Genomic Unity® Endocrinology Analysis

Test Description

Test Code – EA001

The endocrine system produces and secretes hormones that regulate metabolism, growth, development, and sexual and other bodily functions. Endocrine disorders can be caused by an imbalance in hormonal levels or an inability for the body to respond to a hormone. People often present with a wide range of clinical symptoms, as one bodily function can be regulated by multiple hormones or one hormone can regulate multiple bodily functions.

Genomic Unity® Endocrinology Analysis uses a whole genome sequencing platform to diagnose genetic endocrine disorders in 280 genes. 

When to order

Order this test when clinical symptoms are consistent with a suspected genetic endocrine disorder. You also have the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Exome Plus Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of endocrine-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants).
  • Copy number variant analysis of endocrine-associated genes (duplications/deletions, mobile element insertions, and inversions).

Optionally includes:

Included Genes

Note: The AR, ARX, INF2 and LRP5 genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The CEL and SHOX genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation.


This test covers many disorders including: 

  • Adrenal hypoplasia congenita 
  • Adrenoleukodystrophy 
  • Bardet-Biedl syndromes 
  • Glucocorticoid deficiency 
  • Growth hormone deficiencies
  • Hypercholesterolemia 
  • Hypogonadotropic hypogonadism syndromes
  • Hyperparathyroidism 
  • Hypothyroidism and resistance to thyroid hormone
  • Kallmann syndrome 
  • Liddle syndrome 
  • Mature onset diabetes of the young (MODY)
  • Monogenic obesity syndromes
  • Multiple endocrine neoplasias 
  • Primary ovarian insufficiency
  • Pseudohypoaldosteronism type I
  • Pseudohypoparathyroidism

Test Performance

Sensitivity for SNVs
 >  %
Specificity for SNVs
Positive predictive value for SNVs
Analytical sensitivity for structural variants

CPT Codes

881443, 81173, 81250, 81401 x2, 81403, 81404, 81405, 81406, 81407, 81408 x2, 81479

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Accepted Specimens



Specimen Requirements



Specimen Requirements



Specimen Requirements

Turnaround Time

A report will be issued within 4-8 weeks from receipt of all sample requirements.

Contact Us

Please contact customer service to request a kit.

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