Test Name & Code:
• Test Name: SCA Panel (Type 1,2,3,6,7)
• Test Code: 3619
• Test Code: 3619
Related Diseases & Genes:
• Spinocerebellar ataxia 1 (OMIM #: 164400) || Gene: ATXN1 (OMIM #: 601556)
• Spinocerebellar ataxia 2 (OMIM #: 183090) || Gene: ATXN2 (OMIM #: 601517)
• Spinocerebellar ataxia 6 (OMIM #: 183086) || Gene: ATXN3 (OMIM #: 607047)
• Spinocerebellar ataxia 7 (OMIM #: 164500) || Gene: CACNA1A (OMIM #: 601011)
• Gene: ATXN7 (OMIM #: 607640)
• Spinocerebellar ataxia 2 (OMIM #: 183090) || Gene: ATXN2 (OMIM #: 601517)
• Spinocerebellar ataxia 6 (OMIM #: 183086) || Gene: ATXN3 (OMIM #: 607047)
• Spinocerebellar ataxia 7 (OMIM #: 164500) || Gene: CACNA1A (OMIM #: 601011)
• Gene: ATXN7 (OMIM #: 607640)
Synonyms:
-none-
Test Details:
• Methodology: DNA Sequencing
• Reported: 3 weeks
• Reported: 3 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: 5-10 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: 5-10 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Test Information:
ATXN1 Gene (Exon 8); ATXN2 Gene (Exon 1); ATXN3 Gene (Exon 12); CACNA1A (Exon 48); ATXN7 Gene (Exon 3)
Testing Area(s):
• Neurogenetics
