Intellectual Disability

Intellectual disability is a disability characterized by significant limitations in both intellectual functioning and in adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Asperger syndrome is considered to be a form of childhood autism.

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

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:

Asperger syndrome is considered to be a form of childhood autism.

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

Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved

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

Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis.

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

Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females.

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:

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis.

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 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 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:

Intellectual disability is a disability characterized by significant limitations in both intellectual functioning and in adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Test Details
Description:
Delivery Time:
2 weeks
Sample:
5ml venomous blood
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:

Fragile X syndrome is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain

Test Details
Description:
Delivery Time:
2 weeks
Sample:
Venous blood
Alternative:
Buccal mucosa

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:

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:

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

Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes. Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Behavioral problems and seizures have also been reported in children with this condition. Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills such as sitting, standing, and walking.

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:

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:

Detected regions: 1p36, 2p16, 3p29, 9q22.3, 15q24, 17q21, 22q13 (Phelan-Mcdermid), 5p15 (Cri du Chat syndrome), 22q11 (DiGeorge syndrome), 10p15 (DiGeorge syndrome, region 2), 8q (Langer-Giedion syndrome), 17p (Miller-Dieker syndrome), NF1 region, Prader-Willi/Angelman region, Xq28, Rubinstein-Taybi syndrome region, Smith-Magenis syndrome region, 5q35.3 (Sotos syndrome), Wagr syndrome region, Williams-Beuren syndrome region, 4p16.3 (Wolf-Hirschhorn syndrome)

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

The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency.

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

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis.

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

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15 because the gene (s) on the maternal chromosome S) have virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting the Prader-Willi Syndrome region.

Test Details
Description:
Delivery Time:
2 weeks
Sample:
2-5 mL EDTA-Blood - Lavender Top Tube
Alternative:

Take a quick look at Prader-Willi Syndrome description.

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:

Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.

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

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:

Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by arrested development between 6 and 18 months of age, regression of acquired skills, loss of speech, stereotypic movements (classically of the hands), microcephaly, seizures, and mental retardation. Rarely, classically affected males with somatic mosaicism or an extra X chromosome have been described

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:

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

Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical distinction was often made between a classic 'type I' disorder and a more severe 'type II' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe.

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

Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase.

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

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