Arginase Deficiency (ARG)
• Argininosuccinate Lyase Deficiency
• Aspartylglucosaminuria (AGU)
• Bardet-Biedl Syndrome (BBS)
• Biotinidase Deficiency (BTD)
• Bloom Syndrome (BLM)
• Citrullinemia
• Coenzyme Q10 Deficiency, Primary (COQ10D)
• Combined Oxidative Phosphorylation Deficiency (COXPD)
• Congenital Bile Acid Synthesis Defect (CBAS)
• Congenital Disorder of Deglycosylation (CDDG)
• Congenital Disorder of Glycosylation (CDG)
• Congenital Generalized Lipodystrophy (CGL)
• D-2-hydroxyglutaric Aciduria (D2HGA)
• Fabry Disease
• Familial Partial Lipodystrophy (FPL)
• Fish-Eye Disease (FED)
• Fucosidosis
• Galactosemia (GALAC)
• Galactosialidosis (GSL)
• Gaucher Disease (GD)
• Glucose-6-Phosphate Dehydrogenase Deficiency
• GLUT1 Deficiency Syndrome
• Glutaric Acidemia (GA)
• Glutaric Aciduria Type 1
• Glycogen Storage Disease (GSD)
• Holocarboxylase Synthetase Deficiency (HCSD)
• Homocystinuria (HCU)
• Hyperinsulinemic Hypoglycemia (HH)
• Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH)
• Hyperphosphatasia with Intellectual Disability Syndrome
• Hypobetalipoproteinemia (HBL)
• Hypophosphatasia (HPP)
• Isolated Growth Hormone Deficiency (IGHD)
• Isovaleric Acidemia (IVA)
• Lesch-Nyhan Syndrome (LNS)
• Leucine-Induced Hypoglycemia (LIH)
• Lowe Syndrome
• Maple Syrup Urine Disease (MSUD)
• Maturity-Onset Diabetes of the Young (MODY)
• Methylmalonic Acidemia
• Methylmalonic Acidemia with Homocystinuria
• Methylmalonic Aciduria
• Methylmalonic Aciduria and Homocystinuria
• Mevalonic Aciduria (MA)
• Mitochondrial Complex II Deficiency (MC2D)
• Mitochondrial DNA Depletion Syndrome (MDS)
• Mucolipidosis
• Mucopolysaccharidosis (MPS)
• Multiple Sulfatase Deficiency (MSD)
• Ornithine Aminotransferase Deficiency (OAT)
• Permanent Neonatal Diabetes Mellitus (PNDM)
• Primary Hyperoxaluria (PH)
• Propionic Acidemia (PA)
• Pyruvate Carboxylase Deficiency (PCD)
• Refsum Disease (RD)
• Salla Disease (SD)
• Sandhoff Disease
• Sialidosis
• Sitosterolemia
• Smith-Lemli-Opitz Syndrome (SLOS)
• Trifunctional Protein Deficiency (TFP)
• Tyrosinemia
• Werner Syndrome
• Wilson Disease
• Wolfram Syndrome

Bone Disease

• Acromicric Dysplasia
  Bruck Syndrome (BS)
• Cranioectodermal Dysplasia (CED)
• Desbuquois Dysplasia
• Diastrophic Dysplasia
• Ellis-van Creveld Syndrome (EVC)
• Frontometaphyseal Dysplasia (FMD)
• Geleophysic Dysplasia
• Hypochondroplasia
• Hypophosphatemic Rickets (HR)
• Kniest Dysplasia
• Mandibuloacral Dysplasia with Type A Lipodystrophy (MADA)
• Metaphyseal Dysplasia without Hypotrichosis (MDWH)
• Nail-patella Syndrome (NPS)
• Osteogenesis Imperfecta (OI)
• Osteopathia Striata with Cranial Sclerosis (OSCS)
• Osteopetrosis
• Rapadilino Syndrome
• Rhizomelic Chondrodysplasia Punctata (RCDP)
• Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI)

Ear Disease

• Alport Syndrome
• Pendred Syndrome
• Stickler Syndrome
• Usher Syndrome
• X-Linked Non-Syndromic Hereditary Deafness
• Large Vestibular Aqueduct Syndrome
• Autosomal Dominant Non-Syndromic Deafness
• Autosomal Recessive Non-Syndromic Deafness
• Aminoglycoside-Induced Deafness
• Mitochondrial Hereditary Non-Syndromic Deafness
  Peroxisome Biosynthesis Disorder
• Branchiootorenal Spectrum Disorder
• Jervell-Lange-Nielsen Syndrome
• Mohr-Tranebjaerg Syndrome
• Otospondylomegaepiphyseal Dysplasia (OSMED)

Skin Disease

• Congenital Ichthyosis
• Cutis Laxa (CL)
• Dyskeratosis Congenita (DC)
• Epidermolysis Bullosa (EB)
• Incontinentia Pigmenti (IP)
• Oculocutaneous Albinism (OCA)
• Rothmund-Thomson Syndrome (RTS)
• Skin/Hair/Eye Pigmentation (SHEP)
• Wrinkly Skin Syndrome (WSS)
• Xeroderma Pigmentosum (XP)

Blood Disease

• Congenital Amegakaryocytic Thrombocytopenia (CAMT)
• Congenital Dyserythropoietic Anemia (CDA)
• Diamond-Blackfan Anemia (DBA)
• Elliptocytosis
• Factor V Deficiency
• Factor VII Deficiency
• Factor XI Deficiency
• Familial erythrocytosis
• Familial Hypercholesterolemia Type B
• Fanconi Anemia (FA)
• Haemophilia A
• Haemophilia B
• Hermansky-Pudlak Syndrome (HPS)
• Pyruvate Kinase Deficiency (PKD)
• Sideroblastic Anemia (SA)
• Thrombocytopenia
• Thrombophilia

Immune Disease

• Agammaglobulinemia
  Chediak-Higashi Syndrome (CHS)
• Familial Cold Autoinflammatory Syndrome (FCAS)
• Griscelli Syndrome (GS)
• Immunodeficiency
  Lymphoproliferative Syndrome
• Severe Combined Immunodeficiency (SCID)
• Wiskott-Aldrich Syndrome (WAS)

Gastrointestinal Disease

• Hereditary Fructose Intolerance
• Hereditary Pancreatitis (HP)
• Johanson-Blizzard Syndrome (JBS)
• Juvenile Polyposis Syndrome (JPS)
• Meckel Syndrome (MKS)
• Pancreatic Agenesis (PAGEN)
• Renal-Hepatic-Pancreatic Dysplasia (RHPD)
• Shwachman-Diamond Syndrome (SDS)
• Cystic Fibrosis (CF)

Muscle Disease

• Duchenne Muscular Dystrophy
• Akinesia Deformation Sequence (ADS)
• Arthrogryposis Multiplex Congenita (AMC)
• Becker Muscular Dystrophy (BMD)
• Brachydactyly
  Centronuclear Myopathy (CNM)
• Congenital Multicore Myopathy with External Ophthalmoplegia
• Costello Syndrome
  Craniofrontonasal Syndrome (CFNS)
• Crouzon Syndrome
• Distal Myopathy with Anterior Tibial Onset (DMAT)
• Floating-Harbor Syndrome (FHS)
• Hutchinson-Gilford Progeria Syndrom (HGPS)
• Hypokalemic Periodic Paralysis (HKOPP)
• Kenny-Caffey Syndrome (KCS)
• Lethal Congenital Contracture Syndrome (LCCS)
• Limb-Girdle Muscular Dystrophy (LGMD)
• Microcephalic Osteodysplastic Primordial Dwarfism (MOPD)
• Miyoshi Muscular Dystrophy (MMD)
• Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS)
• Myhre Syndrome
  Myofibrillar Myopathy (MFM)
• Nemaline Myopathy (NM)
• Osteoglophonic Dysplasia
  Progressive Pseudorheumatoid Dysplasia (PPRD)
• Pulmonary Lymphangioleiomyomatosis
• Roberts Syndrome
• Robinow Syndrome
• Rubinstein-Taybi Syndrome (RSTS)
• Saethre-Chotzen Syndrome (SCS)
• Spondylocarpotarsal Synostosis Syndrome (SCT)
• Spondylocostal Dysostosis (SCDO)
• Spondyloepimetaphyseal Dysplasia (SEMD)
• Spondyloepiphyseal Dysplasia (SED)
• Spondylometaphyseal Dysplasia (SMD)
• Spondyloperipheral Dysplasia (SPD)
• Syndactyly
  Torsion Dystonia
  Treacher Collins Syndrome (TCS)
• Yunis-Varon Syndrome (YVS)

Kidney Disease

• Bartter Syndrome
• Dent Disease
• Focal Segmental
• Glomerulosclerosis (FSGS)
• Nephronophthisis (NPHP)
• Nephropathic Cystinosis
  Polycystic Kidney Disease (PKD)
• Pseudohypoaldosteronism (PHA)
• Renal Carnitine Transport Defect
• Senior-Loken Syndrome (SLSN)

Other Disease

• Acth-independent Macronodular Adrenal Hyperplasia (AIMAH)
• Bohring-Opitz Syndrome (BOS)
• Combined Pituitary Hormone Deficiency (CPHD)
• Ehlers-Danlos Syndrome (EDS)
• Hereditary Desmoid Disease (HDD)
• Meier-Gorlin Syndrome (MGS)
• Popliteal Pterygium Syndrome (PPS)
• Pseudohypoparathyroidism (PHP)
• Pseudopseudohypoparathyroidism (PPHP)
• Selective Tooth Agenesis (STA)
• Sengers Syndrome
  Smith-McCort Dysplasia (SMC)
• Sotos Syndrome
  Thanatophoric Dysplasia
  Trichorhinophalangeal Syndrome (TRPS)
• Vitamin D-Dependent Rickets (VDDR)
• Weill-Marchesani Syndrome (WMS)