Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 … see more Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes  see less
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000559870.1
Last updated in GTR: 2018-03-08
Last annual review date for the lab: 2021-01-04 Past due LinkOut
At a Glance
Acyl-CoA oxidase deficiency; Acatalasia; Adult neuronal ceroid lipofuscinosis; ...
ACOX1 (17q25.1), AGA (4q34.3), AGPS (2q31.2), AGXT (2q37.3), AGXT2 (5p13.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
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Ordering Information
Offered by: Help
Reference Laboratory Genetics
View lab's website
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.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
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: 109
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 78
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
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
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our NGS sequencing tests reach the maximal possible technical accuracy. The error rate is less than 0.1 % (> 99.8% accuracy)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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