Test Name & Code:
• Test Name: AVPR2 Sequencing
• Test Code: 4016
• Test Code: 4016
Related Diseases & Genes:
• “Diabetes insipidus, nephrogenic” (OMIM #: 34800) || Gene: AVPR2 (OMIM #: 300538)
• Nephrogenic syndrome of inappropriate antidiuresis (OMIM #: 300539)
• Nephrogenic syndrome of inappropriate antidiuresis (OMIM #: 300539)
Synonyms:
• ARGININE VASOPRESSIN RECEPTOR 2
• ANTIDIURETIC HORMONE RECEPTOR; ADHR
• VASOPRESSIN V2 RECEPTOR; V2R
• “DIABETES INSIPIDUS, NEPHROGENIC, TYPE I”
• NDI
• “DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED”
• ANTIDIURETIC HORMONE RECEPTOR; ADHR
• VASOPRESSIN V2 RECEPTOR; V2R
• “DIABETES INSIPIDUS, NEPHROGENIC, TYPE I”
• NDI
• “DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED”
Test Details:
• Methodology: DNA Sequencing
• 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
• Neurogenetics
• Inborn Errors of Metabolism
• Neurogenetics
• Inborn Errors of Metabolism
