Test Name & Code:
• Test Name: ALPORT Syndrome
• Test Code: 3954
• Test Code: 3954
Related Diseases & Genes:
• “ALPORT SYNDROME, AUTOSOMAL DOMINANT” (OMIM #: 104200) || Gene: COL4A3 (OMIM #: 120070)
• “ALPORT SYNDROME, AUTOSOMAL RECESSIVE” (OMIM #: 203780) || Gene: COL4A4 (OMIM #: 120131)
• “ALPORT SYNDROME, X-LINKED; ATS” (OMIM #: 301050) || Gene: COL4A5 (OMIM #: 303630)
• “ALPORT SYNDROME, AUTOSOMAL RECESSIVE” (OMIM #: 203780) || Gene: COL4A4 (OMIM #: 120131)
• “ALPORT SYNDROME, X-LINKED; ATS” (OMIM #: 301050) || Gene: COL4A5 (OMIM #: 303630)
Synonyms:
-none-
Test Details:
• Methodology: Next Generation 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
• Multisystem Diseases
• Multisystem Diseases
