ClinExomMitoSure
Comprehensive Solution for Complex Genetic Disorders
3500+ Genetic disorders are screened by new advance ClinExomMitoSure panel.
Benefits of ClinExomSure :
- Clinical Exom Sequencing is targeted to protein coding regions of the genes related to the different genetic
- 5200 genes are sequenced on illumina NGS platform at the coverage of 150X.
- Helps in diagnosis of heterogeneous clinical conditions related to hereditary disorders
- Reports are well annotated and all variants are classified as per ACMG guidelines for variant interpretation
- Identified variant has been annotated against 10/12 databases which includes: HGMD 2018, ECGI-db lab, EMVClass-db, ClinVar, db-SNP & others
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Features |
ClinExomMitoSure |
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Sequencing region |
Clinical exome + Mitochondrial genome |
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No. of Disorders |
3550+ |
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Sequencing coverage |
>99% |
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Read depth |
ClinExom:150X & MitoSure 1000X |
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Analytical sensitivity |
>99% |
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TAT |
4 weeks |
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Comprehensive variant annotation & disease identification |
ECGI-db, |
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Technology Used |
Eurofins/EGL Technology & IGIB for MitoSure |
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Pathogenic |
A pathogenic variant which is a causative & driver mutation of the disease |
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Likely pathogenic |
A variant which is very likely to be a driver mutation for the disease |
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VOUS/Variant of unknown significance |
A variant associated with the disease but its significance is not known at present |
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Genes interpreted to be responsible for, or contributing to the patient’s clinical presentation |
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Book Free Pre & Post test Genetic Counseling by ECGI genetic counselors on ECGI mobile app |
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Indications:
- To identify the genetic cause of mendelian inherited disease
- g: Epilepsy, Global Developmental Delay, Autism, Skeletal Dysplasia, Congenital Abnormalities, Noonan Syndrome etc.
Report deliverables:
- Comprehensive variant reporting in context with patients clinical representation & medical history
- Recommendations for future management of the disease
- Provides information on various ethnic population available in public databases
Benefits of MitoSure
- Mitochondrial diseases are a group of heterogeneous diseases caused by dysfunction due to variation in mitochondrial genome
- The mitochondrion encodes for 37 genes and encompasses approx. 73 mtDNA functional loci and around 50 disease associations
- MitoSure is high throughput mitochondrial genome screening by NGS technology sequencing at 1000x with 9% sensitivity and specificity
- Sequencing of hundreds of mitochondria to identify the most commonly occurring disease with their heteroplasmy level
MitoSure
Common disorders detected
- Mitochondrial Encephalomyopathy
- Maternally Inherited Leigh Syndrome (MILS)
- Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS)
- Leber Hereditary Optic Neuropathy (LHON)
- Maternally Inherited Diabetes and Deafness (MIDD)
- Mitochondrial Cardiomyopathy
- Mitochondrial Myopathy
- Chronic Progressive External Ophthalmoplegia (CPEO)
Clinical Significance of ClinExomMitoSure
- Together this panel offers comprehensive solution to identify clinically significant genetic variation
- Common and rare 3550+ genetic disorders are screened in ClnExomMitoSure
- Gene analysis is customized for Indian population
- Largest database HGMD 2018, ECGI-db lab, EMV Class-db, CLinVar, db-SNP & others to annotate identified variant
Sample collection process:
- Informed consent from Patient Documentation
- Sample Collection: 5-10ml whole blood in EDTA tube,Tissue/POC, Saliva 10-50 mg, Buccal Swab etc.
- Transportation: Ship Sample within 24 hrs of Collection to ECGI Bangalore Lab.
- Turn Around time: 5 Weeks
Special instruction:
Please submit medical records or clinical history notes, and a signed consent form when ordering the testing. Testing will not be initiated until these documents are received.
