Short Stature Panel

Short Stature Panel

  • Short stature is defined as a standing height more than 2 standard deviations below the age- and gender-specific mean height. Skeletal maturation is typically determined by the bone age using anteroposterior radiography on the left hand and wrist. Causes of short stature can be divided into 3 categories, chronic disease, familial inheritance, and constitutional delay of growth and development. The familial inheritance of short stature is predicted by an appropriate familial pattern (1). There are a multitude of rare genetic causes for severe short stature. Familial short stature is most often a normal variant and the individuals affected usually have a normal growth velocity. Genetic disorders have prominent effects on growth and usually present with short stature as the initial clinical manifestation (2).
  • Genes (32): ACAN, ANKH, ANO5, B3GAT3, BLM, CREBBP, DHCR7, EP300, FGD1, GHRHR, GHSR, GRHL2, GSC, HESX1, ICK, KRAS, LHX4, LTBP3, NBAS, NIPBL, NPR2, PITX2, POC1A, POU1F1, PROP1, PTPN1, PTPN11, RAF1, SMC1A, SOS1, THRB, and XRCC4
    Test Code: 6075
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Short Stature Panel
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 4 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81404×1, 81405×4, 81406×4, 81407×1, 81479×22
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests: None
  • References:
    1. http://emedicine.medscape.com/article/924411-overview
    2. http://www.uptodate.com/contents/causes-of-short-stature

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