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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
Help
offered by
Reference Laboratory Genetics
GTR Test Accession: Help GTR000559870.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2018-03-08
View version history
Last annual review date for the lab: 2021-01-04 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (109): Help
Acyl-CoA oxidase deficiency; Acatalasia; Adult neuronal ceroid lipofuscinosis; ...
Genes (78): Help
ACOX1 (17q25.1), AGA (4q34.3), AGPS (2q31.2), AGXT (2q37.3), AGXT2 (5p13.2), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
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
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Test strategy
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
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:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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