Ataxia

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Delivery Time:
10 days
Sample:
2-5 mL EDTA-Blood - Lavender Top Tube
Alternative:

Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision. In type 2, ataxia begins around age 15.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
10 days
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease. At least 4 of these (A, C, D, and E) map to chromosome 11q23 and are associated with mutations in the ATM gene.

Test Details
Description:
Delivery Time:
20 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
10 days
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Creutzfeldt-Jakob disease (CJD) is a rare and fatal condition that affects the brain. CJD appears to be caused by an abnormal infectious protein called a prion. These prions accumulate at high levels in the brain and cause irreversible damage to nerve cells, resulting in loss of intellect and memory, change in personality, loss of balance and co-ordination, vision problems and blindness as well as abnormal jerking movements.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein. It is also known as Haw River Syndrome and Naito-Oyanagi disease.

Test Details
Description:
Delivery Time:
4 weeks
Sample:
2-5 Ml Blood Sample
Alternative:

Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures . The disorder affects newborns, usually within the first three months of life.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures . The disorder affects newborns, usually within the first three months of life.

Test Details
Description:
Delivery Time:
20 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Early infantile epileptic encephalopathy (EIEE) is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.

Test Details
Description:
Delivery Time:
20 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA.

Test Details
Description:
Delivery Time:
20 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness; and impaired speech, hearing, and vision.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

Gerstmann–Sträussler–Scheinker syndrome (GSS) is a very rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age. It is characterized by an adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

The individuals with GLUT1 Deficiency Syndrome generally have frequent seizures (epilepsy) beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size (microcephaly). People with this form of GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of confusion, lack of energy (lethargy), headaches, or muscle twitches (myoclonus), particularly during periods without food (fasting).

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
10 days
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. The disorder is progressive and often leads to death from hepatic failure or status epilepticus before age 3 years. Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness

Test Details
Description:
Delivery Time:
20 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Although it is considered a progressive myoclonic epilepsy, it differs from other forms in that is appears to be progressive only in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilizes in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Delivery Time:
2 weeks
Sample:
6 ml. blood sample
Alternative:

SANDO is an autosomal recessive systemic disorder characterized mainly by adult onset of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Spinocerebellar ataxia with epilepsy (SCAE) is a similar disorder with a higher frequency of migraine headaches and seizures.

Test Details
Description:
Delivery Time:
20 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
10 days
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Test Details
Description:
Delivery Time:
4 weeks
Sample:
2-5 Ml Blood Sample
Alternative:

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe.

Test Details
Description:
Delivery Time:
20 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Test Details
Description:
Delivery Time:
20 days
Sample:
2-5 Ml Blood Sample
Alternative:

Test Details
Description:
Delivery Time:
4 weeks
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right.

Test Details
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
2 weeks
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
4 weeks
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative: