Inheritest® CF/SMA Panel

Also known as: Carrier screening, Pan-ethnic carrier screening

Clinical Use

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Use

This test is used for carrier screening for cystic fibrosis and spinal muscular atrophy.

Special Instructions

Not provided.

Limitations

Technologies used in this test do not detect germline mosaicism and cannot rule out large chromosomal aberrations such as rearrangements and gene fusions. The presence of variants in regions or genes not included in this test cannot be assessed. Additionally, inter/intragenic interactions between variants or repeat expansions are not addressed. Variant classification may change over time as more data becomes available. Possible issues leading to false positives or negatives include rare genetic variants, sex chromosome abnormalities, pseudogene interference, previous blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or incorrect representation of family relationships.

Test Details

Methodology

NGS (Targeted)

Biomarkers

2 components

Cystic fibrosis genetic analysis • TargetedSMA copy number and allele discrimination analysis • qPCR

LOINC Codes

Result Codes

48018-6 - Gene studied ID
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.