Ehlers-Danlos Syndrome Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions. It helps in establishing a diagnosis for conditions like Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked periventricular nodular heterotopia, and brittle cornea syndrome. The identification of a disease-causing variant can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
Prior Authorization is available for this assay, though not required. 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.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and false-negative or false-positive results may occur. Limitations include regions that cannot be effectively evaluated by sequencing due to homology, high GC content, and repetitive sequences. This test is not designed for low levels of mosaicism or differentiating between somatic mutations and germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 93200-4
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |