Test Name & Code:
• Test Name: CYP21A2 Deletion/Duplication Analysis
• Test Code: 4832
• Test Code: 4832
Related Diseases & Genes:
• “Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency” (OMIM #: 201910) || Gene: CYP21A2 (OMIM #: 613815)
• “Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency” (OMIM #: 201910)
• “Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency” (OMIM #: 201910)
Synonyms:
• “Cytochrome P450, Family 21, Subfamily A, Polypeptide 2”
• Steroid Cytochrome P450 21-Hydroxylase; P450C21
• CYP21A2 Mutations
• 21-Hydroxylase Gene Mutations
• 21-Hydroxylase Defect
• Steroid Cytochrome P450 21-Hydroxylase; P450C21
• CYP21A2 Mutations
• 21-Hydroxylase Gene Mutations
• 21-Hydroxylase Defect
Test Details:
• Methodology: MLPA
• Performed: Everyday
• Reported: 4 weeks
• Performed: Everyday
• Reported: 4 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):
• Inborn Errors of Metabolism
