Tay-Sachs DNA Mutation TAY

Synonyms

Allscripts (AEHR) Order Name

Tay-Sachs DNA Mutation

Sunrise Clinical Manager (SCM) Order Name

Tay-Sachs DNA Mutation Analysis

EPIC Order Name

Tay-Sachs DNA Mutation Analysis

Clinical Info

This test is used for carrier and diagnostic testing for Tay-Sachs disease.

Specimen Type

Blood

Specimen Volume

8.5 mL of EDTA whole blood (3 mL min)

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender-top (EDTA) tube(s) ACD Yellow Top also acceptable
Specimen: 8.5  mL of EDTA whole blood (3.0 mL min)
Collection Instructions:
Note:  A signed “Consent Form” is required for processing.

Transport Instructions

Room Temperature

Specimen Stability

14 Days Room Temperature
30 Days Refrigerated

Methodology

Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

Days Performed

TAT: 14-21 Days

Performing Laboratory

LabCorp

CPT

81406

PDM

5900774

Result Interpretation

Forms

• Prenatal Genetics Requisition