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Alport Syndrome Genetic Panel (2 Day STAT TAT)
Clinical Genetic Test
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offered by
Machaon Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000592959.1
CAP
IMMUNOLOGYINHERITED DISEASESYNDROMIC DISEASE ... View more
Registered in GTR: 2021-04-28
View version history
Last annual review date for the lab: 2024-04-04 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
X-linked Alport syndrome; Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome
Genes (3): Help
COL4A3 (2q36.3); COL4A4 (2q36.3); COL4A5 (Xq22.3)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Quantitative PCR (qPCR); ...
Target population: Help
Not provided
Clinical validity: Help
Published literature suggest relatively high clinical specificity for Alport Syndrome. …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Machaon Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
P1200
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
Please go to our website or call for ordering instructions.
Order URL
Test service: Help
Custom Sequence Analysis
Test development: Help
Test developed by laboratory (no manufacturer test name)
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
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Quantitative PCR (qPCR)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
Published literature suggest relatively high clinical specificity for Alport Syndrome. Recent expert guidelines suggest genetic testing for the diagnosis of AS can identify up to 95% of the pathogenic mutations.
View citations (1)
  • Hertz JM, Thomassen M, Storey H, Flinter F. Clinical utility gene card for: Alport syndrome. Eur J Hum Genet. 2012;20(6). doi:10.1038/ejhg.2011.237. Epub 2011 Dec 14. PMID: 22166944.
Recommended fields not provided:
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 analytic specificity and sensitivity of the NGS panel are greater than 99%. 30 rare and common variants in the genes tested were found in the sample NA12878 with zero false negatives and zero false positives.
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, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.