Spinocerebellar ataxia type 12
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000562208.2
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2018-11-22
Last annual review date for the lab: 2023-10-30 LinkOut
At a Glance
Diagnosis
Spinocerebellar ataxia type 1
Genes (1): Help
PPP2R2B (5q32)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
West Bengal, India
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
55
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
For DNA based tests, 2 ml blood should be collected in a tube containing EDTA. The tube should be labelled (patient's name, referring Government hospital registration number and date of collection). The EDTA tube should be sent (within 4 hours of blood collection) at room temperature or should be stored …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
West Bengal, India
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% sensitive
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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