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Adrenal
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Anti-Sulfatide Neuropathy
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Atypical Rett Syndrome
Autism
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Autoimmune Polyglandular Syndrome
Autoimmune Rapidly Progressive Dementia
Autosomal Dominant Ataxia
Autosomal Dominant Hereditary Spastic Paraplegia
Autosomal Dominant Hypocalcemia
Autosomal Dominant Intellectual Disability
Autosomal Dominant Optic Atrophy
Autosomal Dominant Polycystic Kidney Disease (familial mutation only)
Autosomal Recessive Ataxia
Baltic Myoclonus
Bardet-Biedl Syndrome
Bartter-Gitelman Syndrome
Bone Fragility
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
Calpainopathy
Cancer-Associated Retinopathy
CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral Cavernous Malformations
Cerebral Small Vessel Disease (CSVD)
Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth Disease (CMT), CMT Type 2J (CMT2J)
Charcot-Marie-Tooth Disease (CMT), CMT2I (CMT Type 2I)
Charcot-Marie-Tooth Disease (CMT), Dominant Intermediate Type C
Charcot-Marie-Tooth Disease (CMT), Type 1A (CMT1A)
Charcot-Marie-Tooth Disease (CMT), Type 1B (CMT1B)
Charcot-Marie-Tooth Disease (CMT), Type 1C (CMT1C)
Charcot-Marie-Tooth Disease (CMT), Type 1D (CMT1D)
Charcot-Marie-Tooth Disease (CMT), Type 1E (CMT1E)
Charcot-Marie-Tooth Disease (CMT), Type 1X (CMT1X/CMTX)
Charcot-Marie-Tooth Disease (CMT), Type 2A (CMT2A)
Charcot-Marie-Tooth Disease (CMT), Type 2B (CMT2B)
Charcot-Marie-Tooth Disease (CMT), Type 2B1 (CMT2B1)
Charcot-Marie-Tooth Disease (CMT), Type 2C (CMT2C)
Charcot-Marie-Tooth Disease (CMT), Type 2D (CMT2D)
Charcot-Marie-Tooth Disease (CMT), Type 2E (CMT2E)
Charcot-Marie-Tooth Disease (CMT), Type 2F (CMT2F)
Charcot-Marie-Tooth Disease (CMT), Type 2K (CMT2K)
Charcot-Marie-Tooth Disease (CMT), Type 2L (CMT2L)
Charcot-Marie-Tooth Disease (CMT), Type 2M (CMT2M) and Dominant Intermediate B
Charcot-Marie-Tooth Disease (CMT), Type 4A (CMT4A)
Charcot-Marie-Tooth Disease (CMT), Type 4B (CMT4B)
Charcot-Marie-Tooth Disease (CMT), Type 4C (CMT4C)
Charcot-Marie-Tooth Disease (CMT), Type 4D (CMT4D)
Charcot-Marie-Tooth Disease (CMT), Type 4E (CMT4E)
Charcot-Marie-Tooth Disease (CMT), Type 4F (CMT4F)
Charcot-Marie-Tooth Disease (CMT), Type 4H (CMT4H)
Charcot-Marie-Tooth Disease (CMT), Type 4J (CMT4J)
Chronic Progressive External Ophthalmoplegia (CPEO)
Combined Pituitary Hormone Deficiency
Congenital Adrenal Hyperplasia
Congenital Hyperinsulinism
Congenital Hypomyelination Neuropathy
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Congenital Myasthenic Syndrome
Congenital Myopathy
Congenital Nephrotic Syndrome of the Finnish Type (CNF) and Focal Segmental Glomerulosclerosis (
Congenital Variant
DAX1
Deafness
Dejerine-Sottas Syndrome
Demyelinating Disease
Dentatorubralpallidoluysian Atrophy
Developmental Disability
Diabetes
Distal Myopathy
Dravet Syndrome
Duchenne Muscular Dystrophy (DMD)
Duchenne/Becker muscular dystrophy (DMD/BMD)
Dysmorphic Syndrome
Dystonia 5
Dystonia 6
Early Infantile Epileptic Encephalopathy
Early-onset Obesity
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
Endocrine Hypertension
Epilepsy
Episodic Ataxia
Familial Amyloidotic Polyneuropathy, Type 1
Familial amyotrophic lateral Sclerosis (FALS)
Familial Hemiplegic Migraine
Familial Hypocalciuric Hypercalcemia
Familial Idiopathic Hyperparathyroidism
Familial Juvenile Hyperuricemic (or Gouty) Nephropathy (FJHN) and Medullary Cystic Kidney Diseas
Familial Juvenile Nephronophthisis (FJN)
Familial Medullary Thyroid Cancer
Familial Migraine
Familial Paroxysmal Kinesigenic Dyskinesia (FPKD)
Family Testing
FHM Type 1
FHM Type 2
Focal Segmental Glomerulosclerosis
Focal Segmental Glomerulosclerosis (FSGS)
Friedreich's Ataxia
Frontotemporal Dementia
Gait ataxia late onset polyneuropathy (GALOP) syndrome
Gait Ataxia Late Onset Polyneuropathy (GALOP) Syndrome
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Genetic forms of obesity
