Targeted Variant Analysis via Sanger DNA Sequencing

Targeted Variant Analysis via Sanger DNA Sequencing
WSLH Department: Cytogenetics
WSLH Test Code:895M50
CPT Code: 
Price: 
Includes:Isolation and quantification of genomic DNA, followed by bi-directional Sanger sequencing of targeted variant region as described in the interpretation. Sequences are aligned to reference sequence (GRCh37/hg19). Variants are classified for pathogenicity using publicly available databases (NCBI, OMIM, UCSC Genome Browser, ClinVar, HGMD), internal database information and peer reviewed literature.
Methodology:**(CPT Code: 81479)** An amplicon surrounding the targeted variant is PCR amplified. Sanger sequencing is performed on the PCR amplicons. Sequence data are generated by capillary electrophoresis analysis of the sequencing products.
Availability:Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM
Turn-around Time:Approximately 4 weeks. (Reports are issued Monday-Friday 7:45 AM - 4:30 PM)
Recommended Uses:For the detection of specific targeted DNA variants.
Contraindications: 
Specimen Requirements:4 ml (preferred) - 2 ml (minimum) whole blood collected in EDTA vacuum type tube
Collection Kit/Container: 
Patient Preparation: 
Collection Instructions:Draw blood using aseptic techniques into a sterile EDTA vacuum type tube(s). Invert tube(s) to mix. If using larger tubes, draw to full volume to avoid over-treatment with anticoagulant.
Specimen Handling and Transport:Store and transport specimens at room temperature (may transport with coolant during hot, >85 degrees, weather). Specimens must be received by the laboratory within 24-48 hours of collection.
Unacceptable Conditions:Blood that is clotted or hemolyzed is not acceptable. Blood must not be frozen. Plasma and serum are not acceptable.
Requisition Form:Cytogenetics Lab Genetic Diagnosis Form #131
Required Information:Laboratory regulations require the following minimum information to be provided on the requisition form for a specimen to be accepted for testing: Patient name or unique identifier; date and time of collection, patient date of birth and sex, specimen type/site of collection, test request(s), reason for referral, clinician name and UPIN/NPI, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label.
Results include:Positive- apparently homozygous; Positive- apparently heterozygous; Negative
Limitations:1.Copy number variations are not detected with this assay.; 2.This assay cannot detect mosaicism.; 3.Nucleotide variation in primer binding sites can lead to allele dropout.
Additional Tests Recommended: 
Additional Comments: 
Additional Tests Performed: 

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