What are other Names for this Test? (Equivalent Terms)

• Next Generation Sequencing (NGS)
• Panel Testing
• Targeted Gene Panel Sequencing

What is Gene Panel Sequencing? (Background Information)

• Gene Panel Sequencing is a type of DNA sequencing, a specialized genetic testing technique used to detect chromosomal abnormalities that are too tiny to be detected using conventional microscopic studies
• It is also known as Next Generation Sequencing/Panel Testing. This type of sequencing focuses on a subset of specific genes, called targeted gene panels. Here, certain targeted areas of chromosomes where possible gene mutations may exist are selectively studied
• This technique also helps in analyzing several different gene sequences simultaneously in a simpler, faster, and cost effective manner
• Gene panels associated with the following conditions/disorders are commonly considered by healthcare professionals:
  • Cancers - in order to help diagnose the malignancy, come up with treatment options, and obtain better understanding of the outcomes
  • Mendelian diseases such as color blindness, cystic fibrosis, hemophilia, muscular dystrophy, phenylketonuria, sickle cell anemia, skeletal dysplasia, and thalassemia
  • Heart-related conditions
  • Neurodegenerative disorders
• Gene Panel Sequencing helps detect not only commonly known mutations, but also uncommon gene mutations that are known to cause (or are associated with) a certain specific condition

Note: Molecular testing has limitations due to the molecular method and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the Gene Panel Sequencing?

Following are the clinical indicators for performing the Gene Panel Sequencing analysis: 

• To study gene sequences - areas of potential concern (that the healthcare provider might suspect as being causative of the disorder)
• To assist (and in some cases, confirm) the initial diagnosis
• If there is a family history of the medical disorder/condition
• To help in determining treatment options and overall outcomes

How is the Specimen Collected for the Gene Panel Sequencing?

Following specimens may be collected for Gene Panel Sequencing analysis:

• Blood
• Saliva
• Cheek swab cells
• Formalin-fixed paraffin-embedded (FFPE)

The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.

• Process of obtaining the sample: As outlined by the laboratory testing facility
• Preparation required: As outlined by the laboratory testing facility

Cost of Gene Panel Sequencing:

• The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, out-of-network and in-network of your healthcare providers and healthcare facilities
• In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care that is necessary (if any)

What is the Significance of the Gene Panel Sequencing Result?

The results of the Gene Panel Sequencing analysis may indicate if any of the following chromosomal anomaly has taken place:

• Deletion/microdeletion
• Duplication/microduplication
• The genes involved/affected

Note: Although this test is more affordable than many other genetic tests (such as whole exome sequencing), the possibility of finding new (unsuspected) genetic disorders seems limited.

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test.

Please visit our Laboratory Procedures Center for more physician-approved health information:

http://www.dovemed.com/common-procedures/procedures-laboratory/