HLCS Sequence Analysis (Familial Mutation/Variant Analysis)
Use
The HLCS Sequence Analysis is geared toward identifying known familial variants with HLCS deficiency, which is an autosomal recessive disorder linked to a range of symptoms such as feeding difficulties, alopecia, and lethargy. Patients with a family history or who are planning pregnancy can benefit from carrier screening based on known familial variants. Treatment options through biotin supplementation may alleviate symptoms if it is administered timely, enhancing life quality for affected individuals. Reporting requires documentation of the familial variant from a relative and must inform the patient's symptomatic status to ensure relevant analysis is conducted. Symptomatic individuals experience notable health challenges in early life due to the deficiency, stressing the importance of early detection and management for affected families.
Special Instructions
A completed laboratory report detailing the familial variant must accompany the specimen. If the variant was identified in another laboratory, consult with a genetic counselor prior to submission. Specimen must be shipped under specific conditions to ensure stability and integrity, emphasizing that timely delivery is essential for accurate analysis and interpretation.
Limitations
Testing is contingent on the known familial variant's presence and previous identification. The assay's reliability can be influenced by specimen quality, specifically requiring timely processing and proper shipping conditions. Given the nature of PCR amplification and sequencing, any disruption during sample collection or transport (e.g., exceeding 72 hours at room temp) may compromise the results. Furthermore, misinterpretation of carrier status can arise due to unaccounted genetic variants or technical limitations of the assay, which could lead to false reassurance or undue anxiety concerning familial risk assessments. The assay does not cover unknown variants in HLCS that have not previously been characterized, restricting its applicability.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature in an insulated container by overnight courier; do not heat or freeze.
Causes for Rejection
Sample must arrive within 72 hrs.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |