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Inheritest® CF/SMA Panel

Test Number 481758
Test number copied
CPT 81220; 81329
Synonyms
  • Carrier screening
  • Pan-ethnic carrier screening

Test Details

Methodology

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

Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).

Result Turnaround Time

14 - 21 days (In some cases, additional time may be required for confirmatory or reflex tests.)

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

For more information, please view the literature below.

Clinical Questionnaire for Inheritest® Carrier Screen and GeneSeq® PLUS

Test Includes

This test includes the following genes: CFTR and SMN1.

Use

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

Special Instructions

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

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.

Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, 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.

Specimen Requirements

Specimen

Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit

Volume

8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Minimum Volume

3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Container

Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

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.

Stability Requirements

Whole blood: 4 days at room temperature or 4°C

Buccal: 60 days at room temperature.

Saliva: 60 days at room temperature.

Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container or blood specimens more than four days post draw

References

Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806.34285390

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
481758 Inheritest(R)CF / SMA Panel 481735 Genes 48018-6
481758 Inheritest(R)CF / SMA Panel 481736 Ethnicity 42784-9
481758 Inheritest(R)CF / SMA Panel 481737 Specimen Type 31208-2
481758 Inheritest(R)CF / SMA Panel 481738 Genetic Counselor 89993-0
481758 Inheritest(R)CF / SMA Panel 481739 Indication 42349-1
481758 Inheritest(R)CF / SMA Panel 481740 Result: 50397-9
481758 Inheritest(R)CF / SMA Panel 481742 Interpretation 53039-4
481758 Inheritest(R)CF / SMA Panel 481743 General Comments 8262-8
481758 Inheritest(R)CF / SMA Panel 481744 Recommendations 62385-0
481758 Inheritest(R)CF / SMA Panel 481745 Additional ClinicalInformation 55752-0
481758 Inheritest(R)CF / SMA Panel 481746 Comments 8251-1
481758 Inheritest(R)CF / SMA Panel 481747 Methods/Limitations 49549-9
481758 Inheritest(R)CF / SMA Panel 481750 References 75608-0
481758 Inheritest(R)CF / SMA Panel 483699 Disorders Tested N/A
481758 Inheritest(R)CF / SMA Panel 481751 Director Review/Release 72486-4
481758 Inheritest(R)CF / SMA Panel 481752 PDF 51969-4
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481735
Result Code NameGenes
UofM
Result LOINC48018-6
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481736
Result Code NameEthnicity
UofM
Result LOINC42784-9
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481737
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481738
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481739
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481740
Result Code NameResult:
UofM
Result LOINC50397-9
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481742
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481743
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481744
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481745
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481746
Result Code NameComments
UofM
Result LOINC8251-1
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481747
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481750
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code483699
Result Code NameDisorders Tested
UofM
Result LOINCN/A
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481751
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code481758
Order Code NameInheritest(R)CF / SMA Panel
Order Loinc
Result Code481752
Result Code NamePDF
UofM
Result LOINC51969-4