Generalized Arterial Calcification of Infancy (GACI) and Pseudoxanthoma Elasticum (PXE) Panel
Use
This test is intended for individuals with features suggestive of generalized arterial calcification of infancy (GACI) or pseudoxanthoma elasticum (PXE), including those with a clinical or suspected diagnosis. It is also suitable for individuals who have a family member with presumed GACI or PXE who has not undergone genetic testing, or for those without access to specific variant information for a family member with a confirmed diagnosis. Furthermore, it is applicable to individuals with abnormal prenatal ultrasound findings suggestive of GACI.
Special Instructions
STAT testing is available, and the Exome or Genome platforms are utilized for NGS with CNV analysis. Specimens of blood, DNA, buccal, saliva, and tissue are accepted depending on the platform used. Testing must be ordered by a qualified healthcare provider, and proper patient consent and clinical features checklist are required.
Limitations
This test may not detect all genetic variants associated with GACI or PXE. The ability to interpret results depends on the quality of clinical information provided. The test does not guarantee detection of all polygenic risk factors, and its performance has not been validated for prenatal specimens collected from ongoing pregnancies using direct CVS or amniotic fluid.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided