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Test ID EDSGP Ehlers-Danlos Syndrome Panel (12 Genes), Next-Generation Sequencing and Deletion/Duplication Analysis, Varies


Advisory Information


Targeted testing for familial variants (also called site-specific or known mutation testing) is available for the genes on this panel. See:

-KVAR1 / Known Variant Analysis-1 Variant, Varies

-KVAR2 / Known Variant Analysis-2 Variants, Varies

-KVAR3 / Known Variant Analysis-3+ Variants, Varies

 

Call 800-533-1710 to confirm the appropriate test for targeted testing.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Necessary Information


Include physician name and phone number with specimen.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days

 

Specimen Type: DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/Ambient/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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Marfan and Related Disorders Patient Information (T636) in Special Instructions.

Useful For

Confirmation of a clinical diagnosis of Ehlers-Danlos Syndrome (EDS)

 

Differentiating between the different subtypes of EDS for diagnosis and management purposes

 

Ascertaining carrier status of family members of individuals diagnosed with EDS for genetic counseling purposes

Genetics Test Information

This test includes next generation sequencing with deletion/duplication (copy number variation) analysis and supplemental Sanger sequencing to evaluate for variants in the ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, and SLC39A13 genes.

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing or qPCR if needed

Reporting Name

Ehlers-Danlos Syndrome Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

Whole blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Wednesday; Varies

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 U.S. Food and Drug Administration.

CPT Code Information

81479

81408 x 2

81479 (if appropriate for government payers)

 

LOINC Code Information

Test ID Test Order Name Order LOINC Value
EDSGP Ehlers-Danlos Syndrome Gene Panel In Process

 

Result ID Test Result Name Result LOINC Value
601731 Gene(s) Evaluated 36908-2
601732 Result Summary 50397-9
601733 Result Details 82939-0
601734 Interpretation 69047-9
601735 Additional Information 48767-8
601736 Method 49549-9
601737 Disclaimer 62364-5
601738 Reviewed By 18771-6