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Test Code 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 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.



Necessary Information


Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710

Specimen Type: Whole blood

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

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 Swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient 30 days

Additional Information: Due to lower concentration of DNA yielded from saliva, it is possible that additional specimen may be required to complete testing.


Method Name

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

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

The Ehlers-Danlos syndromes (EDS) are a clinically and genetically diverse group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. EDS has an overall estimated prevalence between 1:5000 and 1:25,000.

 

The classification system proposed by the International EDS Consortium identifies 13 subtypes of EDS.(1) A helpful chart delineating the various forms of EDS and their corresponding genes is provided by the Ehlers-Danlos Society.(2)

 

This panel includes genes associated with autosomal dominant and autosomal recessive forms of EDS, including classical, classical-like EDS, vascular, dermatosparaxis, spondylodysplastic, musculocontractural, cardiac-valvular EDS, myopathic, and kyphoscoliotic forms. Of note, hypermobile EDS is inherited in an autosomal dominant inheritance pattern, however, the molecular basis of this condition is unknown, and a diagnosis is based on clinical criteria.

 

Other conditions with phenotypic overlap with EDS covered by this panel include X-linked occipital horn syndrome (ATP7A gene), X-linked periventricular nodular heterotopia (FLNA gene), and brittle cornea syndrome (PRDM5 and ZNF469 genes).

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81408 x2

81479

81479 (if appropriate for government payers)

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.