QHerit™ 6 Diseases, Female

Test Code

14011

CPT Codes
81259, 81269, 81363, 81364, 81222, 81223, 81336, 81243, 81408

Physician Attestation of Informed Consent

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.

Preferred Specimen

10 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

2 mL

Instructions

Patient's gender is required.
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.

Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 48 hours
Refrigerated: 14 days
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Received frozen • Sample exposed to heat

Methodology
Next Generation Sequencing • Sanger Sequencing • Polymerase Chain Reaction w/reflex to Southern Blot

FDA Status
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.

Setup Schedule

Set up: Mon-Sat; Report available: 14 days

Clinical Significance

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. 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 866.436.3463 to discuss the case with a Quest Genetic Counselor.

This test analyzes genetic variants associated with 6 conditions. Conditions included in this panel: Alpha-thalassemia (HBA1/HBA2); Beta hemoglobinopathies including sickle cell anemia (HBB); Cystic fibrosis (CFTR); Duchenne/Becker muscular dystrophy (DMD); Fragile X syndrome (FMR1); and Spinal muscular atrophy (SMN1).

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.