Test Catalog

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

Useful For Suggests clinical disorders or settings where the test may be helpful

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 Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Ehlers-Danlos Syndrome Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

ADAMTS2
ATP7A
CHST14
COL1A1
COL1A2
COL3A1
COL5A1
COL5A2
Ehlers Danlos Syndrome (EDS)
FKBP14
PLOD1
SLC39A13
Classical EDS (cEDS)
Vascular EDS (vEDS)
Dermatosparaxis EDS (dEDS)
Musculocontractural EDS (mcEDS)
Arthrochalasia EDS (aEDS)
Cardiac-valvular EDS (cvEDS)
Kyphoscoliotic EDS (kEDS)
Spondylodysplastic EDS (spEDS)
EDS Type I
EDS Type II
EDS Type IV
EDS Type VIIC
Occipital horn syndrome
EDS Type IX
Periventricular nodular heterotopia
Filamin A
Next Gen Sequencing Test