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Inheritest® Core Panel

Test Number 481776
Test number copied
CPT Contact CPT coding department at 800-222-7566, ext. 6-8400.
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).

Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.

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, FMR1 and SMN1.

Use

This test is used for carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.

Special Instructions

Males are not tested for x-linked disorders, including fragile X syndrome.

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
481776 Inheritest(R) Core Panel 481759 Genes 48018-6
481776 Inheritest(R) Core Panel 481760 Ethnicity 46463-6
481776 Inheritest(R) Core Panel 481761 Specimen Type 31208-2
481776 Inheritest(R) Core Panel 481762 Genetic Counselor 89993-0
481776 Inheritest(R) Core Panel 481763 Indication 42349-1
481776 Inheritest(R) Core Panel 481764 Result: 19102-3
481776 Inheritest(R) Core Panel 481765 Interpretation 53039-4
481776 Inheritest(R) Core Panel 481766 General Comments 8262-8
481776 Inheritest(R) Core Panel 481767 Recommendations 62385-0
481776 Inheritest(R) Core Panel 481768 Additional ClinicalInformation 55752-0
481776 Inheritest(R) Core Panel 481769 Comments 8251-1
481776 Inheritest(R) Core Panel 481770 Methods/Limitations 49549-9
481776 Inheritest(R) Core Panel 481772 References 75608-0
481776 Inheritest(R) Core Panel 483722 Disorders Tested N/A
481776 Inheritest(R) Core Panel 481773 Director Review/Release 72486-4
481776 Inheritest(R) Core Panel 481774 PDF 51969-4
481776 Inheritest(R) Core Panel 482023 Patient Gender 76691-5
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481759
Result Code NameGenes
UofM
Result LOINC48018-6
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481760
Result Code NameEthnicity
UofM
Result LOINC46463-6
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481761
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481762
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481763
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481764
Result Code NameResult:
UofM
Result LOINC19102-3
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481765
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481766
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481767
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481768
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481769
Result Code NameComments
UofM
Result LOINC8251-1
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481770
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481772
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code483722
Result Code NameDisorders Tested
UofM
Result LOINCN/A
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481773
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code481774
Result Code NamePDF
UofM
Result LOINC51969-4
Order Code481776
Order Code NameInheritest(R) Core Panel
Order Loinc
Result Code482023
Result Code NamePatient Gender
UofM
Result LOINC76691-5
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482035 CF + Fragile X + SMA 482031 CFBC N/A
Reflex 1
Order Code482035
Order NameCF + Fragile X + SMA
Result Code482031
Result NameCFBC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482035 CF + Fragile X + SMA 482032 FRAXBC N/A
Reflex 1
Order Code482035
Order NameCF + Fragile X + SMA
Result Code482032
Result NameFRAXBC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482035 CF + Fragile X + SMA 482034 SMABC N/A
Reflex 1
Order Code482035
Order NameCF + Fragile X + SMA
Result Code482034
Result NameSMABC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482036 CF + SMA 482031 CFBC N/A
Reflex 1
Order Code482036
Order NameCF + SMA
Result Code482031
Result NameCFBC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482036 CF + SMA 482034 SMABC N/A
Reflex 1
Order Code482036
Order NameCF + SMA
Result Code482034
Result NameSMABC
UofM
Result LOINCN/A