Hereditary Degenerative Syndromes Panel
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000522456.2
INHERITED DISEASENERVOUS SYSTEMMETABOLIC DISEASE ... View more
Last updated in GTR: 2016-07-11
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis
Metachromatic leukodystrophy; 3-methylglutaconic aciduria type 1; Ataxia-telangiectasia syndrome; ...
ARFGEF2 (20q13.13), ARSA (22q13.33), ARX (Xp21.3), ATM (11q22.3), ATN1 (12p13.31), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Test Order Code: Help
NDD09
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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: 28
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 49
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
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
For diagnostic sequencing we require a minimal coverage of 30 high-quality, uniquely mapping non-duplicate reads over at least 97% of the target region. At this level, the lowest expected sensitivity is 99.998%. Pathogenic and unclear variants are resequenced using Sanger sequencing, providing a second, independent, confirmation.
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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