SNP/CGH Array

Rare Diseases

The SNP array is a genetic test primarily used to detect genetic variations across large DNA regions. It is employed to identify mutations that may be linked to hereditary diseases or genetic syndromes.

Overview

In Brazil, it is estimated that about 1 in 100 children are born with autism, following global prevalence patterns.

Source: www.cnnbrasil.com.br

Many children are only diagnosed with ASD between the ages of 4 and 5, when signs become more evident, but the most effective interventions are usually those carried out before the age of 3.

Source: www.scielo.br

The risk of miscarriage due to genetic causes increases with maternal age, especially in women over 35, due to a higher incidence of aneuploidies. In women over 40, the incidence of spontaneous miscarriages can reach 50%.

Source: www.scielo.br

When Should You Consider This Test?

Consider this test in the following cases:

Diagnosis of genetic syndromes

or hereditary diseases, particularly those involving chromosomal alterations or large deletions and duplications (e.g., microdeletion syndromes).

Analysis of developmental disorders

such as intellectual disabilities, autism, and developmental delay.

Investigation of infertility

and recurrent miscarriages.

Genes Analyzed

The panel covers:

The SNP array does not focus on specific genes but rather on large regions of the genome, analyzing hundreds of thousands to millions of SNPs (single nucleotide polymorphisms). This technology enables the detection of copy number variations (CNVs) across large sections of DNA, identifying deletions, duplications, and other structural variations.

Methodology

The methodology used for this test is as follows:

PREPARATION:

Blood: No fasting required.

Saliva: 30 minutes of total fasting.

TURNAROUND TIME:

Up to 28 days.

REQUIRED DOCUMENTS:

Medical request.

Sample:

Blood

Saliva

Type	Description
Technique	Microarray Hybridization (arrays)
Accuracy	99%

How to Request the Test?

Contact Our Customer Services

Exatus Gene will send a collection kit and provide instructions for sample collection.

We will retrieve the collected sample and send it to the laboratory for analysis.

The report will be made available through the SysGene Portal and sent to your email.

Adress

Main Office Rua Bento Gonçalves, 59, Room 802 — Centro, Marau, RS — 99150-000

Porto Alegre Office Rua Gomes Jardim, 301 , Room 918/909 — Santana, Porto Alegre, RS — 90620-130

Contact

Customer Service:
+55 (51) 9 8682-3206

Commercial:
comercial@exatusgene.com

Social Media:

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