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Test Code 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

Method Name

Sequence Capture Next-Generation Sequencing (NGS)/Sanger Sequencing

Reporting Name

Alport Syndrome Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

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 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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