PreventionGenetics’ Comprehensive Menu of Endocrinology Genetic Tests Helps You Treat Patients with Common or Rare Conditions
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No two days are alike when you’re working in endocrinology, and pinpointing exactly what’s causing your patient’s symptoms can be challenging. Genetic testing is a powerful tool for confirming diagnoses and planning treatment options.
PreventionGenetics has a comprehensive endocrinology test menu that meets the needs of patients with a broad range of conditions—from diabetes and obesity to rare disorders like hyperinsulinism and congenital adrenal hyperplasia.
Choose the Best Endocrine Genetic Test (We Can Help!)
With PreventionGenetics, choosing the right genetic test can be simple. Dig into specific genes being tested, testing strategy, and clinical features for each condition on the test description web page.
Here are a few tests from our predefined endocrinology test menu:
• Congenital Adrenal Hyperplasia (CAH) Genetic Test
• Maturity Onset Diabetes of the Young (MODY) Genetic Test
• Comprehensive Monogenic Obesity Panel
• Hyperinsulinism Genetic Test
• Premature Ovarian Failure (POF) Panel
Discover sponsored testing programs endocrinology patients might qualify for here.
For even more testing options, you can design custom panels to follow your own gene testing plans.
Genetic counselors on staff are here to provide more information about each test and answer questions. Talk to an expert about your genetic testing options.
Genetic Testing You Can Trust—on Even the Most Challenging Genes
PreventionGenetics is a highly respected lab with a 20-year legacy. We go above and beyond to ensure each test is done thoroughly and correctly.
Most of our endocrine panels utilize next-generation sequencing (NGS) with copy number variant (CNV) detection, using either our PGxome® (exome sequencing) or PGnome® (genome sequencing) platform.
In cases in which panel testing is nondiagnostic, you can use the same sample to reflex to whole exome sequencing or whole genome sequencing (depending on the original testing platform).
In some cases, testing by NGS may not always be the preferred testing methodology, particularly for highly complex genes such as CYP21A2. Using our integrative (“one-stop”) CYP21A2 testing strategy via Sanger sequencing, our detection rate of pathogenic variants is expected to be equal to what multi-method strategies yield, which is approximately 98%.1,2,3,4
Selected Research on Endocrinology Genetics
Read some of what PreventionGenetics’ PhDs have published in the field of endocrinology:
• Genetics of Congenital Adrenal Hyperplasia
• Characterization of VHL promoter variants in patients suspected of von Hippel-Lindau disease.
• Evidence for genetic anticipation in von Hippel-Lindau syndrome.
• Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.
• Broadening the spectrum of Ehlers Danlos syndrome in patients with congenital adrenal hyperplasia.
Start Today
With expert, trustworthy genetic testing, you can shorten the diagnostic journey, find the most effective treatments, and provide patients—and their families—with the information they need about both common and rare genetic conditions. Explore our endocrinology test menu.
For questions regarding test selection, ordering, or results interpretation, our staff genetic counselors would be happy to assist. Contact us via chat, phone, or email.
References:
1. Krone et al. 2000. PubMed ID: 10720040
2. Stikkelbroeck et al. 2003. PubMed ID: 12915679
3. Finkielstain et al. 2011. PubMed ID: 20926536
4. Krone et al. 2013. PubMed ID: 23337727.