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Alport syndrome panel
Clinical Genetic Test
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offered by
Collagen Diagnostic Laboratory
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GTR Test Accession: Help GTR000525825.2
INHERITED DISEASEIMMUNOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2016-06-08
View version history
Last annual review date for the lab: 2023-06-02 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (6): Help
Alport syndrome; Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome more...
Genes (3): Help
COL4A3 (2q36.3); COL4A4 (2q36.3); COL4A5 (Xq22.3)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Target population: Help
Patients with suspected or known Alport syndrome and thin basement …
Clinical validity: Help
Not provided
Clinical utility: Help
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
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
[email protected]
206-543-5464
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. …
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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 but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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:
Test Order Code, Test strategy
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: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Microarray
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Diagnosis
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:
Clinical validity, Clinical utility, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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
Yes

Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
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
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.