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GTR Home > Tests > Alport syndrome panel

Overview

Test name

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Alport syndrome panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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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. There may be an additional charge for DNA extraction.
Order URL Help: http://uwcpdx.org/alport-panel-ng/

Specimen source

Amniocytes
Cell culture
Chorionic villi
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Skin

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Microarray
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeqâ„¢2000 system

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • Genetic counseling
  • Result interpretation
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.