Test Name & Code:
• Test Name: STARGARDT Disease
• Test Code: 3953
• Test Code: 3953
Related Diseases & Genes:
• STGD1 (OMIM #: 248200) || Gene: ABCA4 (OMIM #: 601691)
• STGD3 (OMIM #: 600110) || Gene: CNGB3 (OMIM #: 605080) || Gene: ELOVL4 (OMIM #: 605512)
• STGD3 (OMIM #: 600110) || Gene: CNGB3 (OMIM #: 605080) || Gene: ELOVL4 (OMIM #: 605512)
Synonyms:
• “MACULAR DEGENERATION, JUVENILE”
• “FUNDUS FLAVIMACULATUS, INCLUDED; FFM, INCLUDED”
• “Macular degeneration, juvenile”
• “MACULAR DYSTROPHY WITH FLECKS, TYPE 1”
• STARGARDT DISEASE 3; STGD3
• “FUNDUS FLAVIMACULATUS, INCLUDED; FFM, INCLUDED”
• “Macular degeneration, juvenile”
• “MACULAR DYSTROPHY WITH FLECKS, TYPE 1”
• STARGARDT DISEASE 3; STGD3
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):
• Ophthalmogenetics
