A rare disease is defined as any disease that affects a small percentage of the population. There may be as many as 7,000 rare diseases¹.

There are many different causes of rare diseases. The majority are thought to be genetic, they may be single-gene disorders or multiple-gene disorders, directly caused by changes in chromosomes or genes. In some cases, genetic changes that cause disease are passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed.

Rare disease disorder test

Many people live with various symptoms of a rare disease or disorder, even some patients with combination of signs and symptoms are difficult to pinpoint a potential diagnosis by clinician or doctor. One of the most common genetic test/ disorder test used to diagnose rare diseases is whole exome sequencing (WES) and SNP microarray analysis.

For more information about GGA WES

For more information about GGA SNP microarray analysis

Besides, there are many patients with suspected genetic conditions or unclear genetic diseases, GGA provides special medical services and targeted gene disorder test which are not listed in our Service page.

We have professional Genetic Counseling Team who can support and assist clinicians in identifying genetic risks, explaining appropriate testing options, interpreting test results, and helping clinicians to make accurate and precise healthcare decisions.

If you want to do the test, talk to your doctor/physician to order the test!

References:

1. Global Genes. 15 April 2016. Retrieved 15 April2016.