Endocrine Disorders: Sequencing Panel
Test Code: 1491
Turnaround time: 6 weeks
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.
ABCC8, AGPAT2, AKT2, BLK, BMP15, BSCL2, CHD7, CIDEC, CISD2, CYP17A1, CYP19A1, EIF2AK3, FGF8, FGFR1, FIGLA, FOXP3, FSHR, GATA6, GCK, GDF9, GLIS3, GNRH1, GNRHR, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KISS1, KISS1R, KLF11, LHCGR, LMNA, NEUROD1, NOBOX, NR0B1, NR5A1, NSMF, PAX4, PDX1, POR, PPARG, PROK2, PROKR2, PSMC3IP, PTF1A, PTRF, RFX6, SLC2A2, TAC3, TACR3, TBC1D4, WFS1, ZMPSTE24
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 mean 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.
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. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical/biochemical phenotype.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements: In EDTA (purple top) tube: Infants (2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements: In microtainer: 60 μg
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Maturity Onset Diabetes of the Young Panel