Complete Multiomic Exome

Rare Diseases

Complete Multiomic Exome

The Complete Multiomic Exome is an advanced whole-exome sequencing test that provides a more detailed and comprehensive analysis than the conventional Exome. It covers more complex variants that standard exome sequencing may not detect.

Overview

There are over 6,000 rare diseases affecting more than 300 million people worldwide.

Source: Estatísticas e fatos relevantes (Relevant statistics and facts).

Studies by the Brazilian Society of Endocrinology and Metabolism show that 80% of rare diseases have a genetic origin, meaning they are inherited from biological parents.

Source: SBEM-PR Informa – Cerca de 80% das Doenças Raras têm origem genétic (SBEM-PR Informa – Approximately 80% of Rare Diseases Have a Genetic Origin.)

75% of rare diseases affect children.

Source: SBEM-PR Informa – Cerca de 80% das Doenças Raras têm origem genética (SBEM-PR Informa – Approximately 80% of Rare Diseases Have a Genetic Origin.)

When to Consider This Test?

This test is recommended in cases such as:

Patients with undiagnosed symptoms

When other genetic tests have failed to provide conclusive results.

Patients with a family history of genetic disorders

To identify inherited mutations that may be the cause of the condition.

Patients with rare or complex genetic disorders

When a genetic condition is suspected but not detectable through smaller gene panels.

Patients with no clear diagnostic answers from standard genetic panels or exome tests

Patients with hereditary cancers

Requiring a more detailed analysis of regulatory regions or structural genome alterations.

Patients suspected of mutations in non-coding regions (intronic regions)

Genes Analyzed

The test sequences the entire human genome, which includes approximately 20,000 genes and about 3 billion DNA base pairs. This encompasses not only the coding regions of genes (exons) but also intronic (non-coding) regions, promoter regions, and other regulatory areas, as well as structural variants (such as CNVs and genomic rearrangements).

Methodology

The methodology used for this test is as follows:

Sample:

Blood

Saliva

PREPARATION:

Blood: No fasting required.

Saliva: 30 minutes of total fasting.

TURNAROUND TIME:

Results available within 35 days.

REQUIRED DOCUMENTS:

Medical requisition (including a medical report)

Type	Description
Technique	NGS + (SNV, INDEL, CNV)
Accuracy	99%
Variant Reclassification	Free of charge
Raw Data	Free – FASTQ, VCF, and BAM. (Request with the test)

Germline

Somatic

Rare Diseases