Short stature can have either a non-genetic or a genetic etiology. Examples of non-genetic causes of short stature are malnutrition, infections, growth hormone deficiency and chronic diseases such as kidney disease and congenital heart disease. Examples of genetic causes of short stature are chromosome abnormalities such as Turner syndrome (45,X), epigenetic abnormalities such as aberrant methylation at 11p15.5 and uniparental disomy, as well as autosomal dominant, autosomal recessive and X-linked genetic defects. Short stature due to genetic causes can be an isolated finding or part of the clinical spectrum of a genetic syndrome.
This version of the short stature panel is comprised of a next generation sequencing (NGS) panel testing for syndromic and non-syndromic causes of short stature. For the complete version of the short stature panel, please see the Proportionate Short Stature/Small for Gestational Age Panel – Comprehensive webpage.
Please note that this panel only includes testing for SGA and non-SGA proportionate short stature subcategories and does not include testing for disproportionate short stature (e.g. skeletal dysplasias).
In addition, this panel does not include testing for growth hormone deficiency, which may be an integral part of the workup for an individual with short stature.
- Johnston Rohrbasser (2011). Horm Res Paediatr, 76: 13-16.
- Wit et al. (2011). Best Pract Res Cl En, 25:1-17.
- Individuals with a clinical diagnosis of short stature.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>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 ug
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.
- Individual sequencing analysis is available for the SHOX, NIPBL, SMC1A, CREBBP, EP300, DHCR7, KMT2D, PTPN11, RAF1, KRAS, SOS1, and FGD1 genes.
- Variations of this panel are available if previous genetic testing has been performed, including: -PSS/SGA Panel: Comprehensive-PSS/SGA Panel: EmArray Cyto + SNP & NGS-PSS/SGA Panel: Russell-Silver Panel & NGS-PSS/SGA Panel: NGS
- A next generation sequencing panel is also available for Noonan syndrome and related disorders.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Proportionate Short Stature/Small for Gestational Age: Deletion/Duplication Panel.