Connective Tissues Disorders Panel

Connective Tissues Disorders Panel

  • A group of more than 200 genetic disorders is known to affect connective tissues (1). Connective tissue is the material between cells that not only gives tissues and organs form and strength, but is also involved in delivering nutrients to the tissue; in this context connective tissue plays a crucial role in the growth and functioning of those tissues and organs (2). Mutations in connective tissue genes can affect the structure and development of skin, bones, joints, organs, and blood vessels. Most connective tissue disorders are diagnosed based on symptoms identified during a physical examination, but a comprehensive analysis of the genes that could potentially be involved can help doctors diagnose the disorder and determine whether it could be inherited (3). Genetic testing is recommended for affected individuals to better understand their disease and to assess the risks for related family members.
  • Genes (39): ABCC6, ACTA2, ACVR1, ADAMTS2, ATP6V0A2, ATP7A, CBS, CHST14, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, MED12, MYH11, MYLK, NOTCH1, PKD2, PLOD1, PRDM5, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, and ZNF469
    Test Code: 6021
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Connective Tissues Disorders 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: 81401×1, 81405×3, 81406×2, 81407×1, 81408×5, 81479×27
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests: None
  • References:
    1. https://medlineplus.gov/connectivetissuedisorders.html
    2. http://www.niams.nih.gov/health_info/connective_tissue/
    3. http://www.merckmanuals.com/home/children-s-health-issues/hereditary-connective-tissue-disorders/overview-of-hereditary-connective-tissue-disorders

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