Endocrine Disorders Panel: Sequencing and CNV Analysis

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)

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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.


Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient's genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.

Copy Number Analysis: Comparative analysis of the NGS read depth (coverage) of the targeted regions of genes on this panel was performed to detect copy number variants (CNV). The accuracy of the detected variants is highly dependent on the size of the event, the sequence context and the coverage obtained for the targeted region. Due to these variables and limitations a minimum validated CNV size cannot be determined; however, single exon deletions and duplications are expected to be below the detection limit of this analysis.


Next Generation Sequencing: Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient\'s clinical/biochemical phenotype.

Analytical sensitivity for sequence variant detection is ~99%.

Copy Number Analysis: The sensitivity and specificity of this method for CNV detection is highly dependent on the size of the event, sequence context and depth of coverage for the region involved. The assay is highly sensitive for CNVs of 500 base pairs or larger and those containing at least 3 exons. Smaller (< 500 base pairs) CNVs and those that involving only 1 or 2 exons may or may not be detected depending on the sequence context, size of exon(s) involved and depth of coverage.

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

Oragene™ Saliva Collection Kit
Orangene™ Saliva Collection Kit used according to manufacturer instructions. Please contact EGL for a Saliva Collection Kit for patients that cannot provide a blood sample.
Collection and Shipping
Please do not refrigerate or freeze saliva sample. Please store and ship at room temperature.
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.
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.
  • Maturity Onset Diabetes of the Young Panel
  • Endocrine Disorders: Deletion/Duplication Panel

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