Alport syndrome panel
GTR Test Accession: Help GTR000525825.2
Last updated in GTR: 2016-06-08
Last annual review date for the lab: 2023-06-02 LinkOut
At a Glance
Alport syndrome; Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; ...
Genes (3): Help
COL4A3 (2q36.3), COL4A4 (2q36.3), COL4A5 (Xq22.3)
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Patients with suspected or known Alport syndrome and thin basement …
Not provided
Not provided
Ordering Information
Offered by: Help
Collagen Diagnostic Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Cell culture
  • Chorionic villi
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Lab contact: Help
Dru Leistritz, MS, Certified Genetic counselor, CGC, Genetic Counselor
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Submit test requisition form with diagnostic sample. Preferred sample type: whole blood (5-7 cc in EDTA). Also accepted: extracted DNA, cultured amniocytes, cultured chorionic villus sample, saliva.

For other sample types, including cultured cells, skin biopsy, or other tissue types, please notify the laboratory staff prior to shipment. …
View more
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Genetic counseling
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
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
Total methods: 2
Method Category Help
Test method Help
Deletion/duplication analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Target population: Help
Patients with suspected or known Alport syndrome and thin basement membrane nephropathy
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Each variant is interpreted on an individual basis using such techniques as a review of internal and public databases, prior reports in medical literature, sequence conservation, and predicted functional significance. Familial segregation testing to help interpret variants is offered on a case-by-case basis.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. For many (but not all) variants of uncertain significance, the laboratory recommends testing of parents and/or other biological relatives to determine whether the variant of interest segregates with a relevant phenotype.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer. The Collagen Diagnostic Laboratory strives to provide accurate and up-to-date interpretations to ordering clinicians. However, the Laboratory is not readily able to contact all ordering clinicians for past patients. It is recommended that clinicians contact the Laboratory staff to inquire about updates to variant interpretations.
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Variants that meet criteria for reporting are confirmed by targeted Sanger sequence analysis.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical validity is >98%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.