Endocrinology Genetic Panel
Hereditary endocrine disorder screening
What is this test?
Our Endocrinology Genetic Panel screens over 150 genes involved in hereditary endocrine conditions — from thyroid disorders and adrenal insufficiency to multiple endocrine neoplasia (MEN) syndromes and disorders of calcium metabolism. A definitive genetic diagnosis can transform clinical management and enable proactive screening for at-risk family members.
Key Benefits
Identifying MEN1, MEN2A, or MEN2B mutations early allows proactive tumor surveillance, potentially preventing life-threatening complications.
Certain endocrine conditions have genotype-specific management — for example, RET mutation carriers may benefit from prophylactic thyroidectomy.
A positive result enables targeted cascade testing, so at-risk relatives can be identified before symptoms appear.
Many endocrine conditions overlap clinically. Genetic testing can pinpoint the underlying cause when biochemical tests are inconclusive.
How It Works
Your endocrinologist or geneticist determines testing is appropriate based on clinical and family history.
A blood sample is drawn at your clinic or an approved collection site.
DNA is extracted and 150+ endocrine-related genes are sequenced with deep coverage on Illumina platform.
Molecular geneticists classify variants using ACMG/AMP guidelines with endocrine-specific knowledge bases.
A detailed report is sent to your physician with actionable findings and surveillance recommendations.
Who should consider this test?
- Individuals with a family history of endocrine tumors or multiple endocrine neoplasia
- Patients with unexplained hormonal imbalances or early-onset endocrine disease
- Those with recurrent thyroid nodules or medullary thyroid carcinoma
- Families with a history of pheochromocytoma or paraganglioma
- Patients with disorders of sexual development or ambiguous genitalia
Conditions Screened
Accuracy & Clinical Evidence
>99% analytical sensitivity for coding variants in targeted genes
Genetic testing for MEN syndromes is considered standard of care by the American Thyroid Association. Prophylactic thyroidectomy in RET mutation carriers has been shown to prevent medullary thyroid carcinoma when performed at the recommended age based on mutation risk category.
Scientific Detail
Sequencing covers all coding exons and ±20 bp flanking intronic regions. Variant calling uses GATK HaplotypeCaller with annotation from ClinVar, HGMD, and population databases (gnomAD). The CYP21A2 gene receives special bioinformatic treatment due to its highly homologous pseudogene CYP21A1P.
For Healthcare Providers
This panel sequences 150+ genes implicated in hereditary endocrine disorders using Illumina platform chemistry. Mean coverage exceeds 100x with >98% of target bases at ≥20x. CNV detection via read-depth analysis is included for key genes (e.g., CYP21A2). Reflexing to deletion/duplication-specific assays is available.
Important Limitations
- CYP21A2 gene analysis may have reduced sensitivity due to its pseudogene; MLPA confirmation is recommended for suspected 21-hydroxylase deficiency.
- Variants of uncertain significance may be reported and may require follow-up or reclassification.
- Epigenetic and somatic changes are not detected by this germline panel.
- Large structural rearrangements may require additional cytogenetic testing.
- This panel does not cover all genes potentially involved in rare endocrine conditions.
Frequently Asked Questions
Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
Get Started