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Test ID ALAGP Alagille Syndrome Gene Panel, Varies

Ordering Guidance

Targeted testing for familial variants (also called site-specific or known mutations/variants testing) is available for the genes on this panel. See FMTT / Familial Mutation, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.


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.

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.


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


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)


Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome


Establishing a diagnosis of Alagille syndrome

Method Name

Sequence Capture and Next Generation Sequencing (NGS)

Reporting Name

Alagille Syndrome Gene Panel

Specimen Type


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed


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. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information



81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ALAGP Alagille Syndrome Gene Panel 51966-0


Result ID Test Result Name Result LOINC Value
618031 Test Description 62364-5
618032 Specimen 31208-2
618033 Source 31208-2
618034 Result Summary 50397-9
618035 Result 82939-0
618036 Interpretation 69047-9
618037 Additional Results In Process
618038 Resources 99622-3
618039 Additional Information 48767-8
618040 Method 85069-3
618041 Genes Analyzed 48018-6
618042 Disclaimer 62364-5
618043 Released By 18771-6