GeneSeq® PLUS, HEXA

Also known as: Tay-Sachs disease

Clinical Use

Order Test

Use

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

Special Instructions

Not provided.

Limitations

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. False positive or false negative results may occur for reasons such as rare genetic variants, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships. This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Test Details

Methodology

NGS (Targeted)

Biomarkers

No genes

Gene

SNV/Indel

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

19102-3 - Genetic scn Spec

Result Codes

19102-3 - Genetic scn Spec
42784-9 - Ethnic Background Stated
31208-2 - Specimen source
89993-0 - Clinical genetics Counseling note
42349-1
76033-0 - HEXA gene Full Mut Anl Bld/T Seq
53039-4 - Gene dis anl carrier interp-Imp
8262-8 - Service Cmnt 02-Imp
62385-0 - Recommendation Patient Doc-Imp
55752-0 - Clinical info
8251-1 - Service Cmnt-Imp
49549-9 - Ref lab test method
75608-0 - Citation Ref Lab Test
72486-4 - Lab director name Provider
51969-4 - Gene analysis narr rpt Doc

Result Turnaround Time

14-21 days

Specimen

Whole Blood

Volume

8.5 mL

Minimum Volume

3 mL

Container

Yellow-top (ACD-A) tube or lavender-top (EDTA) tube

Collection Instructions

Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.