Glucocorticoid-remediable Aldosteronism
GLUT1 Deficiency Syndrome
Growth Hormone Deficiency
Guillain-Barré Syndrome
Hemiplegic Migraine (sporadic or familial)
Hepatocerebral
Hepatoencephalopathic Type of Mitochondrial Disease
Hereditary Ataxia
Hereditary Neuralgic Amyotrophy (HNA)
Hereditary Neuropathy with Susceptibility to Pressure Palsies (HNPP)
Hereditary Sensory and Autonomic Neuropathy (HSAN)
Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia
Huntington's Disease
Hypophosphatemic Rickets
Idiopathic GH Deficiency
Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome
Idiopathic Osteoporosis
Idiopathic Short Stature
Intellectual Disability
Joubert Syndrome and Related Disorders
Kennedy's Disease
Lambert-Eaton Myasthenic Syndrome
Leber's Hereditary Optic Neuropathy (LHON)
Leigh's Syndrome
Leukoencephalopathy with Vanishing White Matter
LGMD1C
LGMD2A
LGMD2B
LGMD2B
LGMD2C
LGMD2D
LGMD2I
Liddle's Syndrome
Limb Girdle Muscular Dystrophy
Limb Girdle Muscular Dystrophy (2)
Lower Motor Neuron Disease
Male Precocious Puberty
Malignant Hyperthermia
Maturity-Onset Diabetes of Young (MODY)
MDC1C
MELAS
MERRF
Metachromatic Leukodystrophy
Migraine
Migraine with Aura
Miller-Fisher Syndrome
Mitochondrial Disease
Mitochondrial Disease associated with Mitochondrial Depletion Syndrome
Mitochondrial Disease Associated with Mitochondrial Depletion Syndrome
Mitochondrial Disease, Hepatocerebral
Mitochondrial Disease, Hepatoencephalopathic
Mitochondrial DNA Depletion Syndrome Type 1
Mitochondrial DNA Depletion Syndrome Type 6
Mitochondrial Encephalomyopathy
Mitochondrial Hepatoencephalopathy
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)
Mitochondrial recessive Ataxia Syndrome (MIRAS)
Miyoshi myopathy
MODY1
MODY2
MODY3
MODY5
MODY8
Monogenic Hypertension
Motor Peripheral Neuropathy
Multifocal Motor Neuropathy
Multifocal Neuropathies
Multifocal Neuropathy (MFN)
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2
Multiple Sclerosis
Muscular Dystrophy
Myasthenia Gravis (MG)
Myelin Disorder
Myoclonus-Dystonia
Myofibrillar Myopathy
Myotonia Congenita
Myotonic Dystrophy, Type 1
Myotonic Dystrophy, Type 2
Myotonic Syndrome
Neonatal Diabetes Mellitus
Nephrogenic Diabetes Insipidus
Nephrotic Syndrome
Neurofibromatosis Type 1
Neurofibromatosis Type 2
Neuromyelitis Optica
Neuromyotonia
Newborn Congenital
Noonan Syndrome
Oculomotor Apraxia-Ataxia
Oculopharyngeal Muscular Dystrophy (OPMD)
Optic Atrophy
Optic Neuropathy
Osteoporosis-Pseudoglioma Syndrome
Paraneoplastic Neurological Syndrome
Parkinson's Disease
Paroxysmal Nonkinesigenic Dyskinesia
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher-Like Disease
Periodic Paralysis
Pheochromocytoma
Pituitary Disorders
Polycystic Kidney Disease (PKD)
Primary Adrenal Insufficiency
Primary Early-Onset Dystonia
Primary Microcephaly
Primary Torsion Dystonia
Progressive External Ophthalmoplegia
Pseudohypoaldosteronism Type 1
Pyruvate Dehydrogenase E1-Alpha deficiency
Renal Cysts and Diabetes (RCAD)
Rett Syndrome
Risk Factor
Sarcoglycanopathy
Seizure disorders
Seizure Disorders
Sensorineural Hearing Loss
Sensory and Motor Neuropathies
Sensory neuropathy
Severe Myoclonic Epilepsy of Infancy (SMEI)
Sodium Channel Myotonia
Spinal and Bulbar Muscular Atrophy
Spinal muscular atrophy (SMA)
Spinal Muscular Atrophy (SMA)
Spinocerebellar Ataxia Type 1 (SCA1)
Spinocerebellar Ataxia Type 10 (SCA10)
Spinocerebellar Ataxia Type 12 (SCA12)
Spinocerebellar Ataxia Type 17 (SCA17)
Spinocerebellar Ataxia Type 2 (SCA2)
Spinocerebellar Ataxia Type 3 (SCA3)
Spinocerebellar Ataxia Type 6 (SCA6)
Spinocerebellar Ataxia Type 7 (SCA7)
Spinocerebellar Ataxia Type 8 (SCA8)
Sporadic Nephrotic Syndrome
Steroid-resistant nephrotic Syndrome (SRNS)
Stiff Person Syndrome
Symptomless Carriers of Spinal Muscular Atrophy (SMA)
Tuberous Sclerosis
Type 4F (CMT4F)
Unverricht-Lundborg Disease
Von Hippel-Lindau Syndrome
X-linked Adrenal Hypoplasia Congenita
X-linked Adrenoleukodystrophy
X-linked Hypophosphatemic Rickets
Zollinger-Ellison Syndrome
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