Familial Variant Testing

Rare Diseases

Familial Variant Testing

Familial variant testing is a genetic test performed on family members to determine whether they carry a specific genetic mutation (variant) that was previously identified in a relative. This type of test is primarily used when a hereditary genetic condition has been diagnosed in a relative, and there is concern that other family members may also be carriers or develop the same condition.

Overview

It is estimated that approximately 70,000 people worldwide are affected by a mutation in the CFTR gene, which causes Cystic Fibrosis.

Source: bvsms.saude.gov.br

1 in every 27 Ashkenazi Jews is a carrier of the Tay-Sachs mutation, which is a fatal neurodegenerative disorder caused by the absence of an enzyme necessary for breaking down fatty substances in the brain.

Source: www.msdmanuals.com

5% to 10% of rare genetic diseases have some form of effective treatment available.

Source: NORD (National Organization for Rare Disorders) Report, 2020.

When Should You Consider This Test?

Consider this test in the following cases:

First-degree relatives

(children, siblings, and parents)

Second-degree relatives

(depending on the severity and inheritance pattern of the condition)

Families with Multigenerational Diseases

Couples in Family Planning

Genes Analyzed

The panel includes:

Specific point mutation already identified in the proband.

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 30 calendar days

REQUIRED DOCUMENTS:

Medical request and report from the relative with the known mutation.

Sample:

Blood

Saliva

Type	Description
Technique	Sanger, PCR, or NGS depending on the variant

Germline

Somatic

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