Test Name & Code:
• Test Name: Congenital Adrenal Hypoplasia Deletion Analysis
• Test Code: 3371
• Test Code: 3371
Related Diseases & Genes:
• “ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHCH” (OMIM #: 300200)|| Gene: NR0B1 (OMIM #: 300473)
• “46,XY SEX REVERSAL 2; SRXY2” (OMIM #: 300018)
• “46,XY SEX REVERSAL 2; SRXY2” (OMIM #: 300018)
Synonyms:
• DAX1
• “46,XY SEX REVERSAL, DAX1-RELATED”
• DOSAGE-SENSITIVE SEX REVERSAL; DSS
• AHC WITH ISOLATED GONADOTROPIN DEFICIENCY
• AHC WITH HHG
• CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA
• “46,XY SEX REVERSAL, DAX1-RELATED”
• DOSAGE-SENSITIVE SEX REVERSAL; DSS
• AHC WITH ISOLATED GONADOTROPIN DEFICIENCY
• AHC WITH HHG
• CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA
Test Details:
• Methodology: Microarray
• Performed: Everyday
• Reported: 3 weeks
• Performed: Everyday
• Reported: 3 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):
• Inborn Errors of Metabolism
