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Precision in diagnosis, including the identification of disease subtypes, directly influences treatment and patient outcomes. Understanding of pathology at a molecular level is critical for identification of many diseases and their subtypes.
Presenting ACTIA from MedGenome, delivering ACTIONABLE insights to enable happier outcomes. Actia provides an end-to-end integrated solution to clinical genomics in India and is highly focussed on the Indian population.
Neuro genetic disorders have always been prominent in clinical genetics practice and this has increased with the advent of molecular approaches. Next-generation DNA sequencing techniques have made it possible to examine a large number of possible disease genes in a single reaction, which was impossible by previous methods. This has resulted in rapid identification of genes involved in Mendelian disorders. Thus a more precise diagnosis of many neurological disorders is now possible, and genetic testing can be considered earlier in the diagnostic procedure.
Genetic Neurological Disorders
An estimated over 30 million people suffer from neurological disorders in India (excluding neuro infections and traumatic injuries)*. Neurological disorders are often Chronic, Progressive and Debilitating, and their phenotypes are genetically very heterogeneous.
The four means to guide clinical classification in Genetic neurological disorders (GNDs) are:
- The earliest clinical signs refer to neuro anatomical region or pathology specific to that disease
- The age of onset for the clinical signs and symptoms
- The mode of inheritance
- Other extra-neural signs and symptoms, such as the presence of specific signs involving the eyes, skin, connective tissues, or visceral organs, etc.
- 6 to 8 million people estimated with epilepsy in India with a prevalence of 5.7 per 1000
- Most prevalent at each end of the age spectrum - the very young and the very old
- Can be Syndromic or Non-Syndromic
- Example: Benign familial infantile seizures (BIFS); Lennox-Gastaut syndrome
Neuro Cutaneous Disorders
- Neurological disorders that have cutaneous manifestations
- Are lifelong conditions that can cause tumors to grow inside the brain, spinal cord, organs, skin, and bones
- Example: Tuberous sclerosis (TS); Neurofibromatosis (NF)
Neuro Muscular Disorders
- Disorders that affect the peripheral nervous system
- Principle effect is on the ability to perform voluntary movements
- Include some of the most devastating disorders that afflict mankind
- Example: Limb Girdle Muscular Dystrophy; Spinal Muscular Atrophy; Duchenne Muscular Dystrophy
Neuro Degenerative Disorders
- Involves the progressive loss of structure or function of neurons, including death of neurons
- Can be serious or life-threatening
- Example: Adrenoleukodystrophy; Canavan disease
Neuro Metabolic Disorders
- Neurological manifestations are the prominent signs and symptoms of in born errors of metabolism
- Characterized by a lack or dysfunction of an enzyme or vitamin necessary for a specific chemical reaction in the body
- Mostly are presented in newborns and infants
- Example: Maple Syrup Urine Disease, Neuronal ceroid lipofuscinosis, Krabbe disease
- Characterised by excess or a paucity of movement that is not connected to weakness, paralysis or spasticity of the muscles
- Affect the speed, fluency, quality and ease of movements
- Often associated with poor coordination of hands, speech, and eye movements
- Clinical presentation is complex, often variable, and sometimes even bizarre
- Example: Spinocerebellar ataxia; Tourette’s syndrome; Juvenile Parkinsonism
- Clinically heterogeneous group of genetic disorders arising due to mutations in mitochondrial DNA, or nuclear DNA coding for mitochondrial components
- Difficult to diagnose, because it affects each individual differently
- Symptoms can include seizures, strokes, severe developmental delays, inability to walk, talk, see, and digest food combined with a host of other complications
- Example: Mitochondrial myopathy; Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
Why Recommend ACTIA For Patients With Genetic Neurological Disorders?
A broad range of pre-designed gene mutation panels which have been developed with in-depth disease understanding of the genetic disorder incorporating the latest research in that particular domain.
New updated technologies, helpful customer service, and clear result interpretation along with counselling sessions with our Genetic Counsellors, make us equipped to provide you the best available support for your patients and families with inherited ophthalmic disorders.
- Muscular dystrophy & congenital myopathy gene panel
- Comprehensive Neurology Panel
- Duchenne Muscular Dystrophy (DMD) deletion/duplication analysis;
- NeuroMit (Whole mitochondrial genome sequencing & Neurology gene panel)
- Spinocerebellar ataxia repeat expansion analysis: SCA1, SCA2, SCA3, SCA6, SCA7, SCA10, SCA12
- ExomeMit (Whole mitochondrial genome sequencing & Clinical Exome panel)
- Dravet syndrome (SCN1A) deletion/duplication analysis
- Tay-Sachs disease (HEXA) deletion/duplication analysis
- Aicardi-Goutieres syndrome gene panel
1.Next Generation Sequencing (NGS)
Using genomic DNA extracted from blood, the coding regions of all the genes are captured and sequenced simultaneously by NGS technology on an Illumina platform. The sequence data that is generated is aligned and analyzed for sequence variants.
2.Multiplex ligation-dependent probe amplification (MLPA)
Deletion and duplication analysis of genomic DNA is carried out by MLPA. This method allows for the amplification of multiple targets with only a single primer pair.
3.Fragment analysis PCR for Repeat expansion analysis
These rely on detection of changes in the length of a specific DNA sequence to indicate the presence of repeat expansions.
Test sample requirements
- Relevant clinical information including all the clinical presentations and symptoms
- Test request form (TRF)
- 4 weeks for NGS
- 3 weeks for MLPA
- 3 weeks for Sanger sequencing
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Free Genetic Counselling
ACTIA offers all your patients FREE pre & post-test genetic counselling with our expert and certified genetic counsellors.
Best available support for your patients and families via
- Latest technologies
- Helpful customer service
- Clear result interpretation
- Counselling sessions with our Genetic Counsellors
Our representative will get in touch with you within 24 hours to help you with the registration. You can start prescribing the test right away and help your patients gain clarity about their genetic health.
Talk with one of our Genetic experts for free today
Our certified genetic specialists are available right now to discuss your queries before, during and after screenings.