QHerit™ Expanded Carrier Screen

QHerit™ Expanded Carrier Screen

Test Code

94372
81443, 81243, 81329
⁠⁠⁠⁠⁠⁠⁠CPT coding may differ dependent on payer rules which may impact prior authorization testing.
Please direct any questions regarding CPT coding to the payer being billed.
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
94372
81443, 81243, 81329
⁠⁠⁠⁠⁠⁠⁠CPT coding may differ dependent on payer rules which may impact prior authorization testing.
Please direct any questions regarding CPT coding to the payer being billed.
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.

Clinical Significance

QHerit™ Expanded Carrier Screen - The expanded carrier screen offers hotspot molecular detection of variants for one X-linked and multiple autosomal recessive disorders at the same time and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss ...

Test Resources

None found for this test
Please visit our Clinical Education Center to stay informed on any future publications, webinars, or other education opportunities.

Test Details

Includes

  • HBA1/HBA2, HBB, BLM, ASPA, DLD, ELP1/IKBKAP, ABCC8, FANCC, BGBA, GSDIA/G6PC, TMEM216, MSUD, MCOLN1, NEB, SMPD1, HEXA, PCDH15, CLRN1, FKTN, CFTR, FMR1, SMN1/SMN2

Methodology

Polymerase Chain Reaction with Detection by Capillary Electrophoresis and Methylation Analysis • Multiplex Polymerase Chain Reaction • Massively Parallel Sequencing • Allele Specific Real-Time Polymerase Chain Reaction • ddCT Method

Reference Range(s)

See Laboratory Report

LOINC® Codes, Performing Laboratory

Service Area must be determined
HBA1/HBA2, HBB, BLM, ASPA, DLD, ELP1/IKBKAP, ABCC8, FANCC, BGBA, GSDIA/G6PC, TMEM216, MSUD, MCOLN1, NEB, SMPD1, HEXA, PCDH15, CLRN1, FKTN, CFTR, FMR1, SMN1/SMN2

Methodology

Polymerase Chain Reaction with Detection by Capillary Electrophoresis and Methylation Analysis • Multiplex Polymerase Chain Reaction • Massively Parallel Sequencing • Allele Specific Real-Time Polymerase Chain Reaction • ddCT Method

Reference Range(s)

See Laboratory Report
Service Area must be determined

Preferred Specimen(s)

1.5 mL whole blood collected in each of four EDTA (lavender-top) or ACD (yellow-top) tubes

Minimum Volume

1 mL in each of four tubes

Transport Container

EDTA (lavender-top) tubes or ACD (yellow-top) tubes

Transport Temperature

Room temperature

Specimen Stability

  • Room temperature: 14 days
  • Refrigerated: 8 days
  • Frozen: Unacceptable

Reject Criteria

Do not accept blood that is clotted, or shipped in damaged containers

Setup Schedule

Service Area must be determined
1.5 mL whole blood collected in each of four EDTA (lavender-top) or ACD (yellow-top) tubes

1 mL in each of four tubes

EDTA (lavender-top) tubes or ACD (yellow-top) tubes
Room temperature
Room temperature: 14 days
Refrigerated: 8 days
Frozen: Unacceptable
Do not accept blood that is clotted, or shipped in damaged containers
Service Area must be determined
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.
Test Details

Clinical Significance

Test Resources

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

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