As a leader in providing genomics testing solutions in India, MedGenome recognizes that it’s imperative for a clinician to be enabled with the most accurate information and the deepest insights for providing better treatment outcomes. Through our GeKNOW hub, we give you the best and latest rich sets of information, you can learn about, and capitalize on the tremendous possibilities that our solutions can help you with.
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.
Why Recommend ACTIA for Patients with Genetic Metabolic Disorders?
Reasons for recommendation
- Molecular confirmation of a clinical diagnosis
- To differentiate between the genetic and non-genetic forms of the disorders
- To differentiate between X-linked and autosomal recessive or dominant forms of the disease
- Carrier detection: Once the molecular diagnosis of an affected child/adult is confirmed, family screening can be offered
- To provide valuable information to the patient and their family about future medical management
- Prenatal diagnosis in at-risk pregnancies
- Therapeutic implications
- Genetic counselling
MedGenome offers 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. Our 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 metabolic disorders.
Few panels have been listed below
- Congenital adrenal hyperplasia CYP21A2 (21-0H) deletion/ duplication analysis
- Congenital adrenal hyperplasia CYP21A2 (21-0H) gene analysis
- Congenital hypopituitarism gene panel
- Maturity-Onset Diabetes of the Young (MODY) & neonatal diabetes gene panel
- Kallmann syndrome gene panel
- Citrullinemia gene panel
- Fatty acid oxidation disorders gene panel
- Mucopolysaccharidosis gene panel
- Peroxisome assembly disorders (Hepatomegaly and cholestasis) gene analysis
- GLUT1 deficiency (SLC2A1) deletion/duplication analysis
- Glycogen storage disorder gene panel
- Lysosomal Disorders gene panel
- Metabolic Liver disorder 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.
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
MedGenome’s commitment to sharing knowledge related to Genes and Genomics
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 to our genetic experts for free today or reach us
Our certified genetic specialists are available right now to discuss your queries before, during and after screenings.