Invitae Lysosomal Acid Lipase Deficiency Test
Use
The Invitae Lysosomal Acid Lipase (LAL) Deficiency test analyzes LIPA, the gene responsible for the accumulation of triglycerides, cholesterol esters, and fats, leading to cholesteryl ester storage disease (CESD) and Wolman disease (WD). This test is indicated for individuals suspected of having LAL deficiency based on clinical, radiologic, or laboratory findings. It aids in accurate risk assessment and carrier status for at-risk relatives.
Special Instructions
Preferred specimen is 3mL whole blood in a purple-top EDTA tube. Alternate specimens accepted include saliva, buccal swab, and gDNA.
Limitations
The test does not analyze variants outside the specific coding exons and adjacent intronic sequences. Some structural rearrangements and variants in regions with complex architecture may not be detected. Inherent sequence properties or low data quality may affect single-exon copy number events.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)