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HelpTest 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 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.
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. Connective Tissue/Cerebrovascular Disease Genetic Testing Patient Information
3. Ehlers-Danlos Syndrome Gene Panel (EDSGG) Prior Authorization Ordering Instructions
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen.
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
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 22 genes associated with Ehlers-Danlos syndrome and related conditions: ADAMTS2, AEBP1, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, SPARC, TNXB, and ZNF469. See Targeted Genes and Methodology Details for Ehlers-Danlos 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 various forms of Ehlers-Danlos syndrome and related conditions.
Prior Authorization is available for this assay.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Ehlers-Danlos Syndrome Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
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.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
2. The Ehlers-Danlos Society. EDS types. The Ehlers-Danlos Society; 2017. Accessed March 20, 2024. Available at: www.ehlers-danlos.com/eds-types/
3. 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;17(5):405-424. doi:10.1038/gim.2015.30
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
81408 x2
81479
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 | 82939-0 |
| 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 |
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