Connective Tissue Gene Tests uses complementary methodologies to attain the most sensitive mutation detection rates possible.


CTGT performs DNA sequencing tests for hundreds of disorders. Years of experience with DNA sequencing for molecular diagnostics ensures very high test sensitivity. All coding exons and exon boundaries of the targeted genes are covered. Coverage typically extends from 40 nucleotides prior to the start of an exon (-40) to 20 nucleotides past the end of an exon (+20). Minimum coverage is -3 to +6.

Sanger Sequencing
Targets are amplified by PCR and sequenced using ABI3730 sequencers. Proprietary custom designed software is used to identify sequence variants. All potentially pathogenic variants are confirmed by additional Sanger sequencing. Sanger sequencing is considered the gold standard for mutation detection and is highly sensitive for the detection of point mutations, splice site mutations, and small insertions and deletions.
Next Generation Sequencing

CTGT also offers Next Generation Sequencing (NGS) panels using the SureSelect and Illumina MiSeq platforms. NGS provides high throughput sequencing of many genes simultaneously and is useful for disorders associated with multiple genes.

CTGT utilizes advanced technology and innovative, custom-designed software to perform next generation sequencing tests.  Our next generation sequencing panels provide Sanger quality data with a rapid turn-around time at reduced cost. CTGT offers 100% coverage of targeted exons and exon boundaries, for the detection of insertions and deletions, and complete selectivity in the presence of pseudogenes.

All coding exons and exon boundaries of the genes on the panel are captured using SureSelect target enrichment. The products are sequenced on an Illumina MiSeq and proprietary, custom designed software is used to identify sequence variants. Exons that are not completely covered by at least 40 NGS reads are sequenced using Sanger sequencing.  Additionally, all potentially pathogenic sequence variants identified by NGS are confirmed by Sanger sequencing. Similar to Sanger sequencing, this method will detect point mutations, splice site mutations, and small insertions and deletions.


NGS based methodology is used for copy number variation (CNV) analysis. The methodology has a high resolution, and an extremely high degree of specificity and sensitivity. CNV detection limit is typically a single exon.

CTGT remains actively involved in evaluating new methodologies for mutation detection. These methodologies will be considered for introduction if they are proven to be reliable, accurate and superior or complementary to existing technology.

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.

What's New

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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October 13, 2021 A New Website Experience

We've refreshed our look and feel to better meet your needs. 

CTGT's new website is not only user-friendly but also provides more advanced test search capabilities, additional methodologies, and a clean design suited for multi-platform usage.

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September 28, 2021

9 New Tests for Genetic Carrier Screening Panels

CTGT is now offering 9 NEW tests for Genetic Carrier Screening. 
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September 25, 2021

New York State Clinical Laboratory Permit Approval

CTGT is proud to announce that its CLIA licensed and CAP-accredited Pennsylvania laboratory has earned a New York State Department of Health clinical laboratory permit to perform genetic testing for patients residing within the state of New York. 
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