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Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing and Deletion/Duplication
Clinical Genetic Test
Help
offered by
Knight Diagnostic Laboratories - Molecular Diagnostic Center
View lab's test page
LinkOut
GTR Test Accession: Help GTR000334702.4
CAP
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2017-09-01
View version history
Last annual review date for the lab: 2023-06-23 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (4): Help
Infantile neuroaxonal dystrophy; Autosomal recessive Parkinson disease 14; Neurodegeneration with brain iron accumulation 2B; ...
Genes (1): Help
PLA2G6 (22q13.1)
Methods (3): Help
Molecular Genetics - Methylation analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Knight Diagnostic Laboratories - Molecular Diagnostic Center
View lab's website
View lab's test page
Test short name: Help
INAD
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
1680
View other test codes
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.
How to Order: Help
Order URL
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
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:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
The sensitivity is estimated at around 99%.
View citations (1)
  • Analytical validity of LDT is determined during validation of test following CLIA and CAP recommendations.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, 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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