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92915: THAP1 DNA Sequencing Test (DYT6) Print View
Interpretation      
Technical Results      
Comments      
Methods      
References      

PRIMARY
1 Whole Blood EDTA 8 (6) mL   Room Temperature - 10 Day(s)/Refrigerated - 10 Day(s)  
ALTERNATE

Detection for sequence variants THAP1 gene in patients with Dystonia 6, torsion (DYT6). The dystonia involves the limbs and craniocervical region, and speech is often affected. DYT6 often progresses to generalized dystonia and the onset is in childhood.

Physician Attestation of Informed Consent - This germline genetic
test requires physician attestation that patient consent has been
received.

Please label each specimen tube with two forms of patient
identification. These forms of identification must also appear on the
requisition form. Higher blood volumes ensure adequate DNA quantity,
which varies with WBC, specimen condition, and need for confirmatory
testing. Patients 0-3 years have higher WBC, yielding more DNA mL of
blood.

DNA yields and quality are better in fresh specimens.
However, when necessary, most genetic tests are successful from DNA
purified from whole blood that is several days old.

Other Acceptable specimen refers to Whole Blood "Pediatric
(0-3 years)"
Adult: 8 mL (6 mL) EDTA (lavender-top) whole blood
Pediatric: 2 mL (1 mL) EDTA (lavender-top) whole blood
Setup Schedule
Wednesday

Reported (Analytical Time)
16-30 days

CPT Code
81404

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Notes
Transport Temperature: Room temperature Reject Criteria: Gross Hemolysis Methodology: Sanger Sequencing Setup: Varies






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