Classic view of this page
X-Linked Adrenoleukodystrophy Panel
Clinical Genetic Test
Help
offered by
Revvity Omics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000575838.3
INHERITED DISEASE
Last updated in GTR: 2020-05-11
View version history
Last annual review date for the lab: 2024-02-01 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (1): Help
Hereditary disease
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Sequence analysis and CNV detection is performed using Next Generation Sequencing (NGS) technology. Additional methodologies may also be used to analyze difficult to sequence regions.
Target population: Help
General population
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Revvity Omics
View lab's website
View lab's test page
Test short name: Help
D4043
Manufacturer's name: Help
X-Linked Adrenoleukodystrophy Panel
Specimen Source: Help
Test Order Code: Help
D4043
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Informed consent required: Help
Decline to answer
Test strategy: Help
This test analyzes 15 genes that have been associated with X-linked adrenoleukodystophy.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Contact policy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Sequence analysis and CNV detection is performed using Next Generation Sequencing (NGS) technology. Additional methodologies may also be used to analyze difficult to sequence regions.
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Target population: Help
General population
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, 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
In analytic validation, the WGS assay achieved 99.95% sensitivity, 99.99955% specificity and 99.6% positive predictive value for detecting SNVs. The assay achieved 97.9%, 96.0% and 95.2% sensitivity for detecting Indels of 1-5, 6-15 and 16-50 nucleotides respectively. The assay achieved 96% sensitivity for detecting structural variants in known clinical samples.
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
Practice guidelines:
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.