Endocrine Disorders: Deletion/Duplication Panel

Condition Description

The Endocrine Disorders Panel primarily tests for two broad categories of endocrine disorders: (1) disorders of sexual development (DSD) and hormone production, and (2) transient or permanent neonatal diabetes mellitus (NDM) and maturity onset diabetes of the young (MODY). DSD may manifest in infancy with ambiguous genitalia or at puberty when atypical sexual development occurs. DSD include such things as hypogonadotropic hypogonadism (with or without anosmia), premature ovarian failure or ovarian dysgenesis, and congenital adrenal hyperplasia. DSD are important to diagnose early for proper treatment and management of these conditions. NDM and MODY are genetically heterogeneous disorders. A molecular genetic diagnosis is critical, since some monogenic diabetes can be treated with sulfonylureas, instead of requiring life-long insulin therapy.

  • Ellard et al., 2013 Diabetologia 56:1958-1963.
  • Bonnefond et al., 2010 PLoS ONE 5(10):e13630.
  • Hughes et al., 2013 Endocrine abstracts 33: P48.

Genes (57)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.


This test is indicated for:
  • Confirmation of a clinical diagnosis of disorders of sexual development.
  • Confirmation of a clinical diagnosis of disorders of hormonal imbalance.
  • Confirmation of a clinical diagnosis of neonatal diabetes mellitus.
  • Confirmation of a clinical diagnosis of mature onset diabetes of the young.


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.


Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
  • Endocrine Disorders: Sequencing Panel
  • Maturity Onset Diabetes of the Young Panel

How to Order

Requisition Forms