Spinocerebellar Ataxia & Related Disorders Panel
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000597488.1
PSYCHIATRICNERVOUS SYSTEMINHERITED DISEASE ... View more
Last updated in GTR: 2022-06-07
Last annual review date for the lab: 2024-03-25 LinkOut
At a Glance
Diagnosis
Spinocerebellar ataxia type 1; Spinocerebellar ataxia 7
AARS2 (6p21.1), ABCD1 (Xq28), AFG3L2 (18p11.21), ANO10 (3p22.1-21.33), APTX (9p21.1), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
Not provided
Ordering Information
Test Order Code: Help
TL12
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 56
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Based on analytical validation studies, Next Generation Sequencing (NGS) has a sensitivity of >99% for identifying single nucleotide variants (SNV).
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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