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HelpTest ID: ALPGP Alport Syndrome Gene Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Hereditary Renal Genetic Testing Patient Information (T918)
3. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of Alport syndrome
Establishing a diagnosis of Alport syndrome
Genetics Test Information
This test utilizes next generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in four genes associated with Alport syndrome: COL4A3, COL4A4, COL4A5, and COL4A6. See Targeted Genes and Methodology Details for Alport Syndrome Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Alport syndrome.
Method Name
Sequence Capture Next-Generation Sequencing (NGS)/Sanger Sequencing
Reporting Name
Alport Syndrome Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Alport syndrome (AS) is a genetic disorder characterized by kidney disease, sensorineural hearing loss, and ocular findings. The disease spectrum, severity, and progression are variable; in many cases, kidney disease progresses to kidney failure.(1)
The genes associated with AS form the collagen IV alpha 345 network of basement membranes and have 3 different modes of inheritance. Disease-causing variants in the COL4A5 gene cause X-linked AS (XLAS) and account for approximately two thirds of disease.(1) In hemizygous male patients, XLAS tends to be more severe, while heterozygous female patients typically have a milder presentation (usually only hematuria).(2)
Autosomal recessive AS (ARAS) accounts for approximately 15% of cases and is caused by biallelic disease-causing variants in COL4A3 or COL4A4.(3) Some carriers of ARAS may develop thin basement membrane nephropathy. Digenic inheritance with disease-causing variants in both COL4A3 and COL4A4 has also been reported.(4) Autosomal dominant AS, caused by heterozygous disease-causing variants in COL4A3 or COL4A4, accounts for approximately 20% of cases and tends to exhibit slower disease progression (1,5)
Large deletions that span the adjacent 5' ends of COL4A5 and COL4A6 are associated with a contiguous gene syndrome characterized by AS and diffuse leiomyomatosis in the esophagus, however, disease-causing COL4A6 variants do not appear to be associated with isolated Alport syndrome.(6)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(7) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Kashtan CE: Alport syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews [Internet]. University of Washington, Seattle; 2001. Updated February 21, 2019. Accessed June 6, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1207/
2. Jais JP, Knebelmann B, Giatras I, et al: X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a European Community Alport Syndrome Concerted Action study. J Am Soc Nephrol. 2003 Oct;14(10):2603-2610
3. Gubler MC, Knebelmann B, Beziau A, et al: Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int. 1995 Apr;47(4):1142-1147
4. Mencarelli MA, Heidet L, Storey H, et al: Evidence of digenic inheritance in Alport syndrome. J Med Genet. 2015 Mar;52(3):163-174
5. van der Loop FT, Heidet L, Timmer ED, et al: Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int. 2000 Nov;58(5):1870-1875
6. Nozu K, Minamikawa S, Yamada S, et al: Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. J Hum Genet. 2017 Jul;62(7):733-735
7. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
Day(s) Performed
Varies
Report Available
28 to 42 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81407
81408 x 2
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| ALPGP | Alport Syndrome Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 618045 | Test Description | 62364-5 |
| 618046 | Specimen | 31208-2 |
| 618047 | Source | 31208-2 |
| 618048 | Result Summary | 50397-9 |
| 618049 | Result | 82939-0 |
| 618050 | Interpretation | 69047-9 |
| 618051 | Additional Results | 82939-0 |
| 618052 | Resources | 99622-3 |
| 618053 | Additional Information | 48767-8 |
| 618054 | Method | 85069-3 |
| 618055 | Genes Analyzed | 48018-6 |
| 618056 | Disclaimer | 62364-5 |
| 618057 | Released By | 18771-6 |
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