HomeHealth articlesgenetic testingWhat Are the Genetic Tests Done for Uncommon Skin Conditions?

Genetic Tests for Uncommon Skin Conditions - Types, Benefits, Risks, and Limitations

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Genetic testing for skin disorders helps to predict the risks for skin tone, texture, inflammation, allergic reactions, etc. Read this article to know more.

Written by

Dr. Swathi. R

Medically reviewed by

Dr. Nidhin Varghese

Published At December 28, 2022
Reviewed AtFebruary 3, 2023

Introduction:

Skin is the largest organ in the body. It acts as a first-line barrier in preventing diseases and has a crucial role in a person's appearance. But sometimes, skin diseases can affect the patient's health. Besides diet, hygiene, liquid intake, physical activity, and environmental factors, genes also play an essential role in deciding the skin's overall health. Patients having a family history of skin diseases must get a DNA skin test. That also gives the doctor the best approach to plan for treating possible skin diseases in advance. DNA test for the skin health of an individual is tested for analyzing the health. The skin DNA (deoxyribonucleic acid) test helps to determine the following:

  • Skin tone, color, and texture.

  • Skin aging.

  • Photosensitivity (skin's sensitivity to sunlight).

  • Susceptibility to develop acne and pimples.

  • Susceptibility to inflammation and skin allergies.

  • Nutritional requirements for ideal skin health.

What Is Genetic Testing?

Genetic testing is a medical test that identifies the changes in genes, chromosomes, or proteins. These results of genetic tests can also confirm or rule out a specific form of a suspected genetic condition or help to determine a person's chance of developing or passing a genetic disorder. Genetic testing involves looking for changes such as,

  • Genes: Gene tests study DNA sequences and help identify variations (mutations) seen in genes that will cause or increase the genetic disorder's risks. They can be narrow gene tests or large in scope, analyzed as an individual DNA building block (nucleotide), with one or more forms of genes, or all of a person's DNA (known as their genome).

  • Chromosomes: Chromosomal genetic tests analyze whole chromosomes that cause a genetic condition.

  • Proteins: Biochemical genetic tests study the activity level of the proteins or enzymes, and abnormalities seen in either can indicate the changes to the DNA that result in a genetic disorder.

What Were the Different Types of Genetic Tests?

Many genetic tests are available to analyze the changes in genes, chromosomes, or proteins. A healthcare provider will consider several factors while selecting the appropriate test, including the suspected condition or conditions and the genetic variations typically associated with those conditions. For example, a test that can look at many genes or chromosomes may be used if a diagnosis is unclear. However, this may do a more focused test if a specific condition is suspected. There were several types of genetic tests:

Molecular Tests: Looks for the changes in one or more genes. The following molecular tests are done:

  • Targeted Single Variant - This test looks for a specific variant in one gene. It is used to test family members of someone known to have a particular form of variant forms to determine whether they have a familial condition.

  • Single Gene - This test looks for any genetic changes in one gene. It is used to confirm a specific diagnosis.

  • Gene Panel - This test looks for variants in more than one gene. This test is often used to pinpoint a diagnosis when a patient has symptoms that may fit various conditions.

  • Whole Exome Sequencing or Whole Genome Sequencing - These tests may help analyze the bulks of an individual's DNA to find genetic variations. It is used when a single gene or panel testing has not provided a diagnosis.

Chromosomal Tests: Analyze the whole chromosomes or long lengths of the DNA to identify large-scale changes.

Gene Expression Tests: When the genes are turned on or off in different types of cells. This test study was used to determine which genes are active. Too much activity or too little activity of specific genes can be suggestive of particular genetic disorders.

Biochemical Tests: They do not directly analyze the DNA but study the activity level of proteins or enzymes produced from genes.

What Can One Get In Skin Deoxyribonucleic Acid (DNA) Test?

The skin DNA test is non-invasive and requires the patient’s spit or saliva sample. It evaluates the risks associated with skin health and appearance and includes the following:

  • Oxidative Stress - This reveals the risks of an increased oxidant level that causes stress on the body's antioxidant defense system.

  • Skin Texture - This provides information about genetic risks associated with skin texture parameters such as smoothness, firmness, elasticity, and healing.

  • Biological Aging - It helps in predicting the genetic predisposition for early aging of the skin biologically.

  • Skin Photo Aging - Reveals the risks of sun sensitivity development of freckles and wrinkles.

  • Inflammation Response - For predicting the genetic risks for skin inflammation that result from chemical exposure and the other environmental factors, like allergies, dryness, rashes, etc.

  • Cellulite Formation - The subcutaneous cellulite formation and the deposition are genetic risks found in many forms, which can be predicted using this specific test.

  • Stretch Marks - Prediction of the proneness to develop the stretch marks.

  • Acne Formation - Identifies the susceptibility cause of an individual that develops acne.

  • Pollution Effect - Risk of developing a skin condition due to pollution.

  • Sugar or Glycation Effect - Predicts the risks of the formation of glycation products in accelerated skin aging and determines the skin's self-repair.

  • Micronutrient Requirements - Provides information on the risks of micronutrient imbalance to optimize the diet for healthy skin.

What Are the Uses of Genetic Testing?

Genetic testing provides information about a person's genetic background. The uses of genetic testing include:

  • Newborn Screening: It is used after birth to identify genetic disorders that are identified early in life and can be treated earlier.

  • Diagnostic Testing: Used to identify or rule out specific genetic or chromosomal conditions.

  • Prenatal Testing: Used to detect the changes in the fetal genes or chromosomes before birth during pregnancy.
  • Preimplantation Testing: Also called preimplantation genetic diagnosis, it is a specialized technology that can reduce the risks of having a child with a particular form of genetic or chromosomal disorder.
  • Predictive and Presymptomatic Testing: These tests are used to detect gene mutation associated with disorders that appear after birth, which often later in life.

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Dr. Nidhin Varghese
Dr. Nidhin Varghese

Dermatology

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