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Inheritest® High Frequency Panel

Test Number 481816
Test number copied
CPT Contact CPT coding department at 800-222-7566, ext. 6-8400.
Synonyms
  • Carrier screening
  • Expanded carrier testing
  • Pan-ethnic carrier screening

Test Details

Methodology

Next Generation Sequencing: Identifies 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: ABCA3, ABCC8, ABCD1, ACADM, ACADVL, ACAT1, AGA, AGXT, AHI1, AIRE, ALDOB, ALPL, ANO10, ARSA, ARX, ASL, ASPA, ATP7B, BBS1, BBS2, BCKDHB, BLM, BTD, CBS, CC2D2A, CCDC88C, CEP290, CFTR, CHRNE, CLCN1, CLRN1, CNGB3, COL7A1, CPT2, CYP11A1, CYP21A2, CYP27A1, CYP27B1, DHCR7, DHDDS, DLD, DMD, DYNC2H1, ELP1, ERCC2, EVC2, F9, FAH, FANCC, FKRP, FKTN, FMO3, FMR1, G6PC1, GAA, GALT, GBA1 (previously known as GBA), GBE1, GJB2, GLA, GNPTAB, GRIP1, HBA1, HBA2, HBB, HEXA, HPS1, HPS3, IDUA, L1CAM, LRP2, MCCC2, MCOLN1, MCPH1, MID1, MLC1, MMACHC, MMUT, MVK, NAGA, NEB, NPHS1, NR0B1, OCA2, OTC, PAH, PCDH15, PKHD1, PLP1, PMM2, POLG, PRF1, RARS2, RNASEH2B, RPGR, RS1, SCO2, SLC19A3, SLC26A2, SLC26A4, SLC37A4, SLC6A8, SMN1, SMPD1, TF, TMEM216, TNXB, TYR, USH2A and XPC.

Use

This test is used for pan-ethnic carrier screening and includes 110 of the genes included in the American College of Medical Genetics (ACMG) Tier 3 category.

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 Oragene Dx 500 saliva kit

Volume

8.5 mL whole blood or Oragene Dx saliva kit

Minimum Volume

3 mL whole blood or Oragene Dx saliva kit

Container

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

Collection Instructions

Standard phlebotomy; follow 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

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
481816 Inheritest High Frequency 19102-3 481798 Genes 48018-6
481816 Inheritest High Frequency 19102-3 481799 Ethnicity 46463-6
481816 Inheritest High Frequency 19102-3 481800 Specimen Type 31208-2
481816 Inheritest High Frequency 19102-3 481801 Genetic Counselor 89993-0
481816 Inheritest High Frequency 19102-3 481802 Indication 42349-1
481816 Inheritest High Frequency 19102-3 481803 Result: 19102-3
481816 Inheritest High Frequency 19102-3 481804 Interpretation 53039-4
481816 Inheritest High Frequency 19102-3 481805 General Comments 8262-8
481816 Inheritest High Frequency 19102-3 481806 Recommendations 62385-0
481816 Inheritest High Frequency 19102-3 481807 Additional ClinicalInformation 55752-0
481816 Inheritest High Frequency 19102-3 481808 Comments 8251-1
481816 Inheritest High Frequency 19102-3 481809 Methods/Limitations 49549-9
481816 Inheritest High Frequency 19102-3 481810 References 75608-0
481816 Inheritest High Frequency 19102-3 481811 Disorders Tested 19102-3
481816 Inheritest High Frequency 19102-3 481812 Director Review/Release 72486-4
481816 Inheritest High Frequency 19102-3 481813 PDF 51969-4
481816 Inheritest High Frequency 19102-3 481815 Patient Gender 76691-5
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481798
Result Code NameGenes
UofM
Result LOINC48018-6
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481799
Result Code NameEthnicity
UofM
Result LOINC46463-6
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481800
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481801
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481802
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481803
Result Code NameResult:
UofM
Result LOINC19102-3
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481804
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481805
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481806
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481807
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481808
Result Code NameComments
UofM
Result LOINC8251-1
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481809
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481810
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481811
Result Code NameDisorders Tested
UofM
Result LOINC19102-3
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481812
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481813
Result Code NamePDF
UofM
Result LOINC51969-4
Order Code481816
Order Code NameInheritest High Frequency
Order Loinc19102-3
Result Code481815
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 482132 High Freq/Guideline + FragileX 482130 High Freq/Guideline NGSBC N/A
Reflex 1
Order Code482132
Order NameHigh Freq/Guideline + FragileX
Result Code482130
Result NameHigh Freq/Guideline NGSBC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482132 High Freq/Guideline + FragileX 482131 FRAXBC N/A
Reflex 1
Order Code482132
Order NameHigh Freq/Guideline + FragileX
Result Code482131
Result NameFRAXBC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482133 High Freq/Guideline NGSBC 482133 High Freq/Guideline NGSBC N/A
Reflex 1
Order Code482133
Order NameHigh Freq/Guideline NGSBC
Result Code482133
Result NameHigh Freq/Guideline NGSBC
UofM
Result LOINCN/A