Sample Receipts

  • Your sample is received by our laboratory. All samples and accompanying paperwork are checked over thoughly to ensure accuracy.

  • Test orders will be reviewed by our genetic counselor to ensure proper test selection

Sample Processing

  • Your sample is processed according to our laboratory guidelines.

Data Analysis

  • Our experienced technicians perform a thorough analysis of the raw data generated from your sample.
  • For diagnostic testing, sequencing variants are confirmed with Sanger sequencing.

Clinical Review

  • An in-depth review is performed for all qualifying variants including all relevant literature, databases, and prediction models.
  • Variants are then classified according to the 2015 ACMG guidelines and sorted into one of the following categories: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign or Benign.

Final Review

  • A comprehensive review is performed incorporating the available evidence, classification of variants, and patient clinical history.
  • Performed by our board-certified medical and molecular genetics directors.


  • Results are generated into a report including comprehensive summaries for any Pathogenic, Likely Pathogenic, and Variants of Uncertain significane that were found. Any Likely Benign variants found are also noted on the report.
  • Summaries include all available data including publications, external and internal database information, conservation data, and other relevant information.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.


October 28, 2022

Non-Hodgkin Lymphoma FISH Panel Now Available

B-cell lymphoma is a large group of heterogenous disorders and comprises a majority of non-Hodgkin lymphomas.
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October 20, 2022

Genetic testing for Familial Transthyretin Amyloidosis (TTR) NOW AVAILABLE In-House

Hereditary amyloidosis is a life-threatening disorder that can lead to peripheral neuropathy and heart failure.
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August 08, 2022

Familial hypercholesterolemia (FH)

Familial hypercholesterolemia (FH) is a genetic disorder that increases the likelihood of having coronary heart disease at a younger age. Learn about how to determine if you have hypercholesterolemia and what actions you can take to create better outcomes!

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April 11, 2022

Genome Sequencing: A Vital Tool Used in Identifying and Tracking New COVID-19 Variants

Genome sequencing is reading or decoding the complete genetic information i.e. “Genome” of an organism that is encrypted in the form of a very long string called DNA made up of 4 letters, A, T, G, and C. The genome of an organism essentially determines their physical characteristics and ...
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March 03, 2022

The Effect of Genetics on Individual Heart Health: Early Identification of FH Variations to Optimize Treatment

Test must be ordered by a Physician.

Familial hypercholesterolemia (FH) is a genetic disorder that is characterized by abnormally high blood levels of low-density lipoprotein (LDL) cholesterol, sometimes referred to as "bad cholesterol". This condition affects an estimated 1 in 250 people, and increases the likelihood of developing cardiovascular disease. In fact, FH is estimated to be the cause of 2-3% of heart attacks in individuals younger than age 60.

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