Single ExomeXtra®

Full diagnostic power — no parental samples required

Single ExomeXtra® is designed for patients with complex, heterogeneous, or unspecific symptoms when parental samples are unavailable. It combines the depth of whole exome sequencing, the reach of whole genome sequencing, and the CNV detection of array CGH in a single test.

Is your patient insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!

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The Benefits of Our ExomeXtra® at a Glance

Better than exome

Detect 20% more disease-causing variants compared to standard WES

Smarter than genome

Deeper coverage where it counts — detecting variant classes that standard WGS does not reliably capture

CNV detection at array-CGH resolution

Genome-wide detection of deletions and duplications

Reports with direct clinical impact

Variants interpreted in context, with actionable recommendations — created by our interdisciplinary team

Service Details

Scope of Analaysis

All coding regions
<46,000 non-coding disease-associated regions (deep intronic, regulatory)
Non-coding RNA genes
Mitochondrial genome (mtDNA)
Upstream splice sites
Mosaic variant detection
Genome-wide CNV detection
Screening for relevant infections

Medical Report Includes

All relevant variant types: sequence variants (SNV, indel), small copy-number variants (CNV), and large aneuploidies – including mosaic variants
Variants of ACMG classes 3, 4, and 5 — classified and interpreted in the context of your patient’s phenotype
Variants of uncertain significance (VUS) further classified by likelihood of pathogenic effect
Direct recommendations for clinical management and further testing, where applicable
Assessment of genetic relevance for family planning Bearbeitet

Optional Add-On Services

Analysis of all ACMG genes
HLA typing
Pharmacogenetic analysis including dosing information

Sample Report

Our Standard Sample Requirements

1 ml–2 ml EDTA blood (recommended sample type)
Genomic DNA (1 µg–2 µg)
DBS cards, buccal swabs, or saliva are also possible

Here you can find more information on how to ship your sample safely.

Other sample material sources are possible on request. Please note: In case of insufficient sample quality, the analysis might fail. If you have more than one option of samples, please contact us (diagnostic-support@cegat.com) and we will assist you in choosing the optimal sample for your patient.

Diagnostic Process

You can find the entire diagnostic process here

Counseling & Test Selection

Sampling & Shipment

Sample Analysis

Medical Report & Counseling

Our Promise to You

Fast Turnaround Time

Typically 3–4 weeks after sample receipt

Safety

Highest confidentiality and quality standards

Reliability

Reliable support throughout all steps

Einfache grafische Darstellung eines Befund

Comprehensibility

Clearly prepared medical report

Further Information

5 years of ExomeXtra® with Dr. Florian Battke

The Evolution of ExomeXtra®

Webinar: Learn How We Can Help You Solve Complex Patient Cases

Downloads

Order Form ExomeXtra®

Download Order Form

Sample Report Single ExomeXtra®

Download Sample Report

Rare Disease Diagnostics Brochure

Download Brochure Rare Disease Diagnostics

Rare Disease Diagnostics Flyer (EN)

Download Flyer Rare Disease Diagnostics

Exome Diagnostics Tech Note (EN)

Download Tech Note Exome Diagnostics

What Is the Real Diagnostic Benefi t of Whole-Genome Sequencing?

Download Scientific Note The Real Diagnostic Benefit Of WGS

Contact Us

Do you have a question, or are you interested in our service?

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Diagnostic Support

We will assist you in selecting the diagnostic strategy – for each patient.