Targeted Variant Analysis

Also known as: Family testing, Known variant analysis, Mutation specific sequencing, MUTSEQ

Clinical Use

Use

This test is used for testing for a known variant documented in the family and is available only for genes included in Inheritest® and GeneSeq® Cardio panels.

Special Instructions

Not provided.

Limitations

This test does not detect germline mosaicism and cannot rule out the presence of large chromosomal aberrations such as rearrangements or gene fusions. It does not detect variants in genes not covered by this test or interactions between variants. The interpretation or classification of variants may change as more information becomes available over time. False positive or false negative results may occur due to rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplants, somatic or tissue-specific mosaicism, mislabeled samples, or errors in representing family relationships.

Test Details

Methodology

NGS (Targeted)

Biomarkers

No genes

Gene

SNV/Indel

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

LOINC Codes

Order Codes

50397-9 - Mol dx interp Bld/T Ql

Result Codes

42784-9 - Ethnic Background Stated
31208-2 - Specimen source
89993-0 - Clinical genetics Counseling note
42349-1
50397-9 - Mol dx interp Bld/T Ql
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.