Alport syndrome
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000509058.4
INHERITED DISEASESYNDROMIC DISEASEURINARY SYSTEM DISEASE ... View more
Last updated in GTR: 2020-07-20
Last annual review date for the lab: 2023-08-03 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Collagen IV-related nephropathies; Alport syndrome; Autosomal dominant Alport syndrome; ...
Genes (3): Help
COL4A3 (2q36.3), COL4A4 (2q36.3), COL4A5 (Xq22.3)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Institute of Human Genetics
View lab's website
Who can order: Help
  • Licensed Physician
Test additional service: Help
Custom Prenatal Testing
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:
Conditions Help
Total conditions: 6
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: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication 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
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
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.