Eurofins Clinical Genetics >> Genetic Services >> ClinExomMitoSure

ClinExomMitoSure

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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

 

Features

ClinExomMitoSure

Sequencing region

Clinical exome + Mitochondrial genome

No. of Disorders

3550+

Sequencing coverage

>99%

Read depth

ClinExom:150X & MitoSure 1000X

Analytical sensitivity

>99%

TAT

4 weeks

Comprehensive variant annotation & disease identification

ECGI-db,
EMVClass-db, HGMD, ClinVar, db-SNP & others

Technology Used

Eurofins/EGL Technology & IGIB for MitoSure

Pathogenic

A pathogenic variant which is a causative & driver mutation of the disease

Likely pathogenic

A variant which is very likely to be a driver mutation for the disease

VOUS/Variant of unknown significance

A variant associated with the disease but its significance is not known at present

Genes interpreted to be responsible for, or contributing to the patient’s clinical presentation

Book Free Pre & Post test Genetic Counseling by ECGI genetic counselors on ECGI mobile app

 

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.