Test Name & Code:
• Test Name: Limb-Girdle 2D (SGCA Gene Sequence Analysis)
• Test Code: 4007
• Test Code: 4007
Related Diseases & Genes:
• “Muscular dystrophy, limb-girdle, type 2D” (OMIM #: 608099) || Gene: SGCA (OMIM #: 600119)
• “Adhalinopathy, primary” (OMIM #: )
• “Adhalinopathy, primary” (OMIM #: )
Synonyms:
• LGMD2D
• ADHALIN; ADL
• DYSTROGLYCAN 2; DAG2
• “DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 50-KD”
• muscular dystrophy
• ADHALIN; ADL
• DYSTROGLYCAN 2; DAG2
• “DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 50-KD”
• muscular dystrophy
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 weeks
• Performed: Everyday
• Reported: 2-3 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
