Test Name & Code:
• Test Name: AR Deletion/Duplication Analysis
• Test Code: 4822
• Test Code: 4822
Related Diseases & Genes:
• Androgen insensitivity (OMIM #: 300068) || Gene: AR (OMIM #: 313700)
• “Androgen insensitivity, partial, with or without breast cancer” (OMIM #: 312300)
• “Hypospadias 1, X-linked” (OMIM #: 300633)
• Spinal and bulbar muscular atrophy of Kennedy (OMIM #: 313200)
• “Prostate cancer, susceptibility to” (OMIM #: 176807)
• “Androgen insensitivity, partial, with or without breast cancer” (OMIM #: 312300)
• “Hypospadias 1, X-linked” (OMIM #: 300633)
• Spinal and bulbar muscular atrophy of Kennedy (OMIM #: 313200)
• “Prostate cancer, susceptibility to” (OMIM #: 176807)
Synonyms:
• ANDROGEN RECEPTOR
• DIHYDROTESTOSTERONE RECEPTOR
• DHTR
• “NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 4”
• NR3C4
• DIHYDROTESTOSTERONE RECEPTOR
• DHTR
• “NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 4”
• NR3C4
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: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Dysmorphology
• Reproductive Genetics
• Inborn Errors of Metabolism
• Reproductive Genetics
• Inborn Errors of Metabolism
