Complete Multiomic Genome

Rare Diseases

Complete Multiomic Genome

The Complete Multiomic Genome offers a comprehensive analysis of an individual’s entire DNA with enhanced detection of mitochondrial mutations and structural variation analysis not provided by conventional genome sequencing.

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 Should You Consider This Test?

Consider this test in the following cases:

Rare or Complex Genetic Disorders

When a conclusive diagnosis has not been achieved with other genetic tests, including exome sequencing or standard genome sequencing.

Conditions Associated with Mitochondrial Mutations

When there is a suspicion of mitochondrial diseases affecting cellular energy metabolism.

Multisystemic Diseases

For patients with symptoms affecting multiple organ systems, suggesting a complex or mitochondrial genetic cause.

Unexplained Family History of Genetic Conditions

To identify both nuclear and mitochondrial mutations that may be passed from one generation to another.

Cases Where Structural Variants or Genomic Rearrangements Are Suspected: When it is necessary to investigate large structural variations, deletions, duplications or complex rearrangements.

Genes Analyzed

The test sequences the entire human genome, which includes approximately 20,000 genes and about 3 billion base pairs of DNA. This covers 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 (e.g., CNVs and genomic rearrangements). It also includes the complete mitochondrial genome, which contains 37 genes involved in cellular energy production, and structural variations in the nuclear genome, such as CNVs (Copy Number Variations), large deletions, duplications, translocations, and inversions.

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:

Within 30 days.

REQUIRED DOCUMENTS:

Medical request (including medical report).

Type	Description
Technique	NGS + (SNV, INDEL, CNV)
Accuracy	99%
Variant Reclassification	Daily
Raw Data	Free – FASTQ, VCF, and BAM (request alongside the test).

Germline

Somatic

Rare Diseases