Skip to content
  • Spain
  • United Kingdom
  • Europe
  • United States
  • Japan
  • The Middle East
  • Brazil
  • Italy
  • Canada
  • India
  • China
  • Taiwan
  • Mexico
  • Perú
  • Russia
  • Chile
  • Argentina
  • Turkey
  • Middle East
    موقعك
  • Request Information 800 50342
    طلب معلومات 800 50342
  • Languages
    • You need Polylang or WPML plugin for this to work. You can remove it from Theme Options.
  • Request Information 800 50342
    طلب معلومات 800 50342
Middle EastMiddle East
  • We guide you
    • Fertility
    • Inherited diseases
    • Worry-free pregnancy
  • Reproductive Health
    • For Health Specialists
    • For Patients
  • Diagnostics
  • About us
    • Research & Igenomix Foundation
    • About Igenomix
  • COVID-19 WEBINARS
Genomics Precision Diagnostic > Epilepsy

Epilepsy

Aicardi-Goutieres syndrome gene panel
  • Overview
  • Indications
  • Genes & Associated Diseases

Coming Soon

Coming Soon

Coming Soon

For More Information Call our Geneticist: 800 50342

Neuronal migration disorder gene panel
  • Overview
  • Indications
  • Genes & Associated Diseases

Coming Soon

Coming Soon

Coming Soon

For More Information Call our Geneticist: 800 50342

Comprehensive epilepsy gene panel
  • Overview
  • Indications
  • Genes & Associated Diseases

Coming Soon

Coming Soon

Coming Soon

For More Information Call our Geneticist: 800 50342

Rett syndrome gene panel
  • Overview
  • Indications
  • Genes & Associated Diseases

Coming Soon

Coming Soon

Coming Soon

For More Information Call our Geneticist: 800 50342

Sample Requirements

For genetic testing through next generation sequencing, the following sample types are accepted. A thorough labelling of the tube with unique identifying information is suggested, incorrect labelling can lead to rejection of the sample. The minimum required information to identify and accept a sample is – Patient’s full name, Date of birth, Gender and Medical Record Number.

  • Maternal blood sample must be sent with all products of conception, CVS and Amnio samples.
  • Precedence will be given to all prenatal samples.

The ‘informed consent’ form and the ‘test requisition from’ (included within the provided kit) must be properly filled-in and signed by the patient and sent with the samples inside the shipping box or by e-mail to the laboratory. Igenomix will send you all the documents needed for the pick-up and transportation of the appropriate kit to our laboratory

Methodology

Limitations

The probes used for this test are designed to detect known genes in the curated panel. Therefore, this test is unable to detect genes not defined by the NCBI reference genome GRCh37 or non-human genome sequences including viral sequences or non-nuclear DNA that are designated in the specific panel.

In addition, due to the limitations of NGS technologies, the following variants cannot be readily detected: large deletions/duplications greater than 40 base pairs, copy number variations, homopolymer stretches, variants in pseudogene regions, gene fusions, balanced translocations, inversions, ploidy changes, uniparental disomy, and repeat expansion regions.

Furthermore, variants present outside the exons (non-coding region) could be missed; these variants can affect gene activity and protein production which may lead to genetic disorders. This technique does not cover the entire exome, (the % of bases with coverage above 20x is approximately 97%). It may not be possible to resolve certain details about variants such as mosaicism, phasing, or mapping ambiguity.

Analytical limitations may also occur due to the provided clinician information. Accurate and thorough clinical information of the patient(s) and family members is required as incomplete information may lead to false positive or negative results

Request a Geneticist call back
  • *

Download

Igenomix
Genomic Portfolio

Why Choose IGENOMIX?

High-Quality interpretation

Genetic counselling E-learning platform

Easy & Fast Online tests management

Local Labs over the Middle East

All Technical capabilities In-House

100% In-House sequencing and Bio IT

CAP & ISO accredited lab

Using international, population and
diseases Databases, including HGMD

Check Price

info.me@igenomix.net

00971 800 50342

Check out Whole Exome Sequencing “WES”

Do you have any questions?

  • *

WE GUIDE YOU

Fertility

Inherited diseases prevention

Healthy pregnancy

OUR SERVICES

Genetic solutions
For Patients
How to send a sample?
User manual

ABOUT US

About Igenomix

Contact

Press and news

Quality

Work with us

FOLLOW IGENOMIX

Blog: Path to fertility

  800 50342
  Write us
  • Spain
  • United Kingdom
  • Europe
  • United States
  • Japan
  • The Middle East
  • Brazil
  • Italy
  • Canada
  • India
  • China
  • Taiwan
  • Mexico
  • Perú
  • Russia
  • Chile
  • Argentina
  • Turkey
Language

[2019] © Igenomix Privacy policy Quality policy Legal note Cookies policy

Request Information


Download ERA eBook

Download EMMA eBook

Download ALICE eBook

Download NACE eBook

Download EndomeTRIO eBook

Download PGT-A eBook

Download POC eBook

Download SAT eBook

Download Oncodona eBook

Download Baby Gender eBook

Download WES eBook

Download PGT-M Brochure eBook

Download PGT-M Full Disease List eBook

Download WES Technical Sheet

Download WES eBook

Download WES Instructions eBook

Download SAT Clinical Sheets eBook

Download SAT Instructions eBook

Download Oncodona Brochure eBook

Download Oncodona Instructions eBook

Download PGT-A Technical Sheets eBook

Download PGT-A Brochure eBook

Download PGT-A Mitoscore eBook

Download PGT-A Instructions eBook

Download PGT-M Brochure eBook

Download PGT-M Technical Sheets eBook

Download PGT-M Instructions eBook

Download Baby Gender Step Guide eBook

Download Baby Gender Brochure eBook

Download ERA Technical Sheets eBook

Download ERA Brochure eBook

Download ERA Instructions eBook

Download ERA Instructions eBook

Download EMBRACE Clinical Sheets eBook

Download EMBRACE Brochure eBook

Download EMMA Technical Sheets eBook

Download EMMA Brochure eBook

Download EMMA Instructions eBook

Download ALICE Technical Brochure eBook

Download ALICE FAQ eBook

Download ALICE Infographic Brochure eBook

Download ALICE Brochure eBook

Download ALICE Instructions eBook

Download EndomeTRIO Clinical Sheets eBook

Download EndomeTRIO Brochure eBook

Download EndomeTRIO Infography eBook

Download EndomeTRIO Manual eBook

Download POC Technical Sheets eBook