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NADK2 Gene Sequencing
Clinical Genetic Test
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offered by
Revvity Omics
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GTR Test Accession: Help GTR000575927.3
INHERITED DISEASE
Last updated in GTR: 2020-05-11
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Last annual review date for the lab: 2024-02-01 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (1): Help
Hereditary disease
Genes (1): Help
NADK2 (5p13.2)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Sequence analysis and CNV detection is performed using Next Generation Sequencing (NGS) technology.
Target population: Help
Not provided
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
D5049
Manufacturer's name: Help
NADK2 Gene Sequencing
Specimen Source: Help
  • 2-5 mL Whole Blood (EDTA); Saliva, Dried Blood Spots, Genomic DN
Test Order Code: Help
D5049
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 the NADK2 gene.
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
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Sequence analysis and CNV detection is performed using Next Generation Sequencing (NGS) technology.
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
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
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.