sgd test

Test Methods for Single Gene Disorders:

Sanger sequencing: For hotspot analysis and single gene sequencing.

Next-generation sequencing (NGS): For single gene sequencing and NGS-based copy number variation (CNV) analysis.

Deletion/duplication testing: Using MLPA or CMA to detect large deletions or duplications.

Single Gene Testing is Recommended for Patients with:

  • Distinctive clinical features.
  • Family history of a specific disorder.
  • Single gene disorders.
  • Potential epigenetic disorder.
  • Possible Triple repeat disorders.
  • Targeted carrier testing for family members.
Genetic Disease Affected Gene Consequences
Sickle Cell Anemia HBB gene Alters red blood cells' shape and function, leading to anemia and other complications.
Hemophilia Genes responsible for blood clotting factors (e.g., F8 for Hemophilia A,
F9 for Hemophilia B)
Impairs blood clotting, leading to abnormal bleeding and bruising.
Duchenne Muscular Dystrophy (DMD) DMD gene Causes progressive muscle degeneration and weakness, leading to physical disabilities.
Cystic Fibrosis (CF) CFTR gene Affects the respiratory and digestive systems, causing mucus buildup and impaired organ function.

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