Epilepsy

Infection-induced acute encephalopathy 3 (IIAE3) is the susceptibility to recurrent acute necrotizing encephalopathy (ANE) caused by a heterozygous pathogenic variant in RANBP2.

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

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon and negative serologic investigations for common prenatal infections.

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

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment.

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:

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:

Andermann syndrome is an autosomal recessive motor and sensory neuropathy with agenesis of the corpus callosum associated with developmental and neurodegenerative defects and dysmorphic features.

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

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age.

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

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae.

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

Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman recognized that multiple carboxylase deficiency could be classified into early and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively.

Test Details
Description:
Delivery Time:
3 days
Sample:
DBS
Alternative:

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age.

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

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae.

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

Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman recognized that multiple carboxylase deficiency could be classified into early and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively.

Test Details
Description:
Delivery Time:
3 days
Sample:
DBS
Alternative:

Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman recognized that multiple carboxylase deficiency could be classified into early and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively.

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

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure.

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

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles

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

The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life.

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:
2 weeks
Sample:
2-5 mL Blood - Lavender Top Tube
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:

Dravet syndrome is a clinical term for early-onset epileptic encephalopathy (EIEE) characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Seizures are usually refractory to treatment.

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
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Dystonia Type 12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction.

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:

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:

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:

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:
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:
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:

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:
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
10 days
Sample:
2-5 mL Blood - Lavender Top Tube
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:

Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation

Test Details
Description:
Delivery Time:
10 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:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
2 weeks
Sample:
2-5 mL Blood - Lavender Top Tube
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:
15 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 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 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:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Focal cortical dysplasia is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity

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

Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges.

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:
20 days
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Patients with isolated febrile seizures usually have onset between ages 6 months and 4 years and show spontaneous remission by age 6 years.

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:

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:

Patients with isolated febrile seizures usually have onset between ages 6 months and 4 years and show spontaneous remission by age 6 years.

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

Patients with isolated febrile seizures usually have onset between ages 6 months and 4 years and show spontaneous remission by age 6 years.

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

Patients with isolated febrile seizures usually have onset between ages 6 months and 4 years and show spontaneous remission by age 6 years.

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

Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy.

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

Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy affecting up to 26% of all individuals with EIG. Individuals with JME have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks occur usually in the morning.

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

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

X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype.

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

Detected regions: 1q21.1 (TAR syndrome), 1q21.1, 3q29, 7q36.1 (CNTNAP2 gene), 12p11.3, 15q13.3, 15q24.1 (PML gene), 16p11, 17q12, 18q21.2 (TCF4), 20p12.2 (PAK7 gene)

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

Test Details
Description:
Delivery Time:
10 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:

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase and sulfite oxidase, both of which use molybdenum as a cofactor. Most affected individuals die in early childhood.

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

NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed.

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

Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable.

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:

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals.

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

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene, referred to as type C2. The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes.

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:

The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosis type II is 1 in 25,000 live births.

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:

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene, referred to as type C2. The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes.

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:

Partington syndrome is an X-linked developmental disorder characterized by mental retardation and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome to infantile spasms without brain malformations to nonsyndromic mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected

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

Vitamin B6, or pyridoxal 5-prime-phosphate (PLP), is critical for normal cellular function, and some cancer cells have notable differences in vitamin B6 metabolism compared to their normal counterparts. The rate-limiting enzyme in vitamin B6 synthesis is pyridoxine 5-prime-phosphate (PNP) oxidase.

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

Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures.

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

Patients are with severe mental retardation (MR), absence of speech, epilepsy, stereotypic movements.

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:
2 weeks
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Patients are with severe mental retardation (MR), absence of speech, severe hypotonia, epilepsy, stereotypic movements.

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:
2 weeks
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability.

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:

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability.

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: