QHerit™ 112 Diseases, Female

Test code

14232

CPT code(s)*

81443, 81243

**CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.

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 may be available in your area for purchase through Quest Mobile.

Clinical significance

QHerit™ 112 Diseases, Female - This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit 96™ Diseases, Male (Test Code 14227). Carrier screening aims to identify couples who have an increased risk of having an affected child 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…

Test resources

None found for this test
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Details

Test details

Methodology

Next Generation Sequencing • Sanger Sequencing • Polymerase Chain Reaction with reflex to Southern Blot

Assay category

These results should be used in the context of available clinical findings, and should not be used as the sole basis for treatment. This test was developed and its performance characteristics determined by Baylor Genetics, 2450 Holcombe Blvd., Houston, TX 77021. Laboratory director: Christine M. Eng, MD. US Food and Drug Administration (FDA) does not require this test to go through premarket FDA review. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.

Specimen requirements
Patient preparation	None Specified
Preferred specimen(s)	10 mL whole blood collected in an EDTA (lavender-top) tube
Alternative specimen(s)	2 mL saliva collected in QHerit At Home Saliva Collection Kit
Minimum volume	2 mL
Collection instructions	⁠⁠⁠⁠⁠⁠⁠For Quest Referrals Shipping: Ship at room temperature in an insulated container by overnight delivery Monday through Friday. Samples should NOT be shipped on Saturday or the day before or after a holiday to ensure viability. During warmer months, we recommend shipping with cool packs. When selecting saliva, the QHerit At Home Collection Kit (Test Code 15479) must be ordered with the QHerit test panel. Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject. Note: Patient's gender is required.
Transport container	EDTA (lavender-top) tube
Transport temperature	Room temperature
Specimen stability	⁠⁠⁠⁠⁠⁠⁠Whole blood Room temperature: 7 days Refrigerated: 14 days Frozen: Unacceptable Saliva Room temperature: 14 days Refrigerated: 14 days Frozen: 14 days
Reject criteria	Sample exposed to heat

Reference range(s)

See Laboratory Report

LOINC® codes

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Service Area Information

Performing lab & setup schedule

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Service Area Information

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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