Test Name & Code:
• Test Name: ALPL Gene Deletion/Duplication Analysis
• Test Code: 5649
• Test Code: 5649
Related Diseases & Genes:
• “Hypophosphatasia, adult” (OMIM #: 146300) || Gene: ALPL (OMIM #: 171760)
• “Hypophosphatasia, childhood” (OMIM #: 241510)
• “Hypophosphatasia, infantile” (OMIM #: 241500)
• Odontohypophosphatasia (OMIM #: 146300)
• “Hypophosphatasia, childhood” (OMIM #: 241510)
• “Hypophosphatasia, infantile” (OMIM #: 241500)
• Odontohypophosphatasia (OMIM #: 146300)
Synonyms:
• “ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE”
• “ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC”
• TNSALP
• TNAP
• “ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC”
• TNSALP
• TNAP
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
