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Test ID EDSGG Ehlers-Danlos 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 Mutation, 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.

Necessary Information

Prior Authorization is available for this test. Submit the required form with the specimen.

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.

Specimen Type: Whole blood


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

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions


Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked periventricular nodular heterotopia, and brittle cornea syndrome

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Ehlers-Danlos 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

81408 x2


81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
EDSGG Ehlers-Danlos Syndrome Gene Panel 93200-4


Result ID Test Result Name Result LOINC Value
617254 Test Description 62364-5
617255 Specimen 31208-2
617256 Source 31208-2
617257 Result Summary 50397-9
617258 Result 82939-0
617259 Interpretation 69047-9
617260 Additional Results In Process
617261 Resources 99622-3
617262 Additional Information 48767-8
617263 Method 85069-3
617264 Genes Analyzed 48018-6
617265 Disclaimer 62364-5
617266 Released By 18771-6

Prior Authorization

Insurance preauthorization is available for this testing; forms are available.


Patient financial assistance may be available to those who qualify. Patients who receive a bill from Mayo Clinic Laboratories will receive information on eligibility and how to apply.