Connective Tissue Disorders Panel
Use
This test is designed for individuals with features and a clinical or suspected diagnosis of connective tissue disorders, such as Ehlers-Danlos syndromes, Marfan syndrome, Loeys-Dietz syndrome, Stickler syndrome, and related disorders. It is also suitable for family members of patients with presumed or genetically confirmed connective tissue disorders who lack access to specific variant information.
Special Instructions
Testing is performed using Next-Generation Sequencing (NGS) with CNV detection on either an Exome or Genome Platform. Specimens can be submitted in the form of blood, DNA, buccal swabs, saliva, or tissue for the Exome Platform, and blood or DNA for the Genome Platform. Additional options include Exome-Wide CNV Analysis and STAT Testing.
Limitations
This test may not detect all genetic changes associated with connective tissue disorders, particularly in areas with poor coverage or complex genomic regions. There might be false negatives due to limitations of the technology or due to novel, uncharacterized variants not included in the current knowledge base. Interpretation is highly dependent on the clinical context provided by the healthcare provider.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